Variant report

Variant	nsv1034362
Chromosome Location	chr8:8092025-8148289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2114)
CpG islands
(count:305)
Chromatin interactive
region (count:76)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2114 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:8145751-8146493	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:8136392-8136433	K562	blood:	n/a	n/a
3	ARID3A	chr8:8102923-8103018	K562	blood:	n/a	n/a
4	ARID3A	chr8:8111412-8112067	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:8105348-8105599	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:8130676-8131061	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:8114109-8114421	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:8146105-8146305	K562	blood:	n/a	n/a
9	ARID3A	chr8:8127158-8127358	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:8092931-8093297	HepG2	liver:	n/a	n/a
11	ARID3A	chr8:8146721-8147360	HepG2	liver:	n/a	n/a
12	ARID3A	chr8:8101412-8102391	K562	blood:	n/a	n/a
13	ARID3A	chr8:8105314-8105669	K562	blood:	n/a	n/a
14	ARID3A	chr8:8126032-8126609	HepG2	liver:	n/a	n/a
15	ARID3A	chr8:8127880-8128214	HepG2	liver:	n/a	n/a
16	ARID3A	chr8:8101041-8101072	HepG2	liver:	n/a	n/a
17	ATF1	chr8:8144090-8144415	K562	blood:	n/a	n/a
18	ATF1	chr8:8118490-8118523	K562	blood:	n/a	n/a
19	ATF1	chr8:8101961-8102473	K562	blood:	n/a	n/a
20	ATF2	chr8:8096080-8096557	GM12878	blood:	n/a	n/a
21	ATF2	chr8:8143907-8144515	GM12878	blood:	n/a	n/a
22	ATF2	chr8:8136646-8137350	GM12878	blood:	n/a	n/a
23	ATF2	chr8:8126192-8126618	GM12878	blood:	n/a	n/a
24	ATF2	chr8:8143978-8144540	GM12878	blood:	n/a	n/a
25	ATF2	chr8:8141903-8142578	GM12878	blood:	n/a	n/a
26	ATF2	chr8:8141766-8142478	GM12878	blood:	n/a	n/a
27	ATF2	chr8:8126203-8126652	GM12878	blood:	n/a	n/a
28	ATF3	chr8:8101985-8102287	K562	blood:	n/a	n/a
29	ATF3	chr8:8101821-8102415	K562	blood:	n/a	n/a
30	ATF3	chr8:8127796-8128282	A549	lung:	n/a	n/a
31	ATF3	chr8:8145720-8146548	HCT-116	colon:	n/a	n/a
32	ATF3	chr8:8145728-8146513	A549	lung:	n/a	n/a
33	ATF3	chr8:8096172-8096477	K562	blood:	n/a	n/a
34	ATF3	chr8:8145708-8146540	HCT-116	colon:	n/a	n/a
35	ATF3	chr8:8145665-8146549	A549	lung:	n/a	n/a
36	BACH1	chr8:8130683-8130937	K562	blood:	n/a	n/a
37	BATF	chr8:8143371-8143632	GM12878	blood:	n/a	n/a
38	BATF	chr8:8126185-8126638	GM12878	blood:	n/a	chr8:8126405-8126416 chr8:8126421-8126431 chr8:8126417-8126427 chr8:8126420-8126431
39	BATF	chr8:8137532-8137784	GM12878	blood:	n/a	chr8:8137667-8137678 chr8:8137668-8137678
40	BATF	chr8:8126297-8126540	GM12878	blood:	n/a	chr8:8126405-8126416 chr8:8126421-8126431 chr8:8126417-8126427 chr8:8126420-8126431
41	BATF	chr8:8096176-8096555	GM12878	blood:	n/a	n/a
42	BATF	chr8:8141982-8142461	GM12878	blood:	n/a	n/a
43	BATF	chr8:8130779-8131070	GM12878	blood:	n/a	n/a
44	BATF	chr8:8136381-8136667	GM12878	blood:	n/a	n/a
45	BATF	chr8:8143398-8143620	GM12878	blood:	n/a	n/a
46	BATF	chr8:8095764-8096661	GM12878	blood:	n/a	n/a
47	BATF	chr8:8144007-8144450	GM12878	blood:	n/a	n/a
48	BATF	chr8:8144052-8144469	GM12878	blood:	n/a	n/a
49	BCL11A	chr8:8136385-8136641	GM12878	blood:	n/a	n/a
50	BCL11A	chr8:8096092-8096547	GM12878	blood:	n/a	chr8:8096357-8096366 chr8:8096334-8096343

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8102392-8102442	A549	lung:	n/a
2	chr8:8146129-8146179	IMR90	lung:	fetal
3	chr8:8120624-8120674	SK-N-SH	brain:	n/a
4	chr8:8120624-8120674	BE2_C	brain:	n/a
5	chr8:8102392-8102442	U87	brain:	n/a
6	chr8:8102121-8102171	HepG2	liver:	n/a
7	chr8:8102121-8102171	H1-hESC	embryonic stem cell:	embryo
8	chr8:8102121-8102171	CMK	blood:	n/a
9	chr8:8131077-8131127	HCPEpiC	choroid plexus:	n/a
10	chr8:8120624-8120674	RPTEC	kidney:	n/a
11	chr8:8146129-8146179	ovcar-3	ovarian:	n/a
12	chr8:8102121-8102171	AG04450	lung:	fetal
13	chr8:8146129-8146179	MCF10A-Er-Src	breast:	n/a
14	chr8:8102392-8102442	SK-N-SH	brain:	n/a
15	chr8:8146129-8146179	H1-hESC	embryonic stem cell:	embryo
16	chr8:8102121-8102171	RPTEC	kidney:	n/a
17	chr8:8102121-8102171	ovcar-3	ovarian:	n/a
18	chr8:8131077-8131127	LNCaP	prostate:	n/a
19	chr8:8102392-8102442	AG04450	lung:	fetal
20	chr8:8146129-8146179	K562	blood:	n/a
21	chr8:8146129-8146179	PANC-1	pancreas:	n/a
22	chr8:8131077-8131127	U87	brain:	n/a
23	chr8:8102121-8102171	GM12892	blood:	n/a
24	chr8:8102121-8102171	T-47D	breast:	n/a
25	chr8:8131077-8131127	K562	blood:	n/a
26	chr8:8102392-8102442	NHBE	bronchial:	n/a
27	chr8:8102392-8102442	SK-N-SH_RA	brain:	n/a
28	chr8:8146129-8146179	A549	lung:	n/a
29	chr8:8102121-8102171	HRE	kidney:	n/a
30	chr8:8102392-8102442	SK-N-MC	brain:	n/a
31	chr8:8120624-8120674	HRCEpiC	kidney:	n/a
32	chr8:8146129-8146179	ECC-1	luminal epithelium:	n/a
33	chr8:8131077-8131127	HEK293	kidney:	embryo
34	chr8:8102121-8102171	HMEC	breast:	n/a
35	chr8:8146129-8146179	HCF	heart:	n/a
36	chr8:8131077-8131127	AG10803	skin:	n/a
37	chr8:8120624-8120674	IMR90	lung:	fetal
38	chr8:8146129-8146179	Jurkat	blood:	n/a
39	chr8:8131077-8131127	Hela-S3	cervix:	n/a
40	chr8:8146129-8146179	HepG2	liver:	n/a
41	chr8:8131077-8131127	HCF	heart:	n/a
42	chr8:8120624-8120674	GM06990	blood:	n/a
43	chr8:8102392-8102442	GM12878	blood:	n/a
44	chr8:8102121-8102171	HRPEpiC	eye:	n/a
45	chr8:8146129-8146179	GM12892	blood:	n/a
46	chr8:8102392-8102442	GM06990	blood:	n/a
47	chr8:8131077-8131127	ECC-1	luminal epithelium:	n/a
48	chr8:8102392-8102442	HUVEC	blood vessel:	n/a
49	chr8:8102121-8102171	GM12891	blood:	n/a
50	chr8:8146129-8146179	HPAEpiC	pulmonary alveolar:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:8129344..8132133-chr8:8525629..8527896,2	MCF-7	breast:
2	chr8:8101610..8104279-chr8:8111391..8114092,2	K562	blood:
3	chr8:8146134..8147870-chr8:8228066..8231062,2	MCF-7	breast:
4	chr8:8146302..8147264-chr8:8365295..8366108,2	MCF-7	breast:
5	chr8:8146274..8147281-chr8:8365228..8366135,6	MCF-7	breast:
6	chr8:8144670..8146200-chr8:8236707..8239376,2	MCF-7	breast:
7	chr8:8146402..8147201-chr8:8172122..8172875,3	MCF-7	breast:
8	chr8:8130511..8132438-chr8:8135661..8137544,2	K562	blood:
9	chr8:8093979..8097330-chr8:8100546..8105094,4	K562	blood:
10	chr8:8084641..8087551-chr8:8098301..8100358,2	K562	blood:
11	chr8:8118434..8122893-chr8:8123384..8125953,5	MCF-7	breast:
12	chr8:8147577..8148479-chr8:8171987..8172936,6	MCF-7	breast:
13	chr8:8118434..8122893-chr8:8123384..8125953,5	MCF-7	breast:
14	chr8:8128010..8130864-chr8:8317877..8319814,2	MCF-7	breast:
15	chr8:8098254..8100230-chr8:8106571..8108592,2	K562	blood:
16	chr8:8144375..8149679-chr8:8240479..8246459,10	MCF-7	breast:
17	chr8:8094096..8094629-chr8:8147947..8148540,2	MCF-7	breast:
18	chr8:8130421..8131300-chr8:8175825..8176932,3	K562	blood:
19	chr8:8147966..8148515-chr8:8336160..8336710,2	MCF-7	breast:
20	chr8:8094096..8094629-chr8:8147947..8148540,2	MCF-7	breast:
21	chr8:8130411..8130935-chr8:8374466..8375028,2	K562	blood:
22	chr8:8105059..8106011-chr8:8526943..8527953,6	MCF-7	breast:
23	chr8:8142878..8144520-chr8:8146399..8149197,2	MCF-7	breast:
24	chr8:8141970..8144276-chr8:8242374..8245136,3	MCF-7	breast:
25	chr8:8105578..8107200-chr8:8525517..8527239,2	MCF-7	breast:
26	chr8:8146386..8147240-chr8:8365579..8366086,2	MCF-7	breast:
27	chr8:8128833..8131355-chr8:8136442..8139093,2	MCF-7	breast:
28	chr8:8093979..8097330-chr8:8100546..8105094,4	K562	blood:
29	chr8:8094104..8094693-chr8:8146401..8147333,2	MCF-7	breast:
30	chr8:8145815..8148362-chr8:8152420..8155525,4	MCF-7	breast:
31	chr8:8131655..8133179-chr8:8135431..8137292,2	MCF-7	breast:
32	chr8:8146352..8147329-chr8:8172122..8173007,5	MCF-7	breast:
33	chr8:8140760..8143388-chr8:8146728..8148425,2	K562	blood:
34	chr8:8092255..8094353-chr8:8097556..8100076,2	K562	blood:
35	chr8:8134161..8136694-chr8:8559309..8560894,2	MCF-7	breast:
36	chr8:8142878..8144520-chr8:8146399..8149197,2	MCF-7	breast:
37	chr8:8108549..8111183-chr8:8240516..8242778,2	MCF-7	breast:
38	chr8:8147573..8150272-chr8:8166843..8168780,2	MCF-7	breast:
39	chr8:8101610..8104492-chr8:8112542..8114092,2	K562	blood:
40	chr8:8147577..8148485-chr8:8171987..8172936,5	MCF-7	breast:
41	chr8:8138288..8140321-chr8:8142532..8144155,2	MCF-7	breast:
42	chr8:8126193..8127836-chr8:8129384..8131743,2	MCF-7	breast:
43	chr8:8147508..8148471-chr8:8365206..8366162,5	MCF-7	breast:
44	chr8:8134812..8136654-chr8:8146118..8147961,3	K562	blood:
45	chr8:8101157..8102709-chr8:8124508..8126459,2	MCF-7	breast:
46	chr8:8104258..8105835-chr8:8243426..8245376,2	MCF-7	breast:
47	chr8:8130384..8131365-chr8:8526780..8528280,9	K562	blood:
48	chr8:8145045..8147805-chr8:8168275..8170393,2	MCF-7	breast:
49	chr8:8094651..8097727-chr8:8099626..8103713,3	MCF-7	breast:
50	chr8:8134812..8136654-chr8:8146118..8147961,3	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC068020.1-1	chr8:8101621-8101707	NONHSAT124867
2	lnc-AC068020.1-1	chr8:8101621-8102385	NONHSAT124866
3	lnc-PRAGMIN.1-7	chr8:8097015-8097098	NONHSAT124863
4	lnc-AC068020.1-1	chr8:8101621-8101684	NONHSAT124868
5	lnc-AC068020.1-1	chr8:8095815-8096448	NONHSAT124861
6	lnc-AC068020.1-1	chr8:8098797-8099202	NONHSAT124867
7	lnc-PRAGMIN.1-7	chr8:8098818-8098933	NONHSAT124863
8	lnc-AC068020.1-1	chr8:8099150-8099484	NONHSAT124868
9	lnc-PRAGMIN.1-7	chr8:8093525-8093885	NONHSAT124858
10	lnc-PRAGMIN.1-7	chr8:8095713-8095872	NONHSAT124858
11	lnc-AC068020.1-1	chr8:8097891-8099954	NONHSAT124866
12	lnc-PRAGMIN.1-7	chr8:8094648-8095823	NONHSAT124860
13	lnc-PRAGMIN.1-7	chr8:8097017-8097128	NONHSAT124860
14	lnc-PRAGMIN.1-7	chr8:8095696-8095860	NONHSAT124863
15	lnc-PRAGMIN.1-7	chr8:8097960-8098070	NONHSAT124863
16	lnc-PRAGMIN.1-7	chr8:8097728-8097835	NONHSAT124863
17	lnc-AC068020.1-1	chr8:8094730-8094797	NONHSAT124861

No data

Variant related genes	Relation type
FAM86B3P	TF binding region
ALG1L13P	TF binding region
FAM86B3P	CpG island
ALG1L13P	CpG island
ENSG00000176305	chromatin interactions
ENSG00000182319	chromatin interactions
ENSG00000253981	chromatin interactions
ENSG00000173295	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000254153	chromatin interactions
ENSG00000253958	chromatin interactions

Extended variants
information (count: 3228 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:3228 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2980436	chr8:8092025-8092026	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145090219	chr8:8092027-8092028	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113954164	chr8:8092034-8092035	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565387985	chr8:8092044-8092045	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs531703135	chr8:8092048-8092049	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550992818	chr8:8092055-8092056	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561295868	chr8:8092073-8092074	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201997247	chr8:8092093-8092094	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs1718675	chr8:8092094-8092095	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs529188722	chr8:8092107-8092108	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs555551113	chr8:8092116-8092117	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549025204	chr8:8092141-8092142	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2955584	chr8:8092174-8092175	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
14	rs528274754	chr8:8092190-8092191	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs188612404	chr8:8092192-8092193	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs191191762	chr8:8092229-8092230	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111971308	chr8:8092230-8092231	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556515807	chr8:8092234-8092235	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566957819	chr8:8092248-8092249	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs536916715	chr8:8092249-8092250	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557818068	chr8:8092256-8092257	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs573346465	chr8:8092286-8092287	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs114900224	chr8:8092318-8092319	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs559243330	chr8:8092380-8092381	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs575788994	chr8:8092392-8092393	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs565524865	chr8:8092394-8092395	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs1878561	chr8:8092405-8092406	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs561234420	chr8:8092415-8092416	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs200398638	chr8:8092433-8092434	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs530065697	chr8:8092462-8092463	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs542856893	chr8:8092463-8092464	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs182562387	chr8:8092467-8092468	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528429461	chr8:8092491-8092492	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187117957	chr8:8092494-8092495	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571138824	chr8:8092511-8092512	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530507429	chr8:8092513-8092514	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550276690	chr8:8092523-8092524	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566894315	chr8:8092532-8092533	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs535879281	chr8:8092534-8092535	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539815532	chr8:8092557-8092558	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200886108	chr8:8092571-8092572	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs552973368	chr8:8092572-8092573	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs567048790	chr8:8092581-8092582	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539345273	chr8:8092600-8092601	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs559178103	chr8:8092656-8092657	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575924310	chr8:8092660-8092661	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191621952	chr8:8092723-8092724	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183863251	chr8:8092726-8092727	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs143813727	chr8:8092735-8092736	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs187458428	chr8:8092737-8092738	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
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
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8086600-8094600	Weak transcription	Ovary	ovary
2	chr8:8086600-8096000	Weak transcription	Fetal Thymus	thymus
3	chr8:8086600-8100600	Weak transcription	Aorta	Aorta
4	chr8:8086800-8093000	Weak transcription	K562	blood
5	chr8:8086800-8093200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:8086800-8093200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:8086800-8093200	Weak transcription	Gastric	stomach
8	chr8:8086800-8093200	Weak transcription	Spleen	Spleen
9	chr8:8086800-8093400	Weak transcription	Fetal Intestine Large	intestine
10	chr8:8086800-8094600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:8086800-8096200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:8086800-8096200	Weak transcription	Thymus	Thymus
13	chr8:8086800-8096600	Weak transcription	Fetal Stomach	stomach
14	chr8:8086800-8097600	Weak transcription	Brain Anterior Caudate	brain
15	chr8:8086800-8099400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:8086800-8100000	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:8086800-8101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:8086800-8101600	Weak transcription	Pancreas	Pancrea
19	chr8:8086800-8108400	Weak transcription	NHEK	skin
20	chr8:8087000-8092800	Weak transcription	Fetal Intestine Small	intestine
21	chr8:8087000-8093000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:8087000-8093200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:8087000-8093800	Weak transcription	Liver	Liver
24	chr8:8087000-8094400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:8087000-8094600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:8087000-8095600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:8087000-8096000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:8087000-8096800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:8087000-8097600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:8087000-8100000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:8087000-8101000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:8087400-8093000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:8087400-8093000	Weak transcription	Osteobl	bone
34	chr8:8087400-8100400	Weak transcription	A549	lung
35	chr8:8088000-8093000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:8090600-8093000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:8091200-8101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:8091600-8092600	Enhancers	GM12878-XiMat	blood
39	chr8:8091600-8094000	Enhancers	Placenta	Placenta
40	chr8:8091600-8094400	Enhancers	Hela-S3	cervix
41	chr8:8091600-8094400	Enhancers	HepG2	liver
42	chr8:8091800-8092200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:8091800-8092400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:8091800-8093200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:8091800-8093400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:8091800-8094000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:8091800-8095200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:8092000-8093200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:8092000-8093600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:8092000-8093800	Strong transcription	H9 Cell Line	embryonic stem cell

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