Variant report

Variant	nsv1028963
Chromosome Location	chr8:6605187-6622327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:437)
CpG islands
(count:122)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:6619110-6619289	K562	blood:	n/a	n/a
2	ATF2	chr8:6607857-6608319	GM12878	blood:	n/a	n/a
3	ATF2	chr8:6607587-6608461	GM12878	blood:	n/a	n/a
4	ATF2	chr8:6605417-6606582	GM12878	blood:	n/a	n/a
5	ATF2	chr8:6605081-6606581	GM12878	blood:	n/a	n/a
6	BATF	chr8:6605426-6606472	GM12878	blood:	n/a	n/a
7	BATF	chr8:6605533-6606271	GM12878	blood:	n/a	n/a
8	BATF	chr8:6607956-6608256	GM12878	blood:	n/a	chr8:6608136-6608147
9	BATF	chr8:6607961-6608274	GM12878	blood:	n/a	chr8:6608136-6608147
10	BCL11A	chr8:6605782-6606332	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:6605888-6606301	GM12878	blood:	n/a	n/a
12	BCL3	chr8:6618346-6618903	GM12878	blood:	n/a	n/a
13	BCL3	chr8:6605907-6606407	GM12878	blood:	n/a	n/a
14	BCL3	chr8:6619064-6619423	GM12878	blood:	n/a	n/a
15	BCL3	chr8:6619729-6620464	GM12878	blood:	n/a	n/a
16	BCL3	chr8:6620510-6621746	GM12878	blood:	n/a	chr8:6621134-6621143
17	BCL3	chr8:6605499-6606474	GM12878	blood:	n/a	n/a
18	BCLAF1	chr8:6605515-6606470	GM12878	blood:	n/a	n/a
19	BCLAF1	chr8:6605410-6606831	GM12878	blood:	n/a	n/a
20	BCLAF1	chr8:6607812-6608322	GM12878	blood:	n/a	n/a
21	BHLHE40	chr8:6605068-6606588	GM12878	blood:	n/a	n/a
22	BHLHE40	chr8:6608020-6608302	GM12878	blood:	n/a	n/a
23	BRCA1	chr8:6606141-6606186	GM12878	blood:	n/a	n/a
24	BRCA1	chr8:6605210-6605321	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr8:6613443-6613473	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr8:6605860-6606168	GM12878	blood:	n/a	chr8:6606081-6606092 chr8:6605878-6605890
27	CEBPB	chr8:6605966-6606195	HepG2	liver:	n/a	chr8:6606081-6606092
28	CEBPB	chr8:6606018-6606158	H1-hESC	embryonic stem cell:	n/a	chr8:6606081-6606092
29	CEBPB	chr8:6605983-6606168	HepG2	liver:	n/a	chr8:6606081-6606092
30	CEBPB	chr8:6608077-6608169	K562	blood:	n/a	n/a
31	CEBPB	chr8:6605279-6606576	GM12878	blood:	n/a	chr8:6606081-6606092 chr8:6605878-6605890
32	CEBPB	chr8:6608729-6608842	K562	blood:	n/a	n/a
33	CEBPB	chr8:6605932-6606338	K562	blood:	n/a	chr8:6606081-6606092
34	CEBPB	chr8:6605870-6606248	K562	blood:	n/a	chr8:6606081-6606092 chr8:6605878-6605890
35	CEBPB	chr8:6607402-6607798	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr8:6605749-6606467	GM12878	blood:	n/a	n/a
37	CHD1	chr8:6605177-6605379	GM12878	blood:	n/a	n/a
38	CHD1	chr8:6614556-6614655	GM12878	blood:	n/a	n/a
39	CHD2	chr8:6605635-6606293	GM12878	blood:	n/a	n/a
40	CHD2	chr8:6607865-6607867	GM12878	blood:	n/a	n/a
41	CTCF	chr8:6607649-6607651	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr8:6605944-6605953	GM12878	blood:	n/a	n/a
43	CTCF	chr8:6620960-6621110	GM12869	blood:	n/a	n/a
44	CTCF	chr8:6607665-6607708	H1-hESC	embryonic stem cell:	n/a	n/a
45	CUX1	chr8:6604517-6605283	K562	blood:	n/a	n/a
46	CUX1	chr8:6607865-6608283	GM12878	blood:	n/a	n/a
47	CUX1	chr8:6608159-6608219	K562	blood:	n/a	n/a
48	CUX1	chr8:6605517-6606771	GM12878	blood:	n/a	n/a
49	EBF1	chr8:6608076-6608352	GM12878	blood:	n/a	n/a
50	EBF1	chr8:6607764-6607772	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6616240-6616290	NHBE	bronchial:	n/a
2	chr8:6616240-6616290	LNCaP	prostate:	n/a
3	chr8:6607096-6607146	HEK293	kidney:	embryo
4	chr8:6616240-6616290	RPTEC	kidney:	n/a
5	chr8:6607096-6607146	BJ	skin:	n/a
6	chr8:6616240-6616290	SK-N-SH	brain:	n/a
7	chr8:6607096-6607146	Caco-2	colon:	n/a
8	chr8:6607096-6607146	GM12878	blood:	n/a
9	chr8:6607096-6607146	HNPCEpiC	eye:	n/a
10	chr8:6616240-6616290	HNPCEpiC	eye:	n/a
11	chr8:6607096-6607146	ProgFib	skin:	n/a
12	chr8:6616240-6616290	HEK293	kidney:	embryo
13	chr8:6607096-6607146	HCT-116	colon:	n/a
14	chr8:6616240-6616290	GM12891	blood:	n/a
15	chr8:6616240-6616290	HepG2	liver:	n/a
16	chr8:6616240-6616290	T-47D	breast:	n/a
17	chr8:6616240-6616290	SAEC	small airway:	n/a
18	chr8:6616240-6616290	A549	lung:	n/a
19	chr8:6607096-6607146	MCF-7	breast:	n/a
20	chr8:6607096-6607146	RPTEC	kidney:	n/a
21	chr8:6616240-6616290	PANC-1	pancreas:	n/a
22	chr8:6616240-6616290	Hela-S3	cervix:	n/a
23	chr8:6616240-6616290	K562	blood:	n/a
24	chr8:6616240-6616290	AG09319	gingival:	n/a
25	chr8:6607096-6607146	NT2-D1	testis:	n/a
26	chr8:6616240-6616290	ovcar-3	ovarian:	n/a
27	chr8:6616240-6616290	Caco-2	colon:	n/a
28	chr8:6616240-6616290	NB4	blood:	n/a
29	chr8:6616240-6616290	HRPEpiC	eye:	n/a
30	chr8:6607096-6607146	ovcar-3	ovarian:	n/a
31	chr8:6607096-6607146	HRCEpiC	kidney:	n/a
32	chr8:6616240-6616290	CMK	blood:	n/a
33	chr8:6607096-6607146	HRE	kidney:	n/a
34	chr8:6607096-6607146	H1-hESC	embryonic stem cell:	embryo
35	chr8:6616240-6616290	GM12878	blood:	n/a
36	chr8:6607096-6607146	HUVEC	blood vessel:	n/a
37	chr8:6616240-6616290	BJ	skin:	n/a
38	chr8:6607096-6607146	IMR90	lung:	fetal
39	chr8:6607096-6607146	HCF	heart:	n/a
40	chr8:6616240-6616290	PFSK-1	brain:	n/a
41	chr8:6616240-6616290	GM06990	blood:	n/a
42	chr8:6616240-6616290	PrEC	prostate:	n/a
43	chr8:6607096-6607146	LNCaP	prostate:	n/a
44	chr8:6616240-6616290	NH-A	brain:	n/a
45	chr8:6616240-6616290	HPAEpiC	pulmonary alveolar:	n/a
46	chr8:6607096-6607146	Hepatocyte	liver:	n/a
47	chr8:6607096-6607146	MCF10A-Er-Src	breast:	n/a
48	chr8:6607096-6607146	ECC-1	luminal epithelium:	n/a
49	chr8:6616240-6616290	HIPEpiC	eye:	n/a
50	chr8:6607096-6607146	NHDF-neo	bronchial:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6606644..6610344-chr8:6611897..6613643,3	K562	blood:
2	chr8:6607794..6615120-chr8:6615384..6621792,7	K562	blood:
3	chr8:6606705..6609597-chr8:6613259..6614827,2	MCF-7	breast:
4	chr8:6566710..6569259-chr8:6614504..6616089,2	K562	blood:
5	chr8:6568779..6571640-chr8:6612352..6615052,2	K562	blood:
6	chr8:6615680..6618356-chr8:6619972..6621517,2	K562	blood:
7	chr8:6564149..6568457-chr8:6601682..6605924,8	K562	blood:
8	chr8:6565954..6567962-chr8:6615046..6617688,2	MCF-7	breast:
9	chr8:6607794..6609928-chr8:6615547..6617505,2	K562	blood:
10	chr8:6564149..6568070-chr8:6601682..6607895,12	K562	blood:
11	chr8:6620981..6623337-chr8:6643154..6645931,2	K562	blood:
12	chr8:6599982..6602486-chr8:6610540..6612172,2	K562	blood:
13	chr8:6611127..6614111-chr8:6622558..6624874,3	K562	blood:
14	chr8:6606705..6609597-chr8:6613259..6614827,2	MCF-7	breast:
15	chr8:6606644..6610344-chr8:6611897..6613643,3	K562	blood:
16	chr8:6566568..6569324-chr8:6619809..6622501,2	K562	blood:
17	chr8:6589795..6592287-chr8:6621682..6624107,2	K562	blood:
18	chr8:6476060..6478996-chr8:6610038..6612877,2	K562	blood:
19	chr8:6607794..6609928-chr8:6615547..6617505,2	K562	blood:
20	chr8:6615680..6618356-chr8:6619972..6621517,2	K562	blood:
21	chr8:6592860..6594827-chr8:6613486..6615924,2	K562	blood:
22	chr8:6607794..6615120-chr8:6615384..6621792,7	K562	blood:
23	chr8:6566350..6569285-chr8:6617437..6619402,3	K562	blood:
24	chr8:6545858..6548126-chr8:6615946..6617987,2	K562	blood:
25	chr8:6264061..6265745-chr8:6605716..6608202,2	K562	blood:
26	chr8:6603115..6605029-chr8:6610230..6612047,3	K562	blood:
27	chr8:6602850..6605858-chr8:6622259..6624724,3	K562	blood:
28	chr8:6617970..6622981-chr8:6623153..6625903,4	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AGPAT5	hsa-miR-192-5p	chr8:6618563-6618583
2	AGPAT5	hsa-miR-15b-5p	chr8:6617093-6617116

Variant related genes	Relation type
AGPAT5	TF binding region
AGPAT5	CpG island
ENSG00000155189	chromatin interactions
ENSG00000246089	chromatin interactions
ENSG00000147316	chromatin interactions
ENSG00000249898	chromatin interactions

Extended variants
information (count: 1004 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559942948	chr8:6605188-6605189	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs369940567	chr8:6605238-6605239	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539082371	chr8:6605240-6605241	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373437737	chr8:6605241-6605242	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201633575	chr8:6605273-6605274	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375803469	chr8:6605275-6605276	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs369012299	chr8:6605277-6605278	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187682492	chr8:6605291-6605292	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs78490448	chr8:6605301-6605302	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140609804	chr8:6605309-6605310	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs34512777	chr8:6605321-6605322	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138431163	chr8:6605338-6605339	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs140838278	chr8:6605380-6605381	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372979832	chr8:6605385-6605386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549753490	chr8:6605386-6605387	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569977158	chr8:6605388-6605389	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs192510702	chr8:6605390-6605391	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549006543	chr8:6605392-6605393	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369539674	chr8:6605393-6605394	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373740533	chr8:6605397-6605398	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534481318	chr8:6605407-6605408	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551479807	chr8:6605435-6605436	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184439938	chr8:6605451-6605452	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs6651450	chr8:6605453-6605454	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs188023471	chr8:6605458-6605459	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138725117	chr8:6605507-6605508	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535782254	chr8:6605513-6605514	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs142695144	chr8:6605534-6605535	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573399923	chr8:6605547-6605548	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192825564	chr8:6605583-6605584	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564175048	chr8:6605588-6605589	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs34723396	chr8:6605599-6605600	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376248971	chr8:6605610-6605611	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34243916	chr8:6605612-6605613	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577773967	chr8:6605637-6605638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184625544	chr8:6605650-6605651	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs146941194	chr8:6605654-6605655	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373693828	chr8:6605658-6605659	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs2912078	chr8:6605662-6605663	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188948507	chr8:6605663-6605664	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138934691	chr8:6605669-6605670	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs73508276	chr8:6605687-6605688	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377571432	chr8:6605691-6605692	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs181552662	chr8:6605705-6605706	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs149437781	chr8:6605707-6605708	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575770320	chr8:6605716-6605717	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs371040028	chr8:6605723-6605724	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs144852866	chr8:6605743-6605744	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs200437646	chr8:6605777-6605778	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs532585070	chr8:6605785-6605786	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6585800-6615800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:6587200-6617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:6587600-6608000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:6587800-6605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:6587800-6607400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:6587800-6612000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:6587800-6617000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:6588600-6607400	Weak transcription	Spleen	Spleen
9	chr8:6591000-6605200	Weak transcription	Fetal Brain Female	brain
10	chr8:6591000-6614200	Weak transcription	Left Ventricle	heart
11	chr8:6591000-6617400	Weak transcription	Psoas Muscle	Psoas
12	chr8:6591200-6607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:6591200-6607200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:6591200-6614600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:6591200-6625400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:6591400-6607200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:6591400-6607400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:6591400-6618200	Weak transcription	NHDF-Ad	bronchial
19	chr8:6591400-6625000	Weak transcription	NH-A	brain
20	chr8:6591400-6633200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:6591600-6614200	Weak transcription	NHLF	lung
22	chr8:6591600-6616600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:6591600-6618200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:6592600-6625000	Weak transcription	Osteobl	bone
25	chr8:6593000-6605200	Weak transcription	Brain Germinal Matrix	brain
26	chr8:6593000-6605800	Weak transcription	Thymus	Thymus
27	chr8:6593000-6607400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:6593000-6607400	Weak transcription	Pancreas	Pancrea
29	chr8:6593000-6622800	Weak transcription	Esophagus	oesophagus
30	chr8:6593200-6607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:6593400-6612200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:6594400-6617400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:6594400-6625200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:6594800-6607400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:6594800-6607400	Weak transcription	Aorta	Aorta
36	chr8:6595400-6629600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:6596000-6607400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:6597000-6607200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:6597800-6611600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:6597800-6616200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:6598000-6607000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:6598000-6617000	Strong transcription	Dnd41	blood
43	chr8:6599800-6607400	Weak transcription	HMEC	breast
44	chr8:6600200-6605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:6600600-6610800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:6601400-6607000	Weak transcription	HSMMtube	muscle
47	chr8:6601800-6608400	Enhancers	Stomach Mucosa	stomach
48	chr8:6602000-6611200	Strong transcription	Fetal Thymus	thymus
49	chr8:6602200-6605400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:6602200-6605600	Enhancers	Liver	Liver

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