Variant report

Variant	esv3325134
Chromosome Location	chr3:155587683-155590231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:870)
CpG islands
(count:794)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:155587724-155588076	K562	blood:	n/a	n/a
2	ARID3A	chr3:155588785-155588825	HepG2	liver:	n/a	n/a
3	BACH1	chr3:155588396-155588444	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr3:155589041-155589237	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:155587881-155588143	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr3:155588254-155588744	A549	lung:	n/a	chr3:155588408-155588421 chr3:155588635-155588648 chr3:155588634-155588643 chr3:155588341-155588354
7	BCLAF1	chr3:155588193-155588728	K562	blood:	n/a	chr3:155588408-155588421 chr3:155588635-155588648 chr3:155588203-155588212 chr3:155588634-155588643 chr3:155588341-155588354
8	BCLAF1	chr3:155588274-155588625	GM12878	blood:	n/a	chr3:155588408-155588421 chr3:155588341-155588354
9	BCLAF1	chr3:155589272-155589657	GM12878	blood:	n/a	n/a
10	BHLHE40	chr3:155588855-155588871	K562	blood:	n/a	n/a
11	BHLHE40	chr3:155589103-155590140	K562	blood:	n/a	n/a
12	BHLHE40	chr3:155588928-155589789	GM12878	blood:	n/a	n/a
13	BHLHE40	chr3:155587910-155588579	HepG2	liver:	n/a	chr3:155588405-155588421 chr3:155588479-155588495
14	BHLHE40	chr3:155587867-155588626	K562	blood:	n/a	chr3:155588405-155588421 chr3:155588479-155588495
15	BHLHE40	chr3:155587843-155588609	GM12878	blood:	n/a	chr3:155588405-155588421 chr3:155588479-155588495
16	BRCA1	chr3:155588005-155588051	GM12878	blood:	n/a	n/a
17	BRCA1	chr3:155589944-155590139	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr3:155588405-155588561	GM12878	blood:	n/a	n/a
19	BRCA1	chr3:155588371-155588621	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr3:155587948-155588129	HepG2	liver:	n/a	n/a
21	CBX3	chr3:155587817-155588744	K562	blood:	n/a	n/a
22	CCNT2	chr3:155587761-155589865	K562	blood:	n/a	chr3:155588767-155588776 chr3:155589135-155589144 chr3:155589303-155589312
23	CCNT2	chr3:155590121-155590321	K562	blood:	n/a	n/a
24	CEBPB	chr3:155587658-155588632	HepG2	liver:	n/a	chr3:155588493-155588504
25	CEBPB	chr3:155587671-155588084	K562	blood:	n/a	n/a
26	CEBPB	chr3:155589272-155589287	K562	blood:	n/a	n/a
27	CEBPB	chr3:155588315-155588638	K562	blood:	n/a	chr3:155588493-155588504
28	CEBPB	chr3:155588380-155588533	HepG2	liver:	n/a	chr3:155588493-155588504
29	CEBPB	chr3:155588311-155588651	K562	blood:	n/a	chr3:155588493-155588504
30	CEBPB	chr3:155590056-155590207	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr3:155587628-155588695	Hela-S3	cervix:	n/a	chr3:155588493-155588504
32	CEBPB	chr3:155588358-155588587	H1-hESC	embryonic stem cell:	n/a	chr3:155588493-155588504
33	CEBPB	chr3:155587710-155587954	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPD	chr3:155588255-155588713	K562	blood:	n/a	n/a
35	CEBPD	chr3:155587894-155588235	HepG2	liver:	n/a	n/a
36	CHD1	chr3:155589586-155589818	GM12878	blood:	n/a	n/a
37	CHD1	chr3:155587639-155587813	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr3:155589197-155589639	H1-hESC	embryonic stem cell:	n/a	chr3:155589512-155589522
39	CHD1	chr3:155588477-155588689	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr3:155588340-155588994	GM12878	blood:	n/a	chr3:155588955-155588965
41	CHD1	chr3:155588039-155588157	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr3:155590216-155590382	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr3:155588357-155589651	HepG2	liver:	n/a	chr3:155588955-155588965 chr3:155589512-155589522
44	CHD2	chr3:155588035-155589582	GM12878	blood:	n/a	chr3:155588955-155588965 chr3:155589512-155589522
45	CHD2	chr3:155587838-155588693	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr3:155587885-155589710	Hela-S3	cervix:	n/a	chr3:155588955-155588965 chr3:155589512-155589522
47	CHD2	chr3:155587704-155589600	K562	blood:	n/a	chr3:155588955-155588965 chr3:155589512-155589522
48	CREB1	chr3:155587805-155589732	HepG2	liver:	n/a	n/a
49	CREB1	chr3:155588863-155589705	A549	lung:	n/a	n/a
50	CREB1	chr3:155587996-155588701	A549	lung:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:155588016-155588066	SK-N-SH	brain:	n/a
2	chr3:155588016-155588066	SK-N-SH	brain:	n/a
3	chr3:155588016-155588066	HRCEpiC	kidney:	n/a
4	chr3:155587661-155587711	HEEpiC	esophagus:	n/a
5	chr3:155588370-155588420	ProgFib	skin:	n/a
6	chr3:155588124-155588174	GM12878	blood:	n/a
7	chr3:155587661-155587711	MCF-7	breast:	n/a
8	chr3:155588382-155588432	T-47D	breast:	n/a
9	chr3:155588712-155588762	SKMC	muscle:	n/a
10	chr3:155588124-155588174	A549	lung:	n/a
11	chr3:155589075-155589125	ProgFib	skin:	n/a
12	chr3:155588124-155588174	GM12891	blood:	n/a
13	chr3:155588712-155588762	GM06990	blood:	n/a
14	chr3:155587952-155588002	ovcar-3	ovarian:	n/a
15	chr3:155588712-155588762	AG04450	lung:	fetal
16	chr3:155588370-155588420	SK-N-MC	brain:	n/a
17	chr3:155588712-155588762	AG04449	skin:	fetal
18	chr3:155589075-155589125	HIPEpiC	eye:	n/a
19	chr3:155588060-155588110	HCM	heart:	n/a
20	chr3:155588060-155588110	GM12892	blood:	n/a
21	chr3:155587661-155587711	GM12891	blood:	n/a
22	chr3:155587952-155588002	PFSK-1	brain:	n/a
23	chr3:155587952-155588002	BJ	skin:	n/a
24	chr3:155587661-155587711	HMEC	breast:	n/a
25	chr3:155588370-155588420	NH-A	brain:	n/a
26	chr3:155589075-155589125	HRPEpiC	eye:	n/a
27	chr3:155588136-155588186	NB4	blood:	n/a
28	chr3:155588060-155588110	HCF	heart:	n/a
29	chr3:155588370-155588420	SAEC	small airway:	n/a
30	chr3:155589573-155589623	SK-N-MC	brain:	n/a
31	chr3:155589075-155589125	HCF	heart:	n/a
32	chr3:155588124-155588174	ProgFib	skin:	n/a
33	chr3:155588010-155588060	AG09319	gingival:	n/a
34	chr3:155588136-155588186	PANC-1	pancreas:	n/a
35	chr3:155589903-155589953	HCPEpiC	choroid plexus:	n/a
36	chr3:155588136-155588186	H1-hESC	embryonic stem cell:	embryo
37	chr3:155588382-155588432	HRE	kidney:	n/a
38	chr3:155589075-155589125	AG04449	skin:	fetal
39	chr3:155588370-155588420	ECC-1	luminal epithelium:	n/a
40	chr3:155588016-155588066	ECC-1	luminal epithelium:	n/a
41	chr3:155588370-155588420	BJ	skin:	n/a
42	chr3:155587661-155587711	IMR90	lung:	fetal
43	chr3:155589573-155589623	BJ	skin:	n/a
44	chr3:155588060-155588110	AG09309	skin:	n/a
45	chr3:155588382-155588432	HCM	heart:	n/a
46	chr3:155589075-155589125	HCM	heart:	n/a
47	chr3:155589075-155589125	PrEC	prostate:	n/a
48	chr3:155589573-155589623	SK-N-SH_RA	brain:	n/a
49	chr3:155589903-155589953	SKMC	muscle:	n/a
50	chr3:155588060-155588110	HEEpiC	esophagus:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:155461486..155465793-chr3:155586998..155592801,6	K562	blood:
2	chr3:155461195..155464539-chr3:155588373..155590107,3	MCF-7	breast:
3	chr3:155461523..155464397-chr3:155587900..155591398,5	MCF-7	breast:
4	chr17:47269616..47270188-chr3:155588780..155589530,2	Hela-S3	cervix:
5	chr10:27530732..27532552-chr3:155587161..155588906,2	MCF-7	breast:
6	chr20:52490662..52493657-chr3:155587949..155590436,2	MCF-7	breast:
7	chr3:155586547..155588282-chr3:156889087..156891969,2	MCF-7	breast:
8	chr3:155508129..155511910-chr3:155589025..155592150,5	K562	blood:
9	chr3:155542984..155546032-chr3:155588634..155590406,3	K562	blood:
10	chr3:155588737..155589548-chr6:79787120..79787910,2	Hela-S3	cervix:
11	chr3:155588914..155589438-chr5:122758485..122759116,2	Hela-S3	cervix:
12	chr3:155568718..155574348-chr3:155586235..155593210,15	K562	blood:
13	chr11:65624679..65625310-chr3:155588496..155589399,2	Hela-S3	cervix:
14	chr3:155520823..155524412-chr3:155585049..155590112,5	MCF-7	breast:
15	chr3:155477418..155480054-chr3:155586699..155588871,2	MCF-7	breast:
16	chr12:57481089..57481593-chr3:155588853..155589555,2	Hela-S3	cervix:
17	chr3:155588335..155588840-chr3:196668960..196669519,2	Hela-S3	cervix:
18	chr3:155522507..155525053-chr3:155587874..155590161,2	MCF-7	breast:
19	chr3:155461486..155463918-chr3:155586998..155589713,4	K562	blood:
20	chr3:155522036..155526613-chr3:155586597..155592084,8	K562	blood:
21	chr3:155546434..155549740-chr3:155588922..155591609,3	K562	blood:
22	chr3:155569630..155574596-chr3:155585012..155589734,13	MCF-7	breast:
23	chr3:155588991..155589767-chr8:42561392..42562198,2	MCF-7	breast:
24	chr17:41444827..41445515-chr3:155589052..155589685,2	Hela-S3	cervix:
25	chr12:52446751..52447647-chr3:155588925..155589570,2	Hela-S3	cervix:
26	chr3:155520264..155525290-chr3:155586627..155590296,8	K562	blood:
27	chr14:24036599..24037349-chr3:155587998..155588957,2	HCT-116	colon:
28	chr3:155570444..155573449-chr3:155586982..155591161,10	MCF-7	breast:
29	chr19:571619..572299-chr3:155588026..155588830,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
GMPS	TF binding region
GMPS	CpG island
ENSG00000270170	chromatin interactions
ENSG00000262412	chromatin interactions
ENSG00000169359	chromatin interactions
ENSG00000222675	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000241307	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000241721	chromatin interactions
ENSG00000107897	chromatin interactions
ENSG00000213983	chromatin interactions
ENSG00000214919	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000114805	chromatin interactions
ENSG00000174928	chromatin interactions
ENSG00000267751	chromatin interactions
ENSG00000114503	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367584109	chr3:155587698-155587699	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs199661864	chr3:155587699-155587700	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs35386649	chr3:155587700-155587701	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs56306466	chr3:155587701-155587702	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs397785845	chr3:155587702-155587703	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs397813293	chr3:155587707-155587708	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs148322265	chr3:155587740-155587741	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs563750222	chr3:155587748-155587749	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs114064048	chr3:155587777-155587778	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs549940953	chr3:155587781-155587782	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs111469501	chr3:155587796-155587797	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs181272404	chr3:155587888-155587889	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs116432795	chr3:155587915-155587916	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs565300837	chr3:155587937-155587938	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs535827219	chr3:155587946-155587947	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs547907740	chr3:155588017-155588018	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs569728733	chr3:155588029-155588030	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs186485165	chr3:155588060-155588061	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs559065848	chr3:155588106-155588107	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs577469521	chr3:155588113-155588114	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs535302978	chr3:155588114-155588115	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs553687060	chr3:155588126-155588127	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs574914550	chr3:155588137-155588138	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs370189839	chr3:155588145-155588146	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs11706359	chr3:155588148-155588149	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs5853732	chr3:155588171-155588172	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs397875277	chr3:155588173-155588174	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs111595681	chr3:155588328-155588329	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs563675696	chr3:155588344-155588345	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs575654843	chr3:155588417-155588418	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs543257801	chr3:155588421-155588422	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs11547948	chr3:155588465-155588466	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs145921544	chr3:155588605-155588606	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs138962852	chr3:155588637-155588638	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs547319646	chr3:155588679-155588680	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs9868194	chr3:155588695-155588696	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529687643	chr3:155588786-155588787	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs547772766	chr3:155588810-155588811	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs569659156	chr3:155588912-155588913	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs373047615	chr3:155588917-155588918	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs552513105	chr3:155588966-155588967	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs571061260	chr3:155588990-155588991	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs113490143	chr3:155589055-155589056	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs535209085	chr3:155589073-155589074	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs376628880	chr3:155589118-155589119	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs568764180	chr3:155589137-155589138	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs535863058	chr3:155589212-155589213	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs557278447	chr3:155589213-155589214	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs575673906	chr3:155589236-155589237	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs573353778	chr3:155589283-155589284	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155587000-155587800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:155587200-155587800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:155587200-155587800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:155587200-155588000	Flanking Active TSS	K562	blood
5	chr3:155587400-155587800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:155587400-155587800	Enhancers	Primary B cells from peripheral blood	blood
7	chr3:155587400-155587800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:155587400-155587800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr3:155587400-155587800	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr3:155587400-155588000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:155587400-155588000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:155587400-155588000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:155587400-155588000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr3:155587400-155588000	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr3:155587400-155588000	Flanking Active TSS	Dnd41	blood
16	chr3:155587400-155588000	Flanking Active TSS	Hela-S3	cervix
17	chr3:155587400-155588200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:155587400-155590000	Active TSS	Aorta	Aorta
19	chr3:155587400-155590600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:155587400-155590600	Active TSS	HepG2	liver
21	chr3:155587400-155591000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr3:155587600-155587800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:155587600-155587800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr3:155587600-155587800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr3:155587600-155587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:155587600-155587800	Flanking Active TSS	Colonic Mucosa	Colon
27	chr3:155587600-155587800	Enhancers	Fetal Brain Male	brain
28	chr3:155587600-155587800	Flanking Active TSS	Fetal Kidney	kidney
29	chr3:155587600-155587800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr3:155587600-155587800	Enhancers	Fetal Lung	lung
31	chr3:155587600-155587800	Active TSS	Fetal Muscle Trunk	muscle
32	chr3:155587600-155587800	Enhancers	Placenta	Placenta
33	chr3:155587600-155587800	Enhancers	Pancreas	Pancrea
34	chr3:155587600-155587800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr3:155587600-155587800	Enhancers	Small Intestine	intestine
36	chr3:155587600-155587800	Enhancers	Stomach Mucosa	stomach
37	chr3:155587600-155588000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:155587600-155588000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:155587600-155588000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:155587600-155588000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr3:155587600-155588000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr3:155587600-155588000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr3:155587600-155588000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr3:155587600-155588000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr3:155587600-155588000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr3:155587600-155588000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:155587600-155588000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr3:155587600-155588000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr3:155587600-155588000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr3:155587600-155588000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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