Variant report

Variant	esv3402580
Chromosome Location	chr3:47822248-47824246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:705)
CpG islands
(count:733)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:47823180-47823697	HepG2	liver:	n/a	n/a
2	ATF2	chr3:47823224-47824309	GM12878	blood:	n/a	n/a
3	ATF2	chr3:47823353-47823818	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:47823379-47824042	GM12878	blood:	n/a	n/a
5	BACH1	chr3:47822846-47823713	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr3:47823495-47823776	GM12878	blood:	n/a	n/a
7	BATF	chr3:47823375-47824031	GM12878	blood:	n/a	n/a
8	BCL11A	chr3:47823503-47823789	GM12878	blood:	n/a	n/a
9	BCL11A	chr3:47823445-47823916	GM12878	blood:	n/a	n/a
10	BCL3	chr3:47823281-47823798	A549	lung:	n/a	n/a
11	BCL3	chr3:47823164-47824010	GM12878	blood:	n/a	n/a
12	BCLAF1	chr3:47822671-47824083	GM12878	blood:	n/a	n/a
13	BHLHE40	chr3:47822141-47824170	GM12878	blood:	n/a	chr3:47823032-47823048
14	BHLHE40	chr3:47822804-47823739	HepG2	liver:	n/a	chr3:47823032-47823048
15	BHLHE40	chr3:47822472-47823929	K562	blood:	n/a	chr3:47823032-47823048
16	BRCA1	chr3:47823134-47823621	HepG2	liver:	n/a	n/a
17	BRCA1	chr3:47821939-47822883	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr3:47823134-47823695	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr3:47823123-47823740	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr3:47823030-47823762	GM12878	blood:	n/a	n/a
21	CBX3	chr3:47823147-47824694	K562	blood:	n/a	n/a
22	CCNT2	chr3:47822656-47823958	K562	blood:	n/a	chr3:47823002-47823011
23	CEBPB	chr3:47824227-47824577	K562	blood:	n/a	n/a
24	CEBPB	chr3:47823031-47823699	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr3:47823315-47824715	GM12878	blood:	n/a	n/a
26	CEBPD	chr3:47823084-47823836	K562	blood:	n/a	n/a
27	CEBPD	chr3:47823158-47823661	HepG2	liver:	n/a	n/a
28	CHD1	chr3:47821408-47823615	H1-hESC	embryonic stem cell:	n/a	chr3:47823001-47823011
29	CHD1	chr3:47821091-47823999	GM12878	blood:	n/a	chr3:47823001-47823011
30	CHD1	chr3:47821334-47824620	IMR90	lung:	n/a	chr3:47823001-47823011
31	CHD2	chr3:47822953-47823706	H1-hESC	embryonic stem cell:	n/a	chr3:47823001-47823011
32	CHD2	chr3:47822742-47823881	K562	blood:	n/a	chr3:47823001-47823011
33	CHD2	chr3:47822625-47823906	GM12878	blood:	n/a	chr3:47823001-47823011
34	CHD2	chr3:47822519-47823946	Hela-S3	cervix:	n/a	chr3:47823001-47823011
35	CHD2	chr3:47822667-47823941	HepG2	liver:	n/a	chr3:47823001-47823011
36	CREB1	chr3:47823034-47823688	A549	lung:	n/a	n/a
37	CREB1	chr3:47823106-47823825	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr3:47822596-47823976	K562	blood:	n/a	n/a
39	CREB1	chr3:47822776-47823908	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr3:47822667-47824079	GM12878	blood:	n/a	n/a
41	CREB1	chr3:47822585-47824077	HepG2	liver:	n/a	n/a
42	CTCF	chr3:47823420-47823570	AG10803	skin:	n/a	n/a
43	CTCF	chr3:47823480-47823630	AG09319	gingival:	n/a	n/a
44	CTCF	chr3:47823475-47823574	GM12892	blood:	n/a	n/a
45	CTCF	chr3:47823480-47823630	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr3:47823400-47823550	GM12871	blood:	n/a	n/a
47	CTCF	chr3:47823425-47823586	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr3:47823460-47823750	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr3:47823475-47823567	GM12891	blood:	n/a	n/a
50	CTCF	chr3:47823660-47823810	AG10803	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47823995-47824045	HNPCEpiC	eye:	n/a
2	chr3:47823995-47824045	HNPCEpiC	eye:	n/a
3	chr3:47823423-47823473	U87	brain:	n/a
4	chr3:47823067-47823117	HCPEpiC	choroid plexus:	n/a
5	chr3:47823638-47823688	GM12878	blood:	n/a
6	chr3:47823531-47823581	HCM	heart:	n/a
7	chr3:47823531-47823581	CMK	blood:	n/a
8	chr3:47823291-47823341	AG09309	skin:	n/a
9	chr3:47823995-47824045	HL-60	blood:	n/a
10	chr3:47823674-47823724	RPTEC	kidney:	n/a
11	chr3:47823291-47823341	K562	blood:	n/a
12	chr3:47823067-47823117	SAEC	small airway:	n/a
13	chr3:47823121-47823171	Jurkat	blood:	n/a
14	chr3:47823121-47823171	SK-N-MC	brain:	n/a
15	chr3:47823423-47823473	HEK293	kidney:	embryo
16	chr3:47823674-47823724	GM19239	blood:	n/a
17	chr3:47823291-47823341	RPTEC	kidney:	n/a
18	chr3:47823067-47823117	HRPEpiC	eye:	n/a
19	chr3:47823820-47823870	NB4	blood:	n/a
20	chr3:47823423-47823473	HEEpiC	esophagus:	n/a
21	chr3:47823674-47823724	GM06990	blood:	n/a
22	chr3:47823674-47823724	A549	lung:	n/a
23	chr3:47823531-47823581	HAEpiC	amniotic membrane:	n/a
24	chr3:47823423-47823473	CMK	blood:	n/a
25	chr3:47823067-47823117	HIPEpiC	eye:	n/a
26	chr3:47823674-47823724	Hepatocyte	liver:	n/a
27	chr3:47823121-47823171	AG04450	lung:	fetal
28	chr3:47823067-47823117	PANC-1	pancreas:	n/a
29	chr3:47823524-47823574	HEK293	kidney:	embryo
30	chr3:47823614-47823664	NB4	blood:	n/a
31	chr3:47823524-47823574	AG10803	skin:	n/a
32	chr3:47823820-47823870	NHBE	bronchial:	n/a
33	chr3:47823121-47823171	HNPCEpiC	eye:	n/a
34	chr3:47823560-47823610	AG09309	skin:	n/a
35	chr3:47823820-47823870	ECC-1	luminal epithelium:	n/a
36	chr3:47823524-47823574	SAEC	small airway:	n/a
37	chr3:47823524-47823574	A549	lung:	n/a
38	chr3:47823674-47823724	NHBE	bronchial:	n/a
39	chr3:47823560-47823610	HCT-116	colon:	n/a
40	chr3:47823524-47823574	Jurkat	blood:	n/a
41	chr3:47823423-47823473	GM19239	blood:	n/a
42	chr3:47823531-47823581	RPTEC	kidney:	n/a
43	chr3:47823638-47823688	RPTEC	kidney:	n/a
44	chr3:47823423-47823473	PANC-1	pancreas:	n/a
45	chr3:47823067-47823117	AG04449	skin:	fetal
46	chr3:47823423-47823473	MCF10A-Er-Src	breast:	n/a
47	chr3:47823995-47824045	NB4	blood:	n/a
48	chr3:47823291-47823341	H1-hESC	embryonic stem cell:	embryo
49	chr3:47823995-47824045	RPTEC	kidney:	n/a
50	chr3:47823995-47824045	GM12891	blood:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:49346523..49348276-chr3:47822543..47824569,2	MCF-7	breast:
2	chr3:47819738..47825460-chr3:47843094..47847845,6	K562	blood:
3	chr3:47781011..47782804-chr3:47820824..47822711,2	K562	blood:
4	chr3:47555068..47558623-chr3:47821026..47823771,5	K562	blood:
5	chr3:47822911..47823824-chr6:136610140..136610954,2	Hela-S3	cervix:
6	chr3:47822067..47822622-chr5:131825519..131826350,2	Hela-S3	cervix:
7	chr3:47555986..47558236-chr3:47820565..47823335,2	MCF-7	breast:
8	chr3:47822834..47823428-chr9:115479877..115480684,2	Hela-S3	cervix:
9	chr3:47756501..47758840-chr3:47823699..47825291,2	K562	blood:
10	chr3:47807226..47809643-chr3:47821048..47823302,2	MCF-7	breast:
11	chr17:70588474..70589204-chr3:47822988..47823742,2	HCT-116	colon:
12	chr3:47783474..47786163-chr3:47820894..47822857,2	MCF-7	breast:
13	chr15:45878972..45879914-chr3:47822992..47823712,2	Hela-S3	cervix:
14	chr3:47750990..47753722-chr3:47821277..47822829,2	K562	blood:
15	chr3:47821721..47824833-chr3:47865723..47867890,4	K562	blood:
16	chr3:47821014..47824119-chr3:47842599..47847365,10	K562	blood:
17	chr3:47823164..47824038-chr3:187871696..187872523,2	Hela-S3	cervix:
18	chr3:47821496..47825290-chr3:47843622..47845759,4	MCF-7	breast:
19	chr3:47553771..47557534-chr3:47822005..47824702,4	K562	blood:
20	chr3:47803866..47805515-chr3:47821094..47823324,2	K562	blood:
21	chr3:47821442..47824826-chr3:47842672..47846080,5	MCF-7	breast:
22	chr3:47017679..47019433-chr3:47821354..47822860,2	K562	blood:
23	chr3:47822877..47823522-chr5:141303412..141304108,2	Hela-S3	cervix:
24	chr3:47820608..47822821-chr3:47870608..47873437,2	K562	blood:
25	chr3:47775553..47777861-chr3:47823812..47825481,2	K562	blood:
26	chr3:47787198..47789332-chr3:47822441..47824997,2	K562	blood:
27	chr3:47555041..47556961-chr3:47821638..47825112,3	MCF-7	breast:
28	chr3:47617723..47621182-chr3:47821900..47825077,3	MCF-7	breast:
29	chr3:47139097..47140627-chr3:47822792..47824576,2	K562	blood:
30	chr3:47809506..47818715-chr3:47820075..47824996,15	MCF-7	breast:
31	chr3:47579787..47581854-chr3:47822138..47824570,2	K562	blood:
32	chr3:47821651..47823502-chr3:172427414..172429681,2	MCF-7	breast:
33	chr3:47582862..47584388-chr3:47823797..47825986,2	K562	blood:
34	chr2:10262084..10262617-chr3:47822855..47823557,2	Hela-S3	cervix:
35	chr3:47822503..47823283-chr9:96928496..96929478,2	Hela-S3	cervix:
36	chr3:47820857..47823354-chr3:47836932..47839468,2	K562	blood:
37	chr3:47819996..47824833-chr3:47866390..47869916,6	K562	blood:
38	chr3:47787622..47789169-chr3:47820606..47823344,2	MCF-7	breast:
39	chr1:110527265..110527945-chr3:47823077..47824066,2	Hela-S3	cervix:
40	chr3:47823020..47823962-chr6:43597169..43598056,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SMARCC1	TF binding region
SMARCC1	CpG island
ENSG00000163832	chromatin interactions
ENSG00000125347	chromatin interactions
ENSG00000260170	chromatin interactions
ENSG00000181555	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000145012	chromatin interactions
ENSG00000168710	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000124688	chromatin interactions
ENSG00000266457	chromatin interactions
ENSG00000132153	chromatin interactions
ENSG00000081791	chromatin interactions
ENSG00000160799	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000269946	chromatin interactions
ENSG00000266443	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000148153	chromatin interactions
ENSG00000227036	chromatin interactions
ENSG00000173473	chromatin interactions
ENSG00000114646	chromatin interactions
ENSG00000270959	chromatin interactions
ENSG00000144959	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569613997	chr3:47822256-47822257	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs533652328	chr3:47822275-47822276	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs552033530	chr3:47822302-47822303	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs567042569	chr3:47822332-47822333	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs551632121	chr3:47822347-47822348	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs541055924	chr3:47822351-47822352	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs559409491	chr3:47822365-47822366	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs534050033	chr3:47822373-47822374	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs1486916	chr3:47822415-47822416	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567554579	chr3:47822447-47822448	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs1486915	chr3:47822543-47822544	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs113025130	chr3:47822618-47822619	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs575189087	chr3:47822633-47822634	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs545668409	chr3:47822651-47822652	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs375790998	chr3:47822737-47822738	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs557550973	chr3:47822747-47822748	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs572955733	chr3:47822770-47822771	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs116195597	chr3:47822814-47822815	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs564970257	chr3:47822816-47822817	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs5016899	chr3:47822847-47822848	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs528973210	chr3:47822876-47822877	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs5016900	chr3:47822877-47822878	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs562447366	chr3:47822882-47822883	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs150894368	chr3:47822915-47822916	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs368507642	chr3:47822917-47822918	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs549288102	chr3:47822948-47822949	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs552068612	chr3:47822967-47822968	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs567079213	chr3:47822984-47822985	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs527837641	chr3:47822999-47823000	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs549306686	chr3:47823021-47823022	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs567787201	chr3:47823047-47823048	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs367823909	chr3:47823067-47823068	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs371266460	chr3:47823084-47823085	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs537934931	chr3:47823089-47823090	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs146832470	chr3:47823153-47823154	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs571276165	chr3:47823180-47823181	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
37	rs539360692	chr3:47823217-47823218	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
38	rs567980975	chr3:47823218-47823219	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
39	rs557587582	chr3:47823244-47823245	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
40	rs201786953	chr3:47823270-47823271	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
41	rs573053461	chr3:47823315-47823316	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
42	rs574150911	chr3:47823335-47823336	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
43	rs534035447	chr3:47823347-47823348	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs555258313	chr3:47823364-47823365	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs573709021	chr3:47823386-47823387	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs187203293	chr3:47823499-47823500	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
47	rs562483680	chr3:47823522-47823523	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
48	rs577672511	chr3:47823534-47823535	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs545717978	chr3:47823538-47823539	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs560887794	chr3:47823539-47823540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47820000-47825200	Active TSS	GM12878-XiMat	blood
2	chr3:47820200-47822600	Active TSS	Brain Germinal Matrix	brain
3	chr3:47820600-47823200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr3:47820600-47823800	Active TSS	Fetal Brain Male	brain
5	chr3:47820800-47822400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:47820800-47823000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr3:47820800-47823800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:47820800-47824000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr3:47820800-47824200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:47821000-47822400	Enhancers	Stomach Mucosa	stomach
11	chr3:47821000-47822400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr3:47821000-47822800	Active TSS	Right Atrium	heart
13	chr3:47821000-47824200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:47821000-47824200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:47821000-47824600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:47821200-47822600	Weak transcription	Small Intestine	intestine
17	chr3:47821200-47822600	Weak transcription	Spleen	Spleen
18	chr3:47821200-47822800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:47821200-47822800	Flanking Active TSS	Liver	Liver
20	chr3:47821200-47823400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:47821200-47823600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:47821200-47823800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr3:47821200-47823800	Active TSS	Fetal Intestine Large	intestine
24	chr3:47821200-47823800	Active TSS	HMEC	breast
25	chr3:47821200-47823800	Active TSS	HSMMtube	muscle
26	chr3:47821200-47824000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr3:47821200-47824000	Active TSS	Fetal Brain Female	brain
28	chr3:47821200-47824000	Active TSS	Thymus	Thymus
29	chr3:47821200-47824000	Active TSS	NHDF-Ad	bronchial
30	chr3:47821200-47824200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr3:47821200-47824200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:47821200-47824200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:47821200-47824400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr3:47821200-47824400	Active TSS	NHLF	lung
35	chr3:47821400-47822800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr3:47821400-47823400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:47821400-47823800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr3:47821400-47823800	Active TSS	Fetal Intestine Small	intestine
39	chr3:47821400-47823800	Active TSS	Fetal Lung	lung
40	chr3:47821400-47823800	Active TSS	NH-A	brain
41	chr3:47821400-47824000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr3:47821400-47824000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:47821400-47824200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:47821400-47824200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:47821400-47824200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:47821400-47824200	Active TSS	Fetal Stomach	stomach
47	chr3:47821400-47824400	Active TSS	A549	lung
48	chr3:47821400-47824600	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr3:47821400-47824600	Active TSS	Colonic Mucosa	Colon
50	chr3:47821400-47824600	Active TSS	Pancreatic Islets	Pancreatic Islet

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