Variant report

Variant	nsv818544
Chromosome Location	chr1:165797966-165811729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:614)
CpG islands
(count:244)
Chromatin interactive
region (count:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:165805671-165806378	K562	blood:	n/a	n/a
2	ARID3A	chr1:165797978-165798581	K562	blood:	n/a	n/a
3	ARID3A	chr1:165804455-165804459	K562	blood:	n/a	n/a
4	ARID3A	chr1:165798068-165798548	HepG2	liver:	n/a	n/a
5	ATF1	chr1:165806102-165806572	K562	blood:	n/a	n/a
6	ATF1	chr1:165809815-165809977	K562	blood:	n/a	n/a
7	ATF2	chr1:165811630-165812529	GM12878	blood:	n/a	n/a
8	ATF2	chr1:165797619-165797979	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:165802146-165802433	H1-hESC	embryonic stem cell:	n/a	chr1:165802287-165802301
10	BACH1	chr1:165802226-165802358	K562	blood:	n/a	chr1:165802287-165802301
11	BACH1	chr1:165805810-165806399	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr1:165810967-165811168	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:165805976-165806472	K562	blood:	n/a	n/a
14	BATF	chr1:165810816-165811117	GM12878	blood:	n/a	chr1:165810935-165810946 chr1:165810940-165810950
15	BATF	chr1:165811563-165811917	GM12878	blood:	n/a	n/a
16	BCL3	chr1:165797489-165798454	A549	lung:	n/a	chr1:165797592-165797605
17	BCL3	chr1:165797317-165798429	A549	lung:	n/a	chr1:165797592-165797605
18	BCLAF1	chr1:165797331-165798487	GM12878	blood:	n/a	chr1:165797592-165797605
19	BCLAF1	chr1:165796680-165798202	GM12878	blood:	n/a	chr1:165797056-165797065 chr1:165797282-165797291 chr1:165797043-165797056 chr1:165797229-165797242 chr1:165797232-165797245 chr1:165797230-165797243 chr1:165797290-165797303 chr1:165797592-165797605
20	BHLHE40	chr1:165806023-165806409	K562	blood:	n/a	n/a
21	BHLHE40	chr1:165802248-165802807	K562	blood:	n/a	n/a
22	BHLHE40	chr1:165811557-165812451	K562	blood:	n/a	n/a
23	BHLHE40	chr1:165810925-165811190	K562	blood:	n/a	n/a
24	BHLHE40	chr1:165811638-165812540	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:165796726-165798247	GM12878	blood:	n/a	chr1:165797174-165797190 chr1:165797235-165797251 chr1:165797598-165797614 chr1:165796971-165796987 chr1:165797227-165797243
26	BHLHE40	chr1:165796751-165798425	K562	blood:	n/a	chr1:165797174-165797190 chr1:165797235-165797251 chr1:165797598-165797614 chr1:165796971-165796987 chr1:165797227-165797243
27	BRCA1	chr1:165798027-165798163	HepG2	liver:	n/a	n/a
28	CBX3	chr1:165796600-165798501	K562	blood:	n/a	n/a
29	CBX3	chr1:165810708-165811151	K562	blood:	n/a	n/a
30	CCNT2	chr1:165796653-165798350	K562	blood:	n/a	chr1:165797716-165797725
31	CEBPB	chr1:165807230-165807597	IMR90	lung:	n/a	n/a
32	CEBPB	chr1:165807277-165807504	K562	blood:	n/a	n/a
33	CEBPB	chr1:165796683-165798607	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:165809669-165809728	HepG2	liver:	n/a	chr1:165809696-165809707
35	CEBPB	chr1:165805954-165805973	K562	blood:	n/a	n/a
36	CEBPB	chr1:165809533-165809865	K562	blood:	n/a	chr1:165809696-165809707
37	CEBPB	chr1:165809519-165809845	IMR90	lung:	n/a	chr1:165809696-165809707
38	CEBPD	chr1:165798006-165798538	K562	blood:	n/a	n/a
39	CHD1	chr1:165796874-165799140	GM12878	blood:	n/a	chr1:165797014-165797024 chr1:165797585-165797595 chr1:165797665-165797675
40	CHD1	chr1:165796796-165798733	H1-hESC	embryonic stem cell:	n/a	chr1:165797014-165797024 chr1:165797585-165797595 chr1:165797665-165797675
41	CHD1	chr1:165796053-165799451	IMR90	lung:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
42	CHD2	chr1:165796627-165798548	Hela-S3	cervix:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
43	CHD2	chr1:165806170-165806186	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr1:165806326-165806355	K562	blood:	n/a	n/a
45	CHD2	chr1:165798042-165798513	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr1:165798092-165798489	HepG2	liver:	n/a	n/a
47	CHD2	chr1:165800731-165800739	GM12878	blood:	n/a	n/a
48	CHD2	chr1:165796722-165798524	K562	blood:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
49	CHD2	chr1:165796716-165798513	GM12878	blood:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
50	CREB1	chr1:165798099-165798505	A549	lung:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:165798420-165798470	ECC-1	luminal epithelium:	n/a
2	chr1:165811207-165811257	SK-N-MC	brain:	n/a
3	chr1:165811207-165811257	SK-N-SH_RA	brain:	n/a
4	chr1:165798382-165798432	MCF10A-Er-Src	breast:	n/a
5	chr1:165798420-165798470	SKMC	muscle:	n/a
6	chr1:165811207-165811257	SKMC	muscle:	n/a
7	chr1:165811207-165811257	Jurkat	blood:	n/a
8	chr1:165798420-165798470	SAEC	small airway:	n/a
9	chr1:165798382-165798432	A549	lung:	n/a
10	chr1:165811207-165811257	HRCEpiC	kidney:	n/a
11	chr1:165798382-165798432	IMR90	lung:	fetal
12	chr1:165811207-165811257	HCT-116	colon:	n/a
13	chr1:165798382-165798432	HRPEpiC	eye:	n/a
14	chr1:165798420-165798470	SK-N-MC	brain:	n/a
15	chr1:165798382-165798432	U87	brain:	n/a
16	chr1:165800129-165800179	NH-A	brain:	n/a
17	chr1:165800129-165800179	HEK293	kidney:	embryo
18	chr1:165798382-165798432	NHBE	bronchial:	n/a
19	chr1:165800129-165800179	NB4	blood:	n/a
20	chr1:165798420-165798470	NH-A	brain:	n/a
21	chr1:165798382-165798432	HRCEpiC	kidney:	n/a
22	chr1:165798420-165798470	GM12891	blood:	n/a
23	chr1:165798382-165798432	GM12892	blood:	n/a
24	chr1:165798382-165798432	AG09319	gingival:	n/a
25	chr1:165811207-165811257	ovcar-3	ovarian:	n/a
26	chr1:165798382-165798432	NHDF-neo	bronchial:	n/a
27	chr1:165798382-165798432	AG04449	skin:	fetal
28	chr1:165800129-165800179	GM19239	blood:	n/a
29	chr1:165798382-165798432	HMEC	breast:	n/a
30	chr1:165798420-165798470	AG04449	skin:	fetal
31	chr1:165798382-165798432	SK-N-MC	brain:	n/a
32	chr1:165798382-165798432	HEK293	kidney:	embryo
33	chr1:165811207-165811257	NHBE	bronchial:	n/a
34	chr1:165798382-165798432	NB4	blood:	n/a
35	chr1:165798420-165798470	NT2-D1	testis:	n/a
36	chr1:165798420-165798470	NB4	blood:	n/a
37	chr1:165798420-165798470	HCT-116	colon:	n/a
38	chr1:165811207-165811257	MCF-7	breast:	n/a
39	chr1:165811207-165811257	GM12891	blood:	n/a
40	chr1:165800129-165800179	NHBE	bronchial:	n/a
41	chr1:165800129-165800179	NT2-D1	testis:	n/a
42	chr1:165798420-165798470	HRPEpiC	eye:	n/a
43	chr1:165798420-165798470	AG09319	gingival:	n/a
44	chr1:165798420-165798470	PFSK-1	brain:	n/a
45	chr1:165800129-165800179	GM12878	blood:	n/a
46	chr1:165800129-165800179	T-47D	breast:	n/a
47	chr1:165798420-165798470	BE2_C	brain:	n/a
48	chr1:165811207-165811257	LNCaP	prostate:	n/a
49	chr1:165798420-165798470	H1-hESC	embryonic stem cell:	embryo
50	chr1:165811207-165811257	A549	lung:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:165810645..165813480-chr1:165823292..165825548,2	K562	blood:
2	chr1:165801445..165804427-chr3:53618879..53621657,2	MCF-7	breast:
3	chr1:165737816..165739553-chr1:165807597..165809420,3	MCF-7	breast:
4	chr1:165797268..165798031-chr11:64084976..64085603,2	Hela-S3	cervix:
5	chr1:165667556..165669480-chr1:165798614..165800246,2	K562	blood:
6	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
7	chr1:165797802..165798336-chr19:36036615..36037222,2	Hela-S3	cervix:
8	chr1:165804707..165809840-chr1:165822123..165825220,4	K562	blood:
9	chr1:165806807..165812397-chr1:165814507..165819170,6	MCF-7	breast:
10	chr1:165804707..165808619-chr1:165822123..165824856,3	K562	blood:
11	chr1:165738181..165738790-chr1:165797712..165798704,2	Hela-S3	cervix:
12	chr1:165599775..165601444-chr1:165795750..165798255,2	K562	blood:
13	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:
14	chr1:165806407..165808791-chr1:165825833..165828310,2	MCF-7	breast:
15	chr1:165666281..165669188-chr1:165795955..165797975,3	MCF-7	breast:
16	chr1:165734875..165737199-chr1:165810836..165813345,2	K562	blood:
17	chr1:165797822..165798445-chr11:65238400..65239297,2	Hela-S3	cervix:
18	chr1:165797761..165798556-chr2:55275797..55276425,2	Hela-S3	cervix:
19	chr1:165797327..165800051-chr1:165876668..165879627,3	MCF-7	breast:
20	chr1:165741744..165743826-chr1:165797591..165799642,2	MCF-7	breast:
21	chr1:165797729..165798599-chr15:82554332..82555042,2	Hela-S3	cervix:
22	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
23	chr1:165710113..165712004-chr1:165797069..165798776,2	K562	blood:
24	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:
25	chr1:165796719..165798432-chr1:167188997..167191733,2	K562	blood:
26	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
27	chr1:165797500..165798067-chr6:134489786..134490486,2	Hela-S3	cervix:
28	chr1:165598807..165601582-chr1:165797127..165800019,4	K562	blood:
29	chr1:165797619..165798446-chr10:35415749..35416742,2	Hela-S3	cervix:
30	chr1:165795094..165800839-chr1:165801377..165807202,13	MCF-7	breast:
31	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
32	chr1:165797895..165798858-chr1:210546984..210547752,2	Hela-S3	cervix:
33	chr1:165797726..165798688-chr9:140135624..140136134,2	Hela-S3	cervix:
34	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
35	chr1:165797659..165798365-chr7:50859677..50860628,2	Hela-S3	cervix:
36	chr1:165654373..165656083-chr1:165811609..165814179,2	K562	blood:
37	chr1:165797029..165799386-chr1:165863557..165867019,3	K562	blood:
38	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
39	chr1:165798709..165800702-chr6:26239289..26241961,2	MCF-7	breast:
40	chr1:165701898..165704747-chr1:165797455..165798967,2	K562	blood:
41	chr1:165699126..165701487-chr1:165797315..165798954,2	K562	blood:
42	chr1:165739953..165741791-chr1:165806314..165808597,2	K562	blood:
43	chr1:165797276..165798002-chr7:100860513..100861460,2	Hela-S3	cervix:
44	chr1:165797467..165799152-chr1:165835828..165838379,2	MCF-7	breast:
45	chr1:165798053..165799867-chr1:165811993..165814835,2	MCF-7	breast:
46	chr1:165797353..165798141-chr14:103540442..103541389,2	Hela-S3	cervix:
47	chr1:165733730..165736417-chr1:165798667..165800425,2	K562	blood:
48	chr1:165778822..165780861-chr1:165797146..165799667,2	MCF-7	breast:
49	chr1:165803840..165805372-chr1:166123087..166125887,2	K562	blood:
50	chr1:165797906..165798776-chr17:43225882..43226503,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TMCO1	TF binding region
TMCO1	CpG island
ENSG00000207507	chromatin interactions
ENSG00000095794	chromatin interactions
ENSG00000198327	chromatin interactions
ENSG00000143190	chromatin interactions
ENSG00000140598	chromatin interactions
ENSG00000215838	chromatin interactions
ENSG00000143149	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000143179	chromatin interactions
ENSG00000224358	chromatin interactions
ENSG00000215952	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000236206	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000230534	chromatin interactions
ENSG00000143183	chromatin interactions
ENSG00000106400	chromatin interactions
ENSG00000143198	chromatin interactions
ENSG00000236144	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000272205	chromatin interactions
ENSG00000106397	chromatin interactions

Extended variants
information (count: 506 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2814472	chr1:165797966-165797967	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562989479	chr1:165797977-165797978	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
3	rs557054178	chr1:165798010-165798011	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs11585115	chr1:165798011-165798012	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142798989	chr1:165798049-165798050	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
6	rs555557636	chr1:165798050-165798051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs188708759	chr1:165798079-165798080	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs373994154	chr1:165798080-165798081	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs541371509	chr1:165798096-165798097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs558019591	chr1:165798105-165798106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs577994321	chr1:165798236-165798237	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs558929266	chr1:165798326-165798327	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs563669481	chr1:165798328-165798329	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs529381789	chr1:165798341-165798342	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs543105189	chr1:165798348-165798349	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs151051919	chr1:165798397-165798398	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs16851240	chr1:165798400-165798401	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551743009	chr1:165798418-165798419	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs571435979	chr1:165798423-165798424	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs541201900	chr1:165798484-165798485	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs139819875	chr1:165798511-165798512	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs371003199	chr1:165798621-165798622	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs73016673	chr1:165798643-165798644	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181139839	chr1:165798667-165798668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs535967751	chr1:165798675-165798676	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs185397370	chr1:165798717-165798718	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs565973332	chr1:165798737-165798738	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs534872037	chr1:165798746-165798747	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs374075457	chr1:165798752-165798753	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs558056190	chr1:165798762-165798763	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs578201722	chr1:165798765-165798766	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs544058091	chr1:165798803-165798804	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs114335890	chr1:165798833-165798834	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs573933717	chr1:165798851-165798852	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs191140953	chr1:165798880-165798881	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs180805400	chr1:165798886-165798887	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs575549770	chr1:165798978-165798979	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs10800160	chr1:165799022-165799023	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187649753	chr1:165799025-165799026	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs546901124	chr1:165799038-165799039	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs191958060	chr1:165799050-165799051	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs565062901	chr1:165799076-165799077	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs72699961	chr1:165799140-165799141	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs143371480	chr1:165799211-165799212	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs567196930	chr1:165799283-165799284	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs529631049	chr1:165799292-165799293	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs529897754	chr1:165799304-165799305	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs546323025	chr1:165799307-165799308	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs183700154	chr1:165799333-165799334	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs187242008	chr1:165799361-165799362	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	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
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
Breast cancer	21509527	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
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165796000-165798800	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr1:165796000-165799200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:165796200-165798000	Active TSS	Colonic Mucosa	Colon
4	chr1:165796200-165798000	Active TSS	Fetal Muscle Trunk	muscle
5	chr1:165796200-165798000	Active TSS	Right Ventricle	heart
6	chr1:165796200-165798600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:165796200-165798600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:165796200-165798600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:165796200-165798600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:165796200-165798600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:165796200-165798600	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:165796200-165798800	Active TSS	Aorta	Aorta
13	chr1:165796200-165798800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:165796200-165798800	Active TSS	NHDF-Ad	bronchial
15	chr1:165796200-165799000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:165796200-165799000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:165796200-165799200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:165796400-165798000	Active TSS	Fetal Muscle Leg	muscle
19	chr1:165796400-165798200	Active TSS	Left Ventricle	heart
20	chr1:165796400-165798200	Active TSS	Placenta Amnion	Placenta Amnion
21	chr1:165796400-165798400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:165796400-165798400	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:165796400-165798600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:165796400-165798600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:165796400-165798600	Active TSS	Brain Anterior Caudate	brain
26	chr1:165796400-165798600	Active TSS	Brain Germinal Matrix	brain
27	chr1:165796400-165798600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:165796400-165798600	Active TSS	Fetal Lung	lung
29	chr1:165796400-165798600	Active TSS	Thymus	Thymus
30	chr1:165796400-165798800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:165796400-165798800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:165796400-165798800	Active TSS	Fetal Kidney	kidney
33	chr1:165796400-165798800	Active TSS	Ovary	ovary
34	chr1:165796400-165799000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:165796400-165799000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:165796400-165799000	Active TSS	Fetal Intestine Large	intestine
37	chr1:165796400-165799200	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:165796400-165799200	Active TSS	GM12878-XiMat	blood
39	chr1:165796400-165799400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:165796400-165799400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:165796400-165799400	Active TSS	HSMMtube	muscle
42	chr1:165796400-165800000	Active TSS	Psoas Muscle	Psoas
43	chr1:165796600-165798000	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr1:165796600-165798000	Active TSS	Adipose Nuclei	Adipose
45	chr1:165796600-165798000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr1:165796600-165798200	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr1:165796600-165798200	Active TSS	Brain Angular Gyrus	brain
48	chr1:165796600-165798200	Active TSS	Brain Substantia Nigra	brain
49	chr1:165796600-165798400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:165796600-165798400	Active TSS	Cortex derived primary cultured neurospheres	brain

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