Variant report

Variant	esv3356084
Chromosome Location	chr1:173445354-173448202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:928)
CpG islands
(count:854)
Chromatin interactive
region (count:31)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:928 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:173447230-173447952	K562	blood:	n/a	n/a
2	ARID3A	chr1:173444869-173445404	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:173446488-173446650	HepG2	liver:	n/a	n/a
4	ATF1	chr1:173446023-173446551	K562	blood:	n/a	n/a
5	ATF3	chr1:173445959-173446326	HepG2	liver:	n/a	n/a
6	ATF3	chr1:173446018-173446289	GM12878	blood:	n/a	n/a
7	ATF3	chr1:173445961-173446348	K562	blood:	n/a	n/a
8	ATF3	chr1:173445898-173446291	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr1:173445992-173446306	HepG2	liver:	n/a	n/a
10	ATF3	chr1:173445929-173446382	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr1:173445910-173446636	K562	blood:	n/a	n/a
12	ATF3	chr1:173445902-173446306	GM12878	blood:	n/a	n/a
13	BACH1	chr1:173447131-173447728	K562	blood:	n/a	n/a
14	BACH1	chr1:173447429-173447751	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr1:173446549-173446658	H1-hESC	embryonic stem cell:	n/a	n/a
16	BHLHE40	chr1:173445871-173446738	HepG2	liver:	n/a	n/a
17	BHLHE40	chr1:173445735-173446368	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:173446649-173446890	GM12878	blood:	n/a	chr1:173446795-173446811
19	BHLHE40	chr1:173444953-173447722	K562	blood:	n/a	chr1:173446795-173446811
20	BRCA1	chr1:173446583-173446615	GM12878	blood:	n/a	n/a
21	BRCA1	chr1:173445794-173446117	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr1:173445575-173446689	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr1:173445820-173446204	GM12878	blood:	n/a	n/a
24	BRCA1	chr1:173446449-173446750	HepG2	liver:	n/a	n/a
25	BRCA1	chr1:173447159-173447715	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr1:173444903-173446307	K562	blood:	n/a	chr1:173444947-173444958
27	CBX3	chr1:173446353-173447662	K562	blood:	n/a	n/a
28	CCNT2	chr1:173445844-173447979	K562	blood:	n/a	chr1:173447035-173447044 chr1:173446912-173446921
29	CEBPB	chr1:173444884-173445441	IMR90	lung:	n/a	n/a
30	CEBPB	chr1:173447233-173447571	A549	lung:	n/a	n/a
31	CEBPB	chr1:173447178-173447590	IMR90	lung:	n/a	n/a
32	CEBPB	chr1:173447210-173447512	K562	blood:	n/a	n/a
33	CEBPB	chr1:173447154-173447629	MCF-7	breast:	n/a	n/a
34	CEBPB	chr1:173447185-173447578	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr1:173447218-173447560	K562	blood:	n/a	n/a
36	CEBPB	chr1:173445693-173446039	HepG2	liver:	n/a	n/a
37	CEBPB	chr1:173445639-173447787	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr1:173445695-173445941	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr1:173447126-173447662	MCF-7	breast:	n/a	n/a
40	CEBPB	chr1:173445631-173446009	K562	blood:	n/a	n/a
41	CEBPB	chr1:173445625-173446086	MCF-7	breast:	n/a	n/a
42	CEBPB	chr1:173447193-173447553	K562	blood:	n/a	n/a
43	CEBPB	chr1:173445185-173445410	HepG2	liver:	n/a	n/a
44	CEBPB	chr1:173447231-173447543	HepG2	liver:	n/a	n/a
45	CEBPB	chr1:173444811-173445362	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr1:173445677-173446043	K562	blood:	n/a	n/a
47	CEBPB	chr1:173445683-173446032	A549	lung:	n/a	n/a
48	CEBPB	chr1:173445659-173446082	IMR90	lung:	n/a	n/a
49	CEBPD	chr1:173445948-173446233	HepG2	liver:	n/a	n/a
50	CEBPD	chr1:173446384-173446649	HepG2	liver:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:173445979-173446029	HRCEpiC	kidney:	n/a
2	chr1:173446253-173446303	PANC-1	pancreas:	n/a
3	chr1:173446460-173446510	H1-hESC	embryonic stem cell:	embryo
4	chr1:173445463-173445513	HCM	heart:	n/a
5	chr1:173446516-173446566	AoSMC	blood vessel:	n/a
6	chr1:173446516-173446566	SK-N-SH	brain:	n/a
7	chr1:173447015-173447065	HCM	heart:	n/a
8	chr1:173446253-173446303	PFSK-1	brain:	n/a
9	chr1:173445463-173445513	NHDF-neo	bronchial:	n/a
10	chr1:173445463-173445513	ECC-1	luminal epithelium:	n/a
11	chr1:173446460-173446510	AG09309	skin:	n/a
12	chr1:173446253-173446303	GM12892	blood:	n/a
13	chr1:173446124-173446174	ovcar-3	ovarian:	n/a
14	chr1:173447427-173447477	SKMC	muscle:	n/a
15	chr1:173445979-173446029	MCF10A-Er-Src	breast:	n/a
16	chr1:173446294-173446344	PANC-1	pancreas:	n/a
17	chr1:173446963-173447013	HL-60	blood:	n/a
18	chr1:173447015-173447065	GM12878	blood:	n/a
19	chr1:173446429-173446479	HUVEC	blood vessel:	n/a
20	chr1:173445979-173446029	IMR90	lung:	fetal
21	chr1:173445463-173445513	HCT-116	colon:	n/a
22	chr1:173446253-173446303	HAEpiC	amniotic membrane:	n/a
23	chr1:173446294-173446344	Hepatocyte	liver:	n/a
24	chr1:173445979-173446029	BJ	skin:	n/a
25	chr1:173445463-173445513	MCF-7	breast:	n/a
26	chr1:173445917-173445967	HCF	heart:	n/a
27	chr1:173446294-173446344	HRE	kidney:	n/a
28	chr1:173445979-173446029	SK-N-SH	brain:	n/a
29	chr1:173447427-173447477	Jurkat	blood:	n/a
30	chr1:173446315-173446365	HRE	kidney:	n/a
31	chr1:173446429-173446479	SK-N-SH	brain:	n/a
32	chr1:173446124-173446174	GM19239	blood:	n/a
33	chr1:173446242-173446292	BE2_C	brain:	n/a
34	chr1:173446963-173447013	PANC-1	pancreas:	n/a
35	chr1:173445979-173446029	AG10803	skin:	n/a
36	chr1:173445917-173445967	SAEC	small airway:	n/a
37	chr1:173446460-173446510	NHDF-neo	bronchial:	n/a
38	chr1:173446516-173446566	ECC-1	luminal epithelium:	n/a
39	chr1:173447015-173447065	AG04449	skin:	fetal
40	chr1:173446315-173446365	AG04449	skin:	fetal
41	chr1:173446460-173446510	SAEC	small airway:	n/a
42	chr1:173446124-173446174	K562	blood:	n/a
43	chr1:173446315-173446365	A549	lung:	n/a
44	chr1:173445463-173445513	A549	lung:	n/a
45	chr1:173446315-173446365	Caco-2	colon:	n/a
46	chr1:173446963-173447013	SK-N-MC	brain:	n/a
47	chr1:173446242-173446292	NH-A	brain:	n/a
48	chr1:173445979-173446029	GM12892	blood:	n/a
49	chr1:173446253-173446303	GM19239	blood:	n/a
50	chr1:173446963-173447013	GM12892	blood:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173446351..173447261-chr15:76628469..76629107,2	Hela-S3	cervix:
2	chr1:173446508..173448738-chr1:173682879..173684641,2	K562	blood:
3	chr1:173445824..173447952-chr1:174128991..174131620,2	K562	blood:
4	chr1:173446175..173446711-chr5:40834996..40835929,2	Hela-S3	cervix:
5	chr1:173447936..173449773-chr1:173832296..173834859,2	K562	blood:
6	chr1:173446451..173447265-chr6:134494988..134495679,2	Hela-S3	cervix:
7	chr1:173445697..173446417-chr5:40797910..40798503,2	Hela-S3	cervix:
8	chr1:173446262..173446977-chr17:73150299..73150837,2	Hela-S3	cervix:
9	chr1:173445302..173447387-chr1:173760235..173762454,2	MCF-7	breast:
10	chr1:173446558..173448990-chr1:173454032..173456674,3	MCF-7	breast:
11	chr1:173447238..173449255-chr1:173683141..173684861,2	K562	blood:
12	chr1:173446233..173448381-chr1:173683311..173685708,2	MCF-7	breast:
13	chr1:173446002..173446952-chr6:44214634..44215237,2	Hela-S3	cervix:
14	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
15	chr1:173446466..173446984-chr9:130661338..130662021,2	Hela-S3	cervix:
16	chr1:173446841..173450176-chr1:173473892..173477707,4	K562	blood:
17	chr1:173444899..173448691-chr1:173990820..173993753,4	MCF-7	breast:
18	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:
19	chr1:173445295..173447440-chr17:58469252..58471783,2	MCF-7	breast:
20	chr1:173444678..173448018-chr1:173835571..173838629,5	K562	blood:
21	chr1:173446562..173447403-chr7:75989075..75989632,2	Hela-S3	cervix:
22	chr1:173445658..173447676-chr1:173831376..173834939,3	K562	blood:
23	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
24	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
25	chr1:173445797..173446318-chr2:232469148..232469795,2	Hela-S3	cervix:
26	chr1:173445598..173446579-chr1:173683742..173684289,2	Hela-S3	cervix:
27	chr1:173445270..173447365-chr22:21995394..21997975,2	K562	blood:
28	chr1:173446849..173447550-chr9:140506243..140507023,2	Hela-S3	cervix:
29	chr1:173448175..173449804-chr1:173683297..173685231,2	MCF-7	breast:
30	chr1:173444743..173447866-chr1:173792301..173795321,5	MCF-7	breast:
31	chr1:173447012..173447602-chr20:62168590..62169243,2	Hela-S3	cervix:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRDX6-2	chr1:173445426-173445586	NONHSAT007638
2	lnc-PRDX6-2	chr1:173444952-173445375	NONHSAT007638
3	lnc-SLC9A11-2	chr1:173445771-173446294	ENSG00000247291

No data

Variant related genes	Relation type
PRDX6	TF binding region
PRDX6	CpG island
ENSG00000135870	chromatin interactions
ENSG00000200674	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000101213	chromatin interactions
ENSG00000189159	chromatin interactions
ENSG00000224977	chromatin interactions
ENSG00000141371	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000270084	chromatin interactions
ENSG00000227373	chromatin interactions
ENSG00000159556	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000120334	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000076321	chromatin interactions
ENSG00000208317	chromatin interactions
ENSG00000117593	chromatin interactions
ENSG00000160408	chromatin interactions
ENSG00000197070	chromatin interactions
ENSG00000132356	chromatin interactions
SPOPL	miRNA target sites

Extended variants
information (count: 103 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564955675	chr1:173445366-173445367	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
2	rs562828887	chr1:173445391-173445392	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs141114352	chr1:173445475-173445476	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
4	rs570874560	chr1:173445483-173445484	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
5	rs150267561	chr1:173445495-173445496	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
6	rs559386197	chr1:173445501-173445502	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
7	rs181494936	chr1:173445503-173445504	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
8	rs548067683	chr1:173445549-173445550	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
9	rs145849139	chr1:173445581-173445582	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
10	rs530645282	chr1:173445588-173445589	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs539579958	chr1:173445645-173445646	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs11576174	chr1:173445678-173445679	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs79525175	chr1:173445685-173445686	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs570471203	chr1:173445691-173445692	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs113967469	chr1:173445722-173445723	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs34977864	chr1:173445843-173445844	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548115182	chr1:173445848-173445849	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
18	rs79608495	chr1:173445894-173445895	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
19	rs35441546	chr1:173446029-173446030	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569964145	chr1:173446046-173446047	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
21	rs35133735	chr1:173446115-173446116	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535781819	chr1:173446131-173446132	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
23	rs570201261	chr1:173446193-173446194	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
24	rs537149125	chr1:173446228-173446229	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
25	rs35581908	chr1:173446264-173446265	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576875940	chr1:173446266-173446267	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
27	rs541007831	chr1:173446275-173446276	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
28	rs369047860	chr1:173446290-173446291	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
29	rs553268019	chr1:173446300-173446301	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs566994373	chr1:173446302-173446303	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs574661240	chr1:173446306-173446307	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs529823220	chr1:173446338-173446339	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs35846760	chr1:173446354-173446355	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs542080421	chr1:173446418-173446419	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs34760987	chr1:173446446-173446447	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs530683596	chr1:173446455-173446456	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
37	rs545960590	chr1:173446461-173446462	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
38	rs372544798	chr1:173446520-173446521	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
39	rs11543999	chr1:173446521-173446522	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
40	rs564166927	chr1:173446522-173446523	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
41	rs377554730	chr1:173446523-173446524	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
42	rs376603905	chr1:173446525-173446526	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs377315650	chr1:173446561-173446562	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs140551525	chr1:173446563-173446564	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs200467157	chr1:173446586-173446587	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs372496674	chr1:173446594-173446595	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs530346387	chr1:173446619-173446620	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs548813950	chr1:173446632-173446633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs112539478	chr1:173446634-173446635	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs377000758	chr1:173446644-173446645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173440600-173445800	Weak transcription	Spleen	Spleen
2	chr1:173443600-173445800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:173443600-173447400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:173443600-173447800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:173443800-173445400	Weak transcription	Fetal Kidney	kidney
6	chr1:173443800-173447600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:173444000-173445400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr1:173444000-173448000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:173444200-173445400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:173444200-173445600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:173444200-173445600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr1:173444200-173445800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:173444200-173445800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:173444200-173446000	Flanking Active TSS	Liver	Liver
15	chr1:173444200-173447400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:173444200-173447400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:173444400-173445400	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr1:173444400-173445600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:173444400-173445600	Flanking Active TSS	NH-A	brain
20	chr1:173444400-173445600	Flanking Active TSS	Osteobl	bone
21	chr1:173444400-173445800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:173444400-173445800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr1:173444400-173446200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:173444400-173448600	Active TSS	HSMMtube	muscle
25	chr1:173444600-173445600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr1:173444600-173445600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr1:173444600-173445600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:173444600-173445600	Flanking Active TSS	A549	lung
29	chr1:173444600-173445600	Flanking Active TSS	NHEK	skin
30	chr1:173444600-173445800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr1:173444600-173445800	Flanking Active TSS	Fetal Heart	heart
32	chr1:173444600-173445800	Flanking Active TSS	Hela-S3	cervix
33	chr1:173444600-173445800	Flanking Active TSS	HMEC	breast
34	chr1:173444600-173445800	Flanking Active TSS	HUVEC	blood vessel
35	chr1:173444600-173447400	Active TSS	Brain Angular Gyrus	brain
36	chr1:173444800-173445400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:173444800-173445400	Enhancers	Primary B cells from peripheral blood	blood
38	chr1:173444800-173445400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr1:173444800-173445600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:173444800-173445600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:173444800-173445600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr1:173444800-173445600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr1:173444800-173445600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:173444800-173445600	Flanking Active TSS	K562	blood
45	chr1:173444800-173445800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:173444800-173445800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:173444800-173445800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr1:173444800-173445800	Flanking Active TSS	Dnd41	blood
49	chr1:173444800-173449000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:173445000-173445400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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