Variant report

Variant	esv3394135
Chromosome Location	chr8:120219596-120222144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:120221311-120221313	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:120221560-120222090	HepG2	liver:	n/a	n/a
3	ATF2	chr8:120221817-120222204	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr8:120220255-120220619	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr8:120221637-120222234	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr8:120220278-120220621	H1-hESC	embryonic stem cell:	n/a	chr8:120220554-120220563 chr8:120220545-120220565
7	ATF3	chr8:120220249-120220616	H1-hESC	embryonic stem cell:	n/a	chr8:120220554-120220563 chr8:120220545-120220565
8	ATF3	chr8:120220315-120220714	HepG2	liver:	n/a	chr8:120220554-120220563 chr8:120220545-120220565
9	BACH1	chr8:120219974-120220620	H1-hESC	embryonic stem cell:	n/a	n/a
10	BHLHE40	chr8:120220433-120220548	GM12878	blood:	n/a	n/a
11	BHLHE40	chr8:120220165-120222098	HepG2	liver:	n/a	n/a
12	BHLHE40	chr8:120220343-120220674	HepG2	liver:	n/a	n/a
13	BRCA1	chr8:120221100-120222286	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr8:120218985-120219728	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr8:120220302-120220502	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr8:120220939-120222258	Hela-S3	cervix:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
17	CEBPB	chr8:120221042-120222094	ECC-1	luminal epithelium:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
18	CEBPB	chr8:120221343-120222022	A549	lung:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
19	CEBPB	chr8:120221023-120222275	MCF-7	breast:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
20	CEBPB	chr8:120221428-120221914	A549	lung:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
21	CEBPB	chr8:120220260-120220724	MCF-7	breast:	n/a	n/a
22	CEBPB	chr8:120221404-120221937	IMR90	lung:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
23	CEBPB	chr8:120220366-120220491	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr8:120221507-120221917	HepG2	liver:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
25	CEBPB	chr8:120219309-120219624	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr8:120220283-120220650	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr8:120221197-120222187	HepG2	liver:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
28	CEBPB	chr8:120220302-120220653	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:120221350-120221987	ECC-1	luminal epithelium:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
30	CEBPB	chr8:120221225-120222161	H1-hESC	embryonic stem cell:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
31	CEBPB	chr8:120221126-120222203	HepG2	liver:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
32	CEBPB	chr8:120221363-120222046	HepG2	liver:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
33	CEBPB	chr8:120221170-120222238	MCF-7	breast:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
34	CEBPB	chr8:120221474-120221932	A549	lung:	n/a	chr8:120221737-120221748 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221567-120221576 chr8:120221736-120221747 chr8:120221875-120221888 chr8:120221751-120221762
35	CEBPD	chr8:120221624-120222062	HepG2	liver:	n/a	n/a
36	CEBPD	chr8:120221564-120221905	HepG2	liver:	n/a	chr8:120221567-120221576
37	CHD1	chr8:120221098-120221099	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr8:120221391-120221752	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr8:120221155-120221441	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr8:120220227-120222229	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220587-120220597 chr8:120221047-120221057
41	CHD2	chr8:120220127-120220591	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr8:120221930-120222134	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr8:120221187-120221893	HepG2	liver:	n/a	n/a
44	CREB1	chr8:120220258-120220747	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr8:120220956-120221222	A549	lung:	n/a	n/a
46	CTCF	chr8:120221620-120221770	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr8:120220428-120220492	MCF-7	breast:	n/a	n/a
48	CTCF	chr8:120220421-120220496	MCF-7	breast:	n/a	n/a
49	CTCF	chr8:120220082-120220114	MCF-7	breast:	n/a	n/a
50	CTCF	chr8:120221100-120221250	SAEC	small airway:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:120220882-120220932	U87	brain:	n/a
2	chr8:120219927-120219977	HepG2	liver:	n/a
3	chr8:120220131-120220181	AoSMC	blood vessel:	n/a
4	chr8:120220032-120220082	NB4	blood:	n/a
5	chr8:120220462-120220512	HRCEpiC	kidney:	n/a
6	chr8:120219927-120219977	Caco-2	colon:	n/a
7	chr8:120220882-120220932	ProgFib	skin:	n/a
8	chr8:120220882-120220932	AG04450	lung:	fetal
9	chr8:120221268-120221318	NB4	blood:	n/a
10	chr8:120221268-120221318	BJ	skin:	n/a
11	chr8:120220856-120220906	AG04449	skin:	fetal
12	chr8:120221797-120221847	NHBE	bronchial:	n/a
13	chr8:120220882-120220932	AG04449	skin:	fetal
14	chr8:120220094-120220144	HL-60	blood:	n/a
15	chr8:120220856-120220906	HNPCEpiC	eye:	n/a
16	chr8:120220484-120220534	A549	lung:	n/a
17	chr8:120220032-120220082	AG09319	gingival:	n/a
18	chr8:120220799-120220849	HAEpiC	amniotic membrane:	n/a
19	chr8:120220462-120220512	SK-N-SH	brain:	n/a
20	chr8:120220856-120220906	HPAEpiC	pulmonary alveolar:	n/a
21	chr8:120221185-120221235	A549	lung:	n/a
22	chr8:120220484-120220534	HNPCEpiC	eye:	n/a
23	chr8:120220462-120220512	SK-N-MC	brain:	n/a
24	chr8:120220050-120220100	PFSK-1	brain:	n/a
25	chr8:120220882-120220932	SK-N-SH_RA	brain:	n/a
26	chr8:120221268-120221318	PrEC	prostate:	n/a
27	chr8:120220050-120220100	PANC-1	pancreas:	n/a
28	chr8:120220484-120220534	LNCaP	prostate:	n/a
29	chr8:120221268-120221318	RPTEC	kidney:	n/a
30	chr8:120219902-120219952	HMEC	breast:	n/a
31	chr8:120220050-120220100	ECC-1	luminal epithelium:	n/a
32	chr8:120220410-120220460	AG09319	gingival:	n/a
33	chr8:120220131-120220181	Hela-S3	cervix:	n/a
34	chr8:120220073-120220123	GM12892	blood:	n/a
35	chr8:120221185-120221235	NHDF-neo	bronchial:	n/a
36	chr8:120220073-120220123	ECC-1	luminal epithelium:	n/a
37	chr8:120220882-120220932	HRCEpiC	kidney:	n/a
38	chr8:120219902-120219952	RPTEC	kidney:	n/a
39	chr8:120220882-120220932	NT2-D1	testis:	n/a
40	chr8:120220882-120220932	RPTEC	kidney:	n/a
41	chr8:120220050-120220100	SKMC	muscle:	n/a
42	chr8:120220050-120220100	GM12891	blood:	n/a
43	chr8:120220050-120220100	HRPEpiC	eye:	n/a
44	chr8:120220484-120220534	AG04449	skin:	fetal
45	chr8:120221185-120221235	K562	blood:	n/a
46	chr8:120220131-120220181	HepG2	liver:	n/a
47	chr8:120220799-120220849	SK-N-SH_RA	brain:	n/a
48	chr8:120220882-120220932	K562	blood:	n/a
49	chr8:120220882-120220932	PFSK-1	brain:	n/a
50	chr8:120220484-120220534	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:57923593..57925811-chr8:120219201..120221264,2	MCF-7	breast:
2	chr5:43483317..43484109-chr8:120219923..120220769,2	Hela-S3	cervix:
3	chr17:56707810..56710447-chr8:120218962..120221628,2	MCF-7	breast:

Variant related genes	Relation type
MAL2	TF binding region
MAL2	CpG island
ENSG00000201524	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000249492	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543924816	chr8:120219601-120219602	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs565257590	chr8:120219614-120219615	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562304655	chr8:120219615-120219616	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs143067625	chr8:120219618-120219619	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs372058885	chr8:120219638-120219639	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs117506998	chr8:120219672-120219673	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs147484243	chr8:120219704-120219705	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs530462340	chr8:120219727-120219728	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373718722	chr8:120219752-120219753	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs201780030	chr8:120219795-120219796	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs398086953	chr8:120219803-120219804	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs372735640	chr8:120219804-120219805	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs377353961	chr8:120219805-120219806	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs548589407	chr8:120219898-120219899	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs77253513	chr8:120219901-120219902	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs530988384	chr8:120219910-120219911	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs548884296	chr8:120219928-120219929	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs190706825	chr8:120219939-120219940	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs570224610	chr8:120220009-120220010	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs183944140	chr8:120220017-120220018	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs929953	chr8:120220033-120220034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13256406	chr8:120220148-120220149	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188792376	chr8:120220211-120220212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs556955682	chr8:120220212-120220213	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs75060383	chr8:120220236-120220237	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs148500776	chr8:120220245-120220246	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs112798936	chr8:120220305-120220306	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs568786341	chr8:120220347-120220348	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs577419118	chr8:120220349-120220350	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs541534555	chr8:120220378-120220379	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs79101885	chr8:120220400-120220401	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs368838280	chr8:120220424-120220425	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs574867308	chr8:120220471-120220472	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs142815495	chr8:120220479-120220480	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs192559059	chr8:120220491-120220492	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs3739420	chr8:120220595-120220596	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560187611	chr8:120220624-120220625	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs527586521	chr8:120220653-120220654	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs35703322	chr8:120220668-120220669	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs531196422	chr8:120220675-120220676	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs552500910	chr8:120220762-120220763	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs71302978	chr8:120220776-120220777	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs398009582	chr8:120220779-120220780	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs564340125	chr8:120220795-120220796	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs567929320	chr8:120220869-120220870	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs139965999	chr8:120220907-120220908	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs567745674	chr8:120220931-120220932	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs531539440	chr8:120220970-120220971	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs113289278	chr8:120221014-120221015	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs550517556	chr8:120221029-120221030	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120215200-120220000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:120215400-120219600	Enhancers	HMEC	breast
3	chr8:120215400-120219800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:120216200-120220000	Weak transcription	Liver	Liver
5	chr8:120216400-120220000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:120217200-120220000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:120218800-120219600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:120218800-120220000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:120218800-120220400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:120218800-120221600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr8:120219000-120219600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr8:120219000-120219600	Bivalent Enhancer	GM12878-XiMat	blood
13	chr8:120219000-120219800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:120219000-120220000	Weak transcription	Esophagus	oesophagus
15	chr8:120219000-120220000	Bivalent Enhancer	HepG2	liver
16	chr8:120219000-120220200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:120219000-120220400	Flanking Active TSS	NHEK	skin
18	chr8:120219000-120221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:120219200-120219600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr8:120219200-120220800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:120219400-120219600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr8:120219400-120219800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:120219400-120219800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
24	chr8:120219400-120220000	Bivalent Enhancer	Primary T cells from cord blood	blood
25	chr8:120219400-120220000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:120219400-120220000	Active TSS	Stomach Mucosa	stomach
27	chr8:120219400-120220400	Flanking Active TSS	Hela-S3	cervix
28	chr8:120219600-120219800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr8:120219600-120219800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
30	chr8:120219600-120220200	Flanking Active TSS	HMEC	breast
31	chr8:120219600-120220400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr8:120219600-120222200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr8:120219800-120220000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr8:120219800-120220000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:120219800-120220000	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr8:120219800-120220000	Bivalent Enhancer	Fetal Kidney	kidney
37	chr8:120219800-120220000	Bivalent Enhancer	Placenta	Placenta
38	chr8:120219800-120220000	Enhancers	Pancreas	Pancrea
39	chr8:120219800-120220000	Bivalent Enhancer	GM12878-XiMat	blood
40	chr8:120219800-120220200	Bivalent Enhancer	Fetal Brain Male	brain
41	chr8:120219800-120220200	Bivalent Enhancer	Fetal Heart	heart
42	chr8:120219800-120220200	Bivalent Enhancer	Small Intestine	intestine
43	chr8:120219800-120220400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr8:120219800-120220400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:120219800-120220400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:120219800-120220400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr8:120219800-120220400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr8:120219800-120221400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr8:120219800-120221400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:120219800-120221600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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