Variant report

Variant	nsv885856
Chromosome Location	chr6:44223010-44232920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1756)
CpG islands
(count:793)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1756 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:44224738-44225528	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:44223657-44223786	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:44225292-44225666	K562	blood:	n/a	n/a
4	ATF2	chr6:44226027-44226685	GM12878	blood:	n/a	n/a
5	ATF2	chr6:44230342-44231811	GM12878	blood:	n/a	n/a
6	ATF2	chr6:44228167-44228813	GM12878	blood:	n/a	n/a
7	ATF2	chr6:44222187-44223919	GM12878	blood:	n/a	n/a
8	ATF2	chr6:44231833-44232302	GM12878	blood:	n/a	n/a
9	ATF2	chr6:44224205-44226000	GM12878	blood:	n/a	n/a
10	ATF2	chr6:44228004-44228759	GM12878	blood:	n/a	n/a
11	ATF2	chr6:44220916-44223424	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr6:44224669-44225160	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr6:44226341-44226820	GM12878	blood:	n/a	n/a
14	ATF2	chr6:44224863-44226244	GM12878	blood:	n/a	n/a
15	ATF2	chr6:44221851-44223658	GM12878	blood:	n/a	n/a
16	ATF2	chr6:44230321-44232776	GM12878	blood:	n/a	n/a
17	ATF2	chr6:44221156-44223044	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr6:44225263-44225686	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr6:44225010-44225166	GM12878	blood:	n/a	chr6:44225083-44225103 chr6:44225104-44225124 chr6:44225072-44225092 chr6:44225104-44225113 chr6:44225093-44225113
20	ATF3	chr6:44224839-44225529	GM12878	blood:	n/a	chr6:44225083-44225103 chr6:44225410-44225419 chr6:44225104-44225124 chr6:44225072-44225092 chr6:44225104-44225113 chr6:44225093-44225113
21	ATF3	chr6:44224869-44225531	HepG2	liver:	n/a	chr6:44225083-44225103 chr6:44225410-44225419 chr6:44225104-44225124 chr6:44225072-44225092 chr6:44225104-44225113 chr6:44225093-44225113
22	ATF3	chr6:44224748-44225354	HepG2	liver:	n/a	chr6:44225083-44225103 chr6:44225104-44225124 chr6:44225072-44225092 chr6:44225104-44225113 chr6:44225093-44225113
23	ATF3	chr6:44224931-44225256	H1-hESC	embryonic stem cell:	n/a	chr6:44225083-44225103 chr6:44225104-44225124 chr6:44225072-44225092 chr6:44225104-44225113 chr6:44225093-44225113
24	ATF3	chr6:44224889-44225601	K562	blood:	n/a	chr6:44225083-44225103 chr6:44225410-44225419 chr6:44225104-44225124 chr6:44225072-44225092 chr6:44225104-44225113 chr6:44225093-44225113
25	ATF3	chr6:44224797-44225314	K562	blood:	n/a	chr6:44225083-44225103 chr6:44225104-44225124 chr6:44225072-44225092 chr6:44225104-44225113 chr6:44225093-44225113
26	ATF3	chr6:44224815-44225213	H1-hESC	embryonic stem cell:	n/a	chr6:44225083-44225103 chr6:44225104-44225124 chr6:44225072-44225092 chr6:44225104-44225113 chr6:44225093-44225113
27	BACH1	chr6:44225447-44225589	K562	blood:	n/a	n/a
28	BACH1	chr6:44232645-44233182	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr6:44224709-44225679	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr6:44232080-44232138	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr6:44228213-44228545	GM12878	blood:	n/a	n/a
32	BATF	chr6:44225364-44225805	GM12878	blood:	n/a	n/a
33	BCL11A	chr6:44225346-44225922	GM12878	blood:	n/a	n/a
34	BCL11A	chr6:44225587-44225843	GM12878	blood:	n/a	n/a
35	BCL11A	chr6:44222320-44223054	GM12878	blood:	n/a	n/a
36	BCL11A	chr6:44230897-44231564	GM12878	blood:	n/a	chr6:44231117-44231126 chr6:44231116-44231125
37	BCL11A	chr6:44228215-44228650	GM12878	blood:	n/a	n/a
38	BCL11A	chr6:44228195-44228483	GM12878	blood:	n/a	n/a
39	BCL3	chr6:44221545-44224189	A549	lung:	n/a	n/a
40	BCL3	chr6:44221805-44223490	GM12878	blood:	n/a	n/a
41	BCL3	chr6:44220950-44224246	K562	blood:	n/a	n/a
42	BCL3	chr6:44230975-44231592	GM12878	blood:	n/a	chr6:44231117-44231126 chr6:44231116-44231125
43	BCL3	chr6:44224314-44225903	GM12878	blood:	n/a	chr6:44225037-44225050 chr6:44224718-44224727
44	BCL3	chr6:44221897-44224092	A549	lung:	n/a	n/a
45	BCL3	chr6:44224925-44225707	A549	lung:	n/a	chr6:44225037-44225050
46	BCL3	chr6:44222345-44223073	GM12878	blood:	n/a	n/a
47	BCL3	chr6:44221565-44223530	K562	blood:	n/a	n/a
48	BCL3	chr6:44228163-44228797	GM12878	blood:	n/a	n/a
49	BCLAF1	chr6:44230256-44233386	GM12878	blood:	n/a	chr6:44232448-44232457 chr6:44231117-44231126 chr6:44230517-44230526 chr6:44231116-44231125
50	BCLAF1	chr6:44221350-44223617	K562	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:44225648-44225698	SK-N-SH	brain:	n/a
2	chr6:44224934-44224984	PFSK-1	brain:	n/a
3	chr6:44225450-44225500	IMR90	lung:	fetal
4	chr6:44225102-44225152	Hepatocyte	liver:	n/a
5	chr6:44229550-44229600	NT2-D1	testis:	n/a
6	chr6:44225443-44225493	NB4	blood:	n/a
7	chr6:44224934-44224984	NT2-D1	testis:	n/a
8	chr6:44225648-44225698	HUVEC	blood vessel:	n/a
9	chr6:44225485-44225535	NH-A	brain:	n/a
10	chr6:44225102-44225152	HCPEpiC	choroid plexus:	n/a
11	chr6:44225472-44225522	HCF	heart:	n/a
12	chr6:44231305-44231355	HCT-116	colon:	n/a
13	chr6:44225102-44225152	NT2-D1	testis:	n/a
14	chr6:44225102-44225152	AG09309	skin:	n/a
15	chr6:44225102-44225152	PrEC	prostate:	n/a
16	chr6:44231305-44231355	AG04450	lung:	fetal
17	chr6:44225485-44225535	HUVEC	blood vessel:	n/a
18	chr6:44225443-44225493	HUVEC	blood vessel:	n/a
19	chr6:44231305-44231355	HUVEC	blood vessel:	n/a
20	chr6:44231305-44231355	GM19239	blood:	n/a
21	chr6:44230977-44231027	GM12891	blood:	n/a
22	chr6:44230977-44231027	AG04449	skin:	fetal
23	chr6:44226395-44226445	SK-N-MC	brain:	n/a
24	chr6:44229550-44229600	HRCEpiC	kidney:	n/a
25	chr6:44230977-44231027	AG10803	skin:	n/a
26	chr6:44229440-44229490	AoSMC	blood vessel:	n/a
27	chr6:44225443-44225493	ECC-1	luminal epithelium:	n/a
28	chr6:44231305-44231355	LNCaP	prostate:	n/a
29	chr6:44230977-44231027	A549	lung:	n/a
30	chr6:44225648-44225698	CMK	blood:	n/a
31	chr6:44232189-44232239	HCF	heart:	n/a
32	chr6:44230977-44231027	NH-A	brain:	n/a
33	chr6:44225443-44225493	HAEpiC	amniotic membrane:	n/a
34	chr6:44231305-44231355	NHDF-neo	bronchial:	n/a
35	chr6:44225472-44225522	ProgFib	skin:	n/a
36	chr6:44225102-44225152	AG09319	gingival:	n/a
37	chr6:44225450-44225500	AG04449	skin:	fetal
38	chr6:44229440-44229490	HRE	kidney:	n/a
39	chr6:44225485-44225535	NT2-D1	testis:	n/a
40	chr6:44232189-44232239	BE2_C	brain:	n/a
41	chr6:44230977-44231027	HUVEC	blood vessel:	n/a
42	chr6:44226395-44226445	NB4	blood:	n/a
43	chr6:44226395-44226445	SK-N-SH_RA	brain:	n/a
44	chr6:44225472-44225522	PFSK-1	brain:	n/a
45	chr6:44232189-44232239	NHDF-neo	bronchial:	n/a
46	chr6:44225102-44225152	H1-hESC	embryonic stem cell:	embryo
47	chr6:44224934-44224984	SKMC	muscle:	n/a
48	chr6:44224934-44224984	NHBE	bronchial:	n/a
49	chr6:44225443-44225493	SAEC	small airway:	n/a
50	chr6:44226395-44226445	LNCaP	prostate:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:43595119..43596813-chr6:44228044..44230570,2	K562	blood:
2	chr6:44222396..44223017-chr7:2281562..2282450,2	Hela-S3	cervix:
3	chr6:43593647..43595263-chr6:44222300..44225086,2	K562	blood:
4	chr6:44229040..44230612-chr6:44275576..44277404,2	MCF-7	breast:
5	chr6:44223584..44225235-chr6:44274881..44277464,2	MCF-7	breast:
6	chr6:44231156..44234544-chr6:44279395..44281173,3	MCF-7	breast:
7	chr6:44223567..44227779-chr6:44264321..44266816,4	MCF-7	breast:
8	chr6:44189603..44194222-chr6:44219459..44225598,7	MCF-7	breast:
9	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
10	chr6:44229152..44231602-chr6:44233591..44236343,2	MCF-7	breast:
11	chr6:44102136..44105373-chr6:44223417..44225862,3	K562	blood:
12	chr6:44225012..44225889-chr6:44280928..44281605,2	K562	blood:
13	chr11:62607517..62610391-chr6:44222341..44224754,2	K562	blood:
14	chr6:44231603..44235224-chr6:44277267..44282023,5	MCF-7	breast:
15	chr6:44155358..44157152-chr6:44222734..44224483,2	MCF-7	breast:
16	chr6:44223709..44226790-chr6:44264741..44266558,3	MCF-7	breast:
17	chr6:44231713..44233466-chr6:44264708..44267385,2	MCF-7	breast:
18	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
19	chr6:44231911..44234847-chr6:44237510..44240187,2	MCF-7	breast:
20	chr6:44194780..44196882-chr6:44222691..44225125,2	MCF-7	breast:
21	chr6:44119509..44120094-chr6:44232568..44233208,2	MCF-7	breast:
22	chr6:44100637..44102842-chr6:44230503..44233422,2	MCF-7	breast:
23	chr1:181056458..181058688-chr6:44221777..44223533,2	MCF-7	breast:
24	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
25	chr6:44224347..44225018-chr7:73668650..73669199,2	Hela-S3	cervix:
26	chr16:89989183..89990124-chr6:44224339..44225140,2	MCF-7	breast:
27	chr6:44088008..44090239-chr6:44222816..44224474,2	MCF-7	breast:
28	chr6:43734520..43737591-chr6:44223261..44225123,3	K562	blood:
29	chr6:44229471..44232092-chr6:44306709..44308642,2	K562	blood:
30	chr6:44055374..44057616-chr6:44223363..44225359,2	MCF-7	breast:
31	chr11:14379842..14380660-chr6:44232804..44233558,2	Hela-S3	cervix:
32	chr6:44107494..44110338-chr6:44222390..44224695,3	K562	blood:
33	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
34	chr6:44075989..44078567-chr6:44228994..44231184,2	MCF-7	breast:
35	chr6:44222007..44224336-chrX:118601679..118603705,2	K562	blood:
36	chr6:26025174..26027343-chr6:44222131..44224578,2	K562	blood:
37	chr6:44230152..44232181-chr6:44314660..44317132,2	K562	blood:
38	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:
39	chr6:44222818..44225265-chr6:44280838..44282918,2	MCF-7	breast:
40	chr6:44231291..44234957-chr6:44353668..44356659,3	K562	blood:
41	chr6:44224914..44225770-chr6:44280677..44281261,3	MCF-7	breast:
42	chr6:44222894..44225212-chr7:135347349..135349019,2	K562	blood:
43	chr10:102759072..102759859-chr6:44224918..44225866,2	HCT-116	colon:
44	chr6:44107297..44110338-chr6:44222390..44225778,3	K562	blood:
45	chr6:44214120..44215707-chr6:44224252..44225325,5	Hela-S3	cervix:
46	chr6:44225090..44228269-chr6:44308012..44310883,3	K562	blood:
47	chr6:44229205..44230899-chr6:44280293..44282234,2	MCF-7	breast:
48	chr6:43624198..43626185-chr6:44230029..44232355,2	K562	blood:
49	chr17:7386545..7389187-chr6:44221331..44223122,2	K562	blood:
50	chr6:44099546..44105774-chr6:44219938..44225862,7	K562	blood:

No data

Variant related genes	Relation type
MIR4647	TF binding region
SLC35B2	TF binding region
NFKBIE	TF binding region
MIR4647	CpG island
SLC35B2	CpG island
NFKBIE	CpG island
ENSG00000122687	chromatin interactions
ENSG00000146221	chromatin interactions
ENSG00000258947	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000106268	chromatin interactions
ENSG00000162783	chromatin interactions
ENSG00000137216	chromatin interactions
ENSG00000180992	chromatin interactions
ENSG00000133818	chromatin interactions
ENSG00000249481	chromatin interactions
ENSG00000096401	chromatin interactions
ENSG00000172432	chromatin interactions
ENSG00000112759	chromatin interactions
ENSG00000005022	chromatin interactions
ENSG00000049541	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000224281	chromatin interactions
ENSG00000124608	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000178233	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000107816	chromatin interactions
ENSG00000183239	chromatin interactions

Extended variants
information (count: 431 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1875324	chr6:44223010-44223011	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201227721	chr6:44223016-44223017	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs145406343	chr6:44223036-44223037	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs538318523	chr6:44223037-44223038	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs370808683	chr6:44223039-44223040	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs147677839	chr6:44223047-44223048	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs199724351	chr6:44223074-44223075	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs182428561	chr6:44223097-44223098	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs142339274	chr6:44223107-44223108	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs149823072	chr6:44223123-44223124	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs76048013	chr6:44223124-44223125	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs200146778	chr6:44223147-44223148	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs573008456	chr6:44223168-44223169	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs540633770	chr6:44223184-44223185	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs377715053	chr6:44223188-44223189	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs148997630	chr6:44223230-44223231	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs371361831	chr6:44223236-44223237	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs374746477	chr6:44223239-44223240	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs143766738	chr6:44223247-44223248	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs367746095	chr6:44223250-44223251	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs36013392	chr6:44223259-44223260	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs370612210	chr6:44223287-44223288	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs35112470	chr6:44223292-44223293	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577438871	chr6:44223300-44223301	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs184880644	chr6:44223308-44223309	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs141685221	chr6:44223309-44223310	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs138680839	chr6:44223319-44223320	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs145346375	chr6:44223352-44223353	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs1141906	chr6:44223367-44223368	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs1141905	chr6:44223368-44223369	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs137898193	chr6:44223373-44223374	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs374004748	chr6:44223374-44223375	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs374539257	chr6:44223430-44223431	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs530309432	chr6:44223433-44223434	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs34599941	chr6:44223443-44223444	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs560848810	chr6:44223449-44223450	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs527943697	chr6:44223450-44223451	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs546596273	chr6:44223451-44223452	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs570888270	chr6:44223452-44223453	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs35055571	chr6:44223453-44223454	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs35174143	chr6:44223458-44223459	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116115389	chr6:44223481-44223482	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs568755941	chr6:44223492-44223493	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs34769068	chr6:44223507-44223508	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs566510695	chr6:44223516-44223517	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs148528757	chr6:44223551-44223552	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs376061373	chr6:44223613-44223614	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs189889736	chr6:44223650-44223651	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs568745959	chr6:44223686-44223687	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs181155218	chr6:44223700-44223701	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	21569311	CNVD
Cancer	20164920	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1387 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44216200-44223800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
2	chr6:44216600-44223200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:44216600-44223400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr6:44216600-44223400	Strong transcription	Fetal Kidney	kidney
5	chr6:44216800-44223200	Strong transcription	Aorta	Aorta
6	chr6:44216800-44223400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:44217000-44223200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:44217000-44223200	Strong transcription	Esophagus	oesophagus
9	chr6:44217000-44223200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr6:44217200-44223200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:44217200-44223200	Strong transcription	Colon Smooth Muscle	Colon
12	chr6:44217200-44223400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:44217200-44223600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:44217200-44223600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr6:44217200-44223800	Strong transcription	Placenta	Placenta
16	chr6:44217200-44223800	Strong transcription	Fetal Stomach	stomach
17	chr6:44217200-44223800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr6:44217400-44223200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:44217400-44223200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:44217400-44223200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:44217400-44223200	Strong transcription	Primary T cells from cord blood	blood
22	chr6:44217400-44223200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:44217400-44223200	Strong transcription	NHDF-Ad	bronchial
24	chr6:44217400-44223400	Strong transcription	Fetal Lung	lung
25	chr6:44217400-44223800	Strong transcription	Fetal Intestine Large	intestine
26	chr6:44217600-44223200	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr6:44217600-44223200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:44217600-44223200	Strong transcription	HSMMtube	muscle
29	chr6:44217600-44223400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:44217600-44223400	Strong transcription	Lung	lung
31	chr6:44217600-44223400	Strong transcription	Ovary	ovary
32	chr6:44217600-44223400	Strong transcription	Rectal Smooth Muscle	rectum
33	chr6:44217600-44223600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:44217600-44223600	Strong transcription	Adipose Nuclei	Adipose
35	chr6:44217600-44223600	Strong transcription	HSMM	muscle
36	chr6:44217600-44223800	Strong transcription	Colonic Mucosa	Colon
37	chr6:44217600-44223800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:44217800-44223200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:44217800-44223200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:44217800-44223600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:44218000-44223200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:44218000-44223400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:44218000-44223600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:44218400-44223400	Strong transcription	Osteobl	bone
45	chr6:44218400-44223600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:44218400-44223600	Genic enhancers	Dnd41	blood
47	chr6:44218600-44223200	Strong transcription	Liver	Liver
48	chr6:44218800-44223200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:44218800-44223200	Genic enhancers	K562	blood
50	chr6:44218800-44223400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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