Variant report

Variant	nsv969366
Chromosome Location	chr6:27775188-27776471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:680)
CpG islands
(count:733)
Chromatin interactive
region (count:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:27776432-27776974	K562	blood:	n/a	n/a
2	ARID3A	chr6:27775625-27776021	K562	blood:	n/a	chr6:27775900-27775908
3	ARID3A	chr6:27776335-27778213	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:27775650-27776033	HepG2	liver:	n/a	chr6:27775900-27775908
5	ATF1	chr6:27775582-27776137	K562	blood:	n/a	n/a
6	ATF2	chr6:27776209-27776946	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:27775412-27776099	GM12878	blood:	n/a	n/a
8	ATF2	chr6:27774568-27775306	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr6:27774622-27775261	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr6:27776299-27776848	GM12878	blood:	n/a	n/a
11	ATF2	chr6:27775590-27776074	GM12878	blood:	n/a	n/a
12	ATF2	chr6:27776219-27776987	GM12878	blood:	n/a	n/a
13	ATF2	chr6:27776228-27779588	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr6:27775453-27776086	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr6:27775489-27776094	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr6:27775541-27776070	K562	blood:	n/a	n/a
17	BATF	chr6:27775788-27776394	GM12878	blood:	n/a	n/a
18	BATF	chr6:27775331-27775715	GM12878	blood:	n/a	n/a
19	BCL11A	chr6:27775337-27775711	GM12878	blood:	n/a	n/a
20	BCL11A	chr6:27775416-27775710	GM12878	blood:	n/a	n/a
21	BCL11A	chr6:27775788-27776501	GM12878	blood:	n/a	n/a
22	BCL11A	chr6:27775912-27776219	GM12878	blood:	n/a	n/a
23	BCL3	chr6:27776279-27777070	A549	lung:	n/a	n/a
24	BCL3	chr6:27774688-27775308	A549	lung:	n/a	n/a
25	BCL3	chr6:27774678-27775449	A549	lung:	n/a	n/a
26	BCL3	chr6:27776312-27777234	K562	blood:	n/a	n/a
27	BCLAF1	chr6:27774830-27775333	GM12878	blood:	n/a	n/a
28	BCLAF1	chr6:27776201-27779775	K562	blood:	n/a	chr6:27777604-27777613
29	BCLAF1	chr6:27776202-27777088	GM12878	blood:	n/a	n/a
30	BCLAF1	chr6:27776228-27776913	GM12878	blood:	n/a	n/a
31	BCLAF1	chr6:27775372-27776105	GM12878	blood:	n/a	n/a
32	BCLAF1	chr6:27776189-27779716	K562	blood:	n/a	chr6:27777604-27777613
33	BCLAF1	chr6:27774321-27776113	K562	blood:	n/a	n/a
34	BCLAF1	chr6:27775711-27776076	GM12878	blood:	n/a	n/a
35	BCLAF1	chr6:27774190-27776112	K562	blood:	n/a	n/a
36	BCLAF1	chr6:27774813-27775532	GM12878	blood:	n/a	n/a
37	BHLHE40	chr6:27774790-27775471	K562	blood:	n/a	n/a
38	BRCA1	chr6:27775760-27776761	Hela-S3	cervix:	n/a	n/a
39	CBX3	chr6:27774219-27777104	K562	blood:	n/a	n/a
40	CBX3	chr6:27775321-27776549	K562	blood:	n/a	n/a
41	CCNT2	chr6:27776410-27776786	K562	blood:	n/a	n/a
42	CCNT2	chr6:27775528-27776139	K562	blood:	n/a	n/a
43	CEBPB	chr6:27775652-27775876	A549	lung:	n/a	chr6:27775815-27775826
44	CEBPB	chr6:27774613-27775197	MCF-7	breast:	n/a	n/a
45	CEBPB	chr6:27775611-27775991	IMR90	lung:	n/a	chr6:27775815-27775826 chr6:27775881-27775889
46	CEBPB	chr6:27774591-27777002	GM12878	blood:	n/a	chr6:27775815-27775826 chr6:27775881-27775889
47	CEBPB	chr6:27775654-27775978	K562	blood:	n/a	chr6:27775815-27775826 chr6:27775881-27775889
48	CEBPB	chr6:27775580-27776653	Hela-S3	cervix:	n/a	chr6:27775815-27775826 chr6:27775881-27775889
49	CEBPB	chr6:27774524-27775309	A549	lung:	n/a	n/a
50	CEBPB	chr6:27775343-27776689	K562	blood:	n/a	chr6:27775815-27775826 chr6:27775881-27775889

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27776350-27776400	HCM	heart:	n/a
2	chr6:27776350-27776400	HCM	heart:	n/a
3	chr6:27776329-27776379	AoSMC	blood vessel:	n/a
4	chr6:27776329-27776379	PANC-1	pancreas:	n/a
5	chr6:27776329-27776379	PrEC	prostate:	n/a
6	chr6:27775480-27775530	Caco-2	colon:	n/a
7	chr6:27775964-27776014	GM19239	blood:	n/a
8	chr6:27775888-27775938	HIPEpiC	eye:	n/a
9	chr6:27775964-27776014	NHDF-neo	bronchial:	n/a
10	chr6:27775720-27775770	Jurkat	blood:	n/a
11	chr6:27775888-27775938	GM06990	blood:	n/a
12	chr6:27775847-27775897	RPTEC	kidney:	n/a
13	chr6:27775877-27775927	AG09309	skin:	n/a
14	chr6:27775750-27775800	HEEpiC	esophagus:	n/a
15	chr6:27775750-27775800	MCF10A-Er-Src	breast:	n/a
16	chr6:27776039-27776089	NHDF-neo	bronchial:	n/a
17	chr6:27775657-27775707	NHDF-neo	bronchial:	n/a
18	chr6:27775657-27775707	AG04450	lung:	fetal
19	chr6:27776329-27776379	ECC-1	luminal epithelium:	n/a
20	chr6:27775877-27775927	T-47D	breast:	n/a
21	chr6:27775847-27775897	LNCaP	prostate:	n/a
22	chr6:27775346-27775396	PANC-1	pancreas:	n/a
23	chr6:27775888-27775938	HCPEpiC	choroid plexus:	n/a
24	chr6:27775480-27775530	HIPEpiC	eye:	n/a
25	chr6:27775964-27776014	HMEC	breast:	n/a
26	chr6:27775750-27775800	AG10803	skin:	n/a
27	chr6:27775964-27776014	HL-60	blood:	n/a
28	chr6:27775346-27775396	A549	lung:	n/a
29	chr6:27775847-27775897	SKMC	muscle:	n/a
30	chr6:27776329-27776379	BJ	skin:	n/a
31	chr6:27775720-27775770	AoSMC	blood vessel:	n/a
32	chr6:27775720-27775770	H1-hESC	embryonic stem cell:	embryo
33	chr6:27776039-27776089	GM19239	blood:	n/a
34	chr6:27775480-27775530	HCM	heart:	n/a
35	chr6:27776350-27776400	HL-60	blood:	n/a
36	chr6:27776350-27776400	AG04449	skin:	fetal
37	chr6:27775480-27775530	HEEpiC	esophagus:	n/a
38	chr6:27775720-27775770	GM12892	blood:	n/a
39	chr6:27775750-27775800	GM06990	blood:	n/a
40	chr6:27775888-27775938	HEK293	kidney:	embryo
41	chr6:27776329-27776379	U87	brain:	n/a
42	chr6:27775877-27775927	K562	blood:	n/a
43	chr6:27775750-27775800	AG04449	skin:	fetal
44	chr6:27776350-27776400	GM12892	blood:	n/a
45	chr6:27775877-27775927	GM12891	blood:	n/a
46	chr6:27775480-27775530	HL-60	blood:	n/a
47	chr6:27775847-27775897	AG10803	skin:	n/a
48	chr6:27775964-27776014	SK-N-SH	brain:	n/a
49	chr6:27775877-27775927	LNCaP	prostate:	n/a
50	chr6:27776329-27776379	NB4	blood:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:122240927..122243222-chr6:27775692..27777449,2	MCF-7	breast:
2	chr6:26270357..26275628-chr6:27773210..27778290,5	MCF-7	breast:
3	chr6:27775362..27779371-chr6:28186093..28189957,4	K562	blood:
4	chr6:27776394..27776918-chr7:26239803..26240598,2	Hela-S3	cervix:
5	chr6:27620343..27622323-chr6:27775251..27777000,2	K562	blood:
6	chr6:27114501..27115321-chr6:27775840..27776467,3	Hela-S3	cervix:
7	chr6:26032840..26034621-chr6:27775962..27778239,2	MCF-7	breast:
8	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
9	chr6:26204792..26206368-chr6:27774871..27776678,2	MCF-7	breast:
10	chr2:85173204..85174182-chr6:27776243..27777172,2	Hela-S3	cervix:
11	chr6:26203418..26208290-chr6:27773529..27778557,7	MCF-7	breast:
12	chr6:27112242..27117659-chr6:27770082..27780470,17	MCF-7	breast:
13	chr6:26030987..26033911-chr6:27775550..27778920,4	K562	blood:
14	chr6:26121475..26124291-chr6:27775665..27777300,3	MCF-7	breast:
15	chr6:27775977..27776702-chr8:124803216..124803716,2	NB4	blood:
16	chr6:26055768..26057563-chr6:27773736..27776348,2	MCF-7	breast:
17	chr6:26216294..26218815-chr6:27772946..27775743,3	MCF-7	breast:
18	chr6:27619629..27622323-chr6:27775500..27777172,2	K562	blood:
19	chr2:242640497..242642008-chr6:27772593..27775464,2	MCF-7	breast:
20	chr6:27098259..27104331-chr6:27773668..27779939,16	MCF-7	breast:
21	chr10:70091245..70092183-chr6:27775994..27776506,2	NB4	blood:
22	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
23	chr6:26124249..26127079-chr6:27774998..27777814,2	MCF-7	breast:
24	chr17:56735461..56737934-chr6:27775933..27778557,3	MCF-7	breast:
25	chr6:26196862..26203126-chr6:27774221..27779033,8	MCF-7	breast:
26	chr6:27356362..27358956-chr6:27773296..27775539,3	K562	blood:
27	chr11:62608524..62609452-chr6:27775275..27775944,3	NB4	blood:
28	chr6:26272978..26274527-chr6:27776343..27778592,2	MCF-7	breast:
29	chr12:120729570..120730234-chr6:27775990..27776670,2	Hela-S3	cervix:
30	chr12:56551653..56553251-chr6:27776259..27779166,2	MCF-7	breast:
31	chr6:26282374..26290542-chr6:27772727..27779446,9	MCF-7	breast:
32	chr6:27560791..27564329-chr6:27775763..27778725,3	K562	blood:
33	chr6:26246827..26249929-chr6:27775840..27778770,4	MCF-7	breast:
34	chr6:27111749..27120986-chr6:27774460..27781468,38	K562	blood:
35	chr12:69978747..69979546-chr6:27775291..27775940,2	NB4	blood:
36	chr6:27776463..27779000-chr6:28890031..28892525,2	MCF-7	breast:
37	chr16:19532302..19534486-chr6:27775725..27777712,2	MCF-7	breast:
38	chr12:122238688..122240991-chr6:27775066..27777926,2	MCF-7	breast:
39	chr6:27775710..27777880-chr6:28129434..28132036,2	K562	blood:
40	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
41	chr6:27100385..27101245-chr6:27775487..27776359,3	Hela-S3	cervix:
42	chr6:26197916..26207803-chr6:27772547..27779655,13	K562	blood:
43	chr4:74123460..74124971-chr6:27773658..27776230,2	MCF-7	breast:
44	chr6:26201617..26205446-chr6:27775076..27778001,4	K562	blood:
45	chr6:26025755..26029009-chr6:27774713..27777489,4	MCF-7	breast:
46	chr20:46253914..46256235-chr6:27775135..27778059,2	MCF-7	breast:
47	chr6:27775597..27780846-chr6:28300467..28304976,7	K562	blood:
48	chr6:26029311..26033760-chr6:27774369..27777821,5	MCF-7	breast:
49	chr6:27776411..27777164-chr7:1571618..1572564,2	Hela-S3	cervix:
50	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H3H	TF binding region
HIST1H2BL	TF binding region
HIST1H2AI	TF binding region
HIST1H3H	CpG island
HIST1H2BL	CpG island
HIST1H2AI	CpG island
ENSG00000197903	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000168395	chromatin interactions
ENSG00000158406	chromatin interactions
ENSG00000216676	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000257809	chromatin interactions
ENSG00000124613	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000256018	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000269293	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000124181	chromatin interactions
ENSG00000168242	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000250220	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000096746	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000206671	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000006007	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000198339	chromatin interactions
ENSG00000217275	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000176933	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000132466	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000235109	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000204713	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000166226	chromatin interactions
ENSG00000197697	chromatin interactions
ENSG00000261839	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000112812	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000124578	chromatin interactions
ENSG00000218690	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000226314	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000124635	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573134100	chr6:27775209-27775210	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
2	rs541052561	chr6:27775239-27775240	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
3	rs530610295	chr6:27775240-27775241	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
4	rs370032799	chr6:27775244-27775245	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
5	rs143487100	chr6:27775251-27775252	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
6	rs377332406	chr6:27775275-27775276	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
7	rs370926464	chr6:27775281-27775282	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
8	rs200638201	chr6:27775298-27775299	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
9	rs141178835	chr6:27775319-27775320	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
10	rs143510864	chr6:27775325-27775326	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
11	rs375981998	chr6:27775331-27775332	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
12	rs370037319	chr6:27775343-27775344	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
13	rs563781327	chr6:27775367-27775368	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
14	rs147972738	chr6:27775373-27775374	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
15	rs373681864	chr6:27775381-27775382	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
16	rs141648774	chr6:27775403-27775404	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
17	rs150583749	chr6:27775406-27775407	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
18	rs200166268	chr6:27775418-27775419	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
19	rs138784362	chr6:27775424-27775425	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
20	rs147149614	chr6:27775436-27775437	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
21	rs376262784	chr6:27775439-27775440	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
22	rs186068803	chr6:27775466-27775467	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
23	rs559785439	chr6:27775468-27775469	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
24	rs141737247	chr6:27775471-27775472	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
25	rs140274798	chr6:27775475-27775476	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
26	rs551809985	chr6:27775507-27775508	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
27	rs35074066	chr6:27775536-27775537	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201932219	chr6:27775537-27775538	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
29	rs371492098	chr6:27775538-27775539	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
30	rs139309275	chr6:27775554-27775555	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
31	rs374721250	chr6:27775562-27775563	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
32	rs536656957	chr6:27775564-27775565	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
33	rs550217184	chr6:27775582-27775583	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
34	rs150000460	chr6:27775590-27775591	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
35	rs567071925	chr6:27775601-27775602	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
36	rs536051122	chr6:27775607-27775608	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
37	rs144303836	chr6:27775608-27775609	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
38	rs201231863	chr6:27775616-27775617	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
39	rs368194728	chr6:27775627-27775628	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
40	rs372391364	chr6:27775637-27775638	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
41	rs148711105	chr6:27775647-27775648	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
42	rs573030664	chr6:27775650-27775651	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
43	rs538894622	chr6:27775652-27775653	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
44	rs375129466	chr6:27775670-27775671	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
45	rs142297357	chr6:27775672-27775673	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
46	rs200484	chr6:27775674-27775675	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs141811762	chr6:27775675-27775676	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
48	rs368046141	chr6:27775682-27775683	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
49	rs145663173	chr6:27775686-27775687	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
50	rs372174452	chr6:27775692-27775693	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27773400-27775200	Flanking Active TSS	GM12878-XiMat	blood
2	chr6:27774200-27775400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:27774200-27775400	Flanking Active TSS	Dnd41	blood
4	chr6:27774200-27775400	Flanking Active TSS	HMEC	breast
5	chr6:27774200-27778000	Active TSS	K562	blood
6	chr6:27774200-27779200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:27774200-27779200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:27774200-27779400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:27774200-27779800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:27774200-27779800	Active TSS	Thymus	Thymus
11	chr6:27774200-27779800	Active TSS	A549	lung
12	chr6:27774400-27775200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:27774400-27775200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr6:27774400-27775400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:27774400-27775400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:27774400-27775400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr6:27774400-27775400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:27774400-27775400	Flanking Active TSS	Fetal Thymus	thymus
19	chr6:27774400-27775400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr6:27774400-27775400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr6:27774400-27775400	Flanking Active TSS	NHEK	skin
22	chr6:27774400-27775600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr6:27774400-27775600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:27774400-27775600	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr6:27774400-27776200	Active TSS	Rectal Smooth Muscle	rectum
26	chr6:27774400-27776400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:27774400-27776400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr6:27774400-27776400	Active TSS	Fetal Kidney	kidney
29	chr6:27774400-27776400	Active TSS	Fetal Lung	lung
30	chr6:27774400-27776400	Active TSS	NHLF	lung
31	chr6:27774400-27776800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:27774400-27776800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:27774400-27777000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:27774400-27777200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:27774400-27778400	Active TSS	Brain Germinal Matrix	brain
36	chr6:27774400-27778400	Active TSS	Fetal Intestine Large	intestine
37	chr6:27774400-27778800	Active TSS	Fetal Brain Female	brain
38	chr6:27774400-27779000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:27774400-27779200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:27774400-27779200	Active TSS	NHDF-Ad	bronchial
41	chr6:27774400-27780000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr6:27774400-27780000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:27774400-27780000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr6:27774400-27780000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:27774400-27780200	Active TSS	H1 Cell Line	embryonic stem cell
46	chr6:27774400-27784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:27774600-27775200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:27774600-27775200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:27774600-27775400	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr6:27774600-27775400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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