Variant report

Variant	esv3420624
Chromosome Location	chr3:150478562-150482960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1127)
CpG islands
(count:976)
Chromatin interactive
region (count:51)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1127 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:150481900-150481978	K562	blood:	n/a	n/a
2	ARID3A	chr3:150478321-150478599	K562	blood:	n/a	n/a
3	ARID3A	chr3:150479387-150479661	K562	blood:	n/a	n/a
4	ARID3A	chr3:150481554-150482096	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:150481399-150481536	K562	blood:	n/a	n/a
6	ARID3A	chr3:150480940-150481121	HepG2	liver:	n/a	n/a
7	ATF2	chr3:150481190-150481591	GM12878	blood:	n/a	n/a
8	ATF2	chr3:150477978-150478809	GM12878	blood:	n/a	n/a
9	ATF2	chr3:150477935-150478865	GM12878	blood:	n/a	n/a
10	ATF2	chr3:150480894-150482108	GM12878	blood:	n/a	chr3:150480943-150480957
11	ATF3	chr3:150480649-150481492	A549	lung:	n/a	n/a
12	ATF3	chr3:150480753-150481109	K562	blood:	n/a	n/a
13	ATF3	chr3:150481283-150481730	A549	lung:	n/a	n/a
14	ATF3	chr3:150480818-150481224	K562	blood:	n/a	n/a
15	ATF3	chr3:150480746-150481127	HepG2	liver:	n/a	n/a
16	ATF3	chr3:150481197-150481578	K562	blood:	n/a	n/a
17	BACH1	chr3:150480818-150481889	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr3:150481410-150481815	K562	blood:	n/a	n/a
19	BATF	chr3:150478381-150478837	GM12878	blood:	n/a	n/a
20	BATF	chr3:150481307-150481568	GM12878	blood:	n/a	chr3:150481392-150481402 chr3:150481391-150481402
21	BCL11A	chr3:150478302-150478696	GM12878	blood:	n/a	chr3:150478323-150478332
22	BCL3	chr3:150481254-150481809	A549	lung:	n/a	n/a
23	BCL3	chr3:150480798-150481274	GM12878	blood:	n/a	chr3:150480817-150480830
24	BCL3	chr3:150478029-150478765	GM12878	blood:	n/a	chr3:150478323-150478332
25	BCL3	chr3:150480727-150481555	GM12878	blood:	n/a	chr3:150480817-150480830
26	BCLAF1	chr3:150478062-150479041	GM12878	blood:	n/a	chr3:150478323-150478332
27	BCLAF1	chr3:150480807-150482057	GM12878	blood:	n/a	chr3:150480817-150480830
28	BCLAF1	chr3:150480702-150482136	GM12878	blood:	n/a	chr3:150480817-150480830
29	BHLHE40	chr3:150478572-150478639	K562	blood:	n/a	n/a
30	BHLHE40	chr3:150480726-150481935	GM12878	blood:	n/a	n/a
31	BHLHE40	chr3:150482380-150482510	GM12878	blood:	n/a	n/a
32	BHLHE40	chr3:150480766-150482035	HepG2	liver:	n/a	n/a
33	BHLHE40	chr3:150479641-150479998	K562	blood:	n/a	n/a
34	BHLHE40	chr3:150480786-150482009	K562	blood:	n/a	n/a
35	BHLHE40	chr3:150478279-150478758	GM12878	blood:	n/a	n/a
36	BHLHE40	chr3:150480218-150480367	K562	blood:	n/a	n/a
37	BRCA1	chr3:150480858-150482222	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr3:150479697-150479949	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr3:150480898-150481140	HepG2	liver:	n/a	n/a
40	BRCA1	chr3:150480990-150480992	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr3:150481390-150481561	HepG2	liver:	n/a	n/a
42	CBX3	chr3:150480834-150482040	K562	blood:	n/a	n/a
43	CCNT2	chr3:150479790-150481952	K562	blood:	n/a	n/a
44	CEBPB	chr3:150481125-150481994	GM12878	blood:	n/a	n/a
45	CEBPB	chr3:150480777-150481885	IMR90	lung:	n/a	n/a
46	CEBPB	chr3:150480753-150482032	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr3:150480794-150481214	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr3:150480819-150481050	HepG2	liver:	n/a	n/a
49	CEBPB	chr3:150480779-150481303	HepG2	liver:	n/a	n/a
50	CEBPB	chr3:150480798-150481133	K562	blood:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150481327-150481377	HIPEpiC	eye:	n/a
2	chr3:150481511-150481561	HCM	heart:	n/a
3	chr3:150481783-150481833	LNCaP	prostate:	n/a
4	chr3:150481327-150481377	ECC-1	luminal epithelium:	n/a
5	chr3:150480910-150480960	MCF10A-Er-Src	breast:	n/a
6	chr3:150481511-150481561	T-47D	breast:	n/a
7	chr3:150481327-150481377	Hela-S3	cervix:	n/a
8	chr3:150481348-150481398	ProgFib	skin:	n/a
9	chr3:150480910-150480960	ovcar-3	ovarian:	n/a
10	chr3:150480033-150480083	HAEpiC	amniotic membrane:	n/a
11	chr3:150479830-150479880	H1-hESC	embryonic stem cell:	embryo
12	chr3:150481321-150481371	MCF-7	breast:	n/a
13	chr3:150479084-150479134	IMR90	lung:	fetal
14	chr3:150481327-150481377	HRCEpiC	kidney:	n/a
15	chr3:150481914-150481964	GM06990	blood:	n/a
16	chr3:150481914-150481964	NHBE	bronchial:	n/a
17	chr3:150481287-150481337	A549	lung:	n/a
18	chr3:150479760-150479810	AG10803	skin:	n/a
19	chr3:150481409-150481459	GM06990	blood:	n/a
20	chr3:150481348-150481398	GM19239	blood:	n/a
21	chr3:150480280-150480330	GM12878	blood:	n/a
22	chr3:150481511-150481561	AG09319	gingival:	n/a
23	chr3:150481914-150481964	NHDF-neo	bronchial:	n/a
24	chr3:150479830-150479880	MCF-7	breast:	n/a
25	chr3:150481126-150481176	Jurkat	blood:	n/a
26	chr3:150480280-150480330	NHBE	bronchial:	n/a
27	chr3:150479830-150479880	AG09309	skin:	n/a
28	chr3:150481409-150481459	NT2-D1	testis:	n/a
29	chr3:150481783-150481833	HRE	kidney:	n/a
30	chr3:150480280-150480330	HEK293	kidney:	embryo
31	chr3:150481783-150481833	MCF10A-Er-Src	breast:	n/a
32	chr3:150479830-150479880	PrEC	prostate:	n/a
33	chr3:150481348-150481398	CMK	blood:	n/a
34	chr3:150479915-150479965	SAEC	small airway:	n/a
35	chr3:150479830-150479880	PANC-1	pancreas:	n/a
36	chr3:150480280-150480330	NT2-D1	testis:	n/a
37	chr3:150481126-150481176	Hepatocyte	liver:	n/a
38	chr3:150481321-150481371	HIPEpiC	eye:	n/a
39	chr3:150479915-150479965	ECC-1	luminal epithelium:	n/a
40	chr3:150481126-150481176	HCT-116	colon:	n/a
41	chr3:150481327-150481377	ovcar-3	ovarian:	n/a
42	chr3:150479915-150479965	Jurkat	blood:	n/a
43	chr3:150481126-150481176	SKMC	muscle:	n/a
44	chr3:150479915-150479965	Caco-2	colon:	n/a
45	chr3:150479830-150479880	NHDF-neo	bronchial:	n/a
46	chr3:150481914-150481964	Hela-S3	cervix:	n/a
47	chr3:150481126-150481176	Hela-S3	cervix:	n/a
48	chr3:150481327-150481377	HUVEC	blood vessel:	n/a
49	chr3:150480280-150480330	SK-N-SH	brain:	n/a
50	chr3:150480033-150480083	ECC-1	luminal epithelium:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:150328265..150331845-chr3:150479203..150481571,3	K562	blood:
2	chr3:150480179..150481920-chr5:81573122..81575962,2	MCF-7	breast:
3	chr15:71588021..71588700-chr3:150480360..150481079,2	Hela-S3	cervix:
4	chr3:150481130..150481712-chr3:156892681..156893423,2	Hela-S3	cervix:
5	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:
6	chr16:70557100..70557644-chr3:150481159..150481806,2	Hela-S3	cervix:
7	chr3:150399970..150401503-chr3:150480432..150482241,2	K562	blood:
8	chr1:179851119..179851848-chr3:150479575..150480206,2	Hela-S3	cervix:
9	chr20:55753885..55754468-chr3:150481272..150482133,2	MCF-7	breast:
10	chr3:150476989..150478844-chr3:150495018..150496645,2	MCF-7	breast:
11	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
12	chr3:150419019..150423394-chr3:150479448..150481415,4	MCF-7	breast:
13	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
14	chr3:101280431..101281099-chr3:150480190..150481106,2	Hela-S3	cervix:
15	chr3:150479690..150481282-chr6:76352345..76354574,2	MCF-7	breast:
16	chr17:79825898..79826714-chr3:150481279..150482274,2	Hela-S3	cervix:
17	chr16:18812446..18813204-chr3:150480815..150481315,2	Hela-S3	cervix:
18	chr16:691658..692362-chr3:150480554..150481520,2	Hela-S3	cervix:
19	chr1:165600104..165600758-chr3:150480533..150481145,2	Hela-S3	cervix:
20	chr3:150481412..150481942-chr3:150547893..150548575,2	MCF-7	breast:
21	chr3:150481125..150481655-chr9:127420519..127421247,2	HCT-116	colon:
22	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
23	chr3:150481291..150481796-chr3:150504221..150504737,2	MCF-7	breast:
24	chr3:150379555..150382214-chr3:150476705..150479002,2	K562	blood:
25	chr11:65340013..65340621-chr3:150479913..150480913,2	Hela-S3	cervix:
26	chr20:62496000..62496902-chr3:150480890..150481564,2	Hela-S3	cervix:
27	chr1:153963076..153963645-chr3:150480602..150481470,2	Hela-S3	cervix:
28	chr3:150480540..150481237-chr6:26020610..26021240,2	Hela-S3	cervix:
29	chr22:37956970..37957729-chr3:150481295..150482246,2	Hela-S3	cervix:
30	chr12:123717282..123717840-chr3:150480496..150481372,2	Hela-S3	cervix:
31	chr3:150438835..150439759-chr3:150481383..150482353,4	MCF-7	breast:
32	chr3:149094494..149095113-chr3:150480059..150480937,2	Hela-S3	cervix:
33	chr3:150421205..150424923-chr3:150480120..150484463,5	MCF-7	breast:
34	chr1:147735548..147736307-chr3:150480950..150481574,2	HCT-116	colon:
35	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
36	chr3:150480176..150481089-chr5:40680039..40680660,2	Hela-S3	cervix:
37	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
38	chr3:150482143..150484358-chr3:150560207..150562152,2	MCF-7	breast:
39	chr1:17231305..17231818-chr3:150479779..150480451,2	Hela-S3	cervix:
40	chr1:161087567..161088346-chr3:150480467..150481143,2	Hela-S3	cervix:
41	chr3:150482246..150483991-chr3:150496557..150499454,2	MCF-7	breast:
42	chr20:30194436..30195217-chr3:150481124..150482095,2	Hela-S3	cervix:
43	chr3:150263797..150265530-chr3:150478854..150481327,3	MCF-7	breast:
44	chr3:150480434..150481052-chr7:45960362..45960974,2	Hela-S3	cervix:
45	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
46	chr12:107364565..107365547-chr3:150481458..150482307,2	Hela-S3	cervix:
47	chr12:112037035..112037635-chr3:150480512..150481076,2	Hela-S3	cervix:
48	chr3:150482364..150486179-chr3:150581053..150584766,4	MCF-7	breast:
49	chr3:150454771..150455427-chr3:150481400..150481906,2	MCF-7	breast:
50	chr14:105957367..105958177-chr3:150481138..150481891,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-392O18.1.1-2	chr3:150480124-150480325	ENSG00000244265.1
2	lnc-RP11-392O18.1.1-2	chr3:150479724-150479962	ENSG00000244265.1

No data

Variant related genes	Relation type
SIAH2	TF binding region
SIAH2-AS1	TF binding region
SIAH2	CpG island
SIAH2-AS1	CpG island
ENSG00000177954	chromatin interactions
ENSG00000224020	chromatin interactions
ENSG00000078369	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000271711	chromatin interactions
ENSG00000174173	chromatin interactions
ENSG00000146674	chromatin interactions
ENSG00000172366	chromatin interactions
ENSG00000240137	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000243176	chromatin interactions
ENSG00000197727	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000186468	chromatin interactions
ENSG00000252498	chromatin interactions
ENSG00000199879	chromatin interactions
ENSG00000258099	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000204842	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000151135	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000101150	chromatin interactions
ENSG00000158793	chromatin interactions
ENSG00000205464	chromatin interactions
ENSG00000163645	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000143256	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000244668	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000198843	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000143198	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552386983	chr3:150478574-150478575	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs190661955	chr3:150478580-150478581	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs182900380	chr3:150478593-150478594	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs537749002	chr3:150478599-150478600	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs576591126	chr3:150478629-150478630	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs529950652	chr3:150478635-150478636	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs145110278	chr3:150478647-150478648	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs147867347	chr3:150478690-150478691	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs570531771	chr3:150478719-150478720	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs553023030	chr3:150478754-150478755	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs560467340	chr3:150478759-150478760	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs113621235	chr3:150478767-150478768	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs545236425	chr3:150478772-150478773	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs527547442	chr3:150478793-150478794	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs552221908	chr3:150478805-150478806	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs565134303	chr3:150478807-150478808	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs374225253	chr3:150478986-150478987	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs575533543	chr3:150479015-150479016	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs115045536	chr3:150479065-150479066	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs117960604	chr3:150479068-150479069	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs1915365	chr3:150479070-150479071	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546555459	chr3:150479075-150479076	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs537426823	chr3:150479104-150479105	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs140215817	chr3:150479111-150479112	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs532238269	chr3:150479130-150479131	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs187002152	chr3:150479140-150479141	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs75445178	chr3:150479149-150479150	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs114737217	chr3:150479162-150479163	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs548151795	chr3:150479169-150479170	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs567675280	chr3:150479179-150479180	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs190267941	chr3:150479199-150479200	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs552939246	chr3:150479230-150479231	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs568072471	chr3:150479280-150479281	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs145612725	chr3:150479355-150479356	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs147722099	chr3:150479367-150479368	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs73010942	chr3:150479385-150479386	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs368025159	chr3:150479484-150479485	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs183036398	chr3:150479540-150479541	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs187661754	chr3:150479575-150479576	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs561449878	chr3:150479638-150479639	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs575063794	chr3:150479691-150479692	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs536056274	chr3:150479716-150479717	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs553914204	chr3:150479747-150479748	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
44	rs370613862	chr3:150479776-150479777	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
45	rs1838337	chr3:150479816-150479817	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532250574	chr3:150479916-150479917	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
47	rs552262474	chr3:150479950-150479951	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
48	rs368706128	chr3:150479975-150479976	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs562689470	chr3:150480029-150480030	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs539773437	chr3:150480035-150480036	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150457000-150478800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:150470000-150478800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:150471200-150479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:150471600-150479600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:150474000-150478800	Enhancers	Small Intestine	intestine
6	chr3:150475000-150479800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr3:150475400-150480400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:150477000-150479000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:150477000-150479400	Flanking Active TSS	Liver	Liver
10	chr3:150477000-150479400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr3:150477200-150479800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr3:150477200-150480400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr3:150477400-150478600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:150477400-150478800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:150477400-150480000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:150477600-150478600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:150477600-150478600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:150477600-150479000	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr3:150477600-150479200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:150477600-150479200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr3:150477600-150479200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:150477600-150479200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:150477600-150479600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:150477600-150479600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr3:150477600-150479800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr3:150477600-150480200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:150477600-150480400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr3:150477800-150478600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr3:150477800-150478800	Enhancers	Fetal Intestine Large	intestine
30	chr3:150477800-150478800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr3:150477800-150478800	Transcr. at gene 5' and 3'	K562	blood
32	chr3:150477800-150478800	Flanking Active TSS	NHLF	lung
33	chr3:150477800-150479000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:150477800-150479000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr3:150477800-150479000	Enhancers	Brain Substantia Nigra	brain
36	chr3:150477800-150479000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:150477800-150479400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr3:150477800-150479400	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr3:150477800-150479400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr3:150477800-150479400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr3:150477800-150479400	Flanking Active TSS	HUVEC	blood vessel
42	chr3:150477800-150479400	Flanking Active TSS	Osteobl	bone
43	chr3:150477800-150479600	Weak transcription	Gastric	stomach
44	chr3:150477800-150479800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr3:150477800-150479800	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr3:150477800-150480000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr3:150478000-150478600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:150478000-150478600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:150478000-150478600	Active TSS	Esophagus	oesophagus
50	chr3:150478000-150478600	Enhancers	Left Ventricle	heart

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