Variant report

Variant	nsv831377
Chromosome Location	chr8:86263107-86444141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1538)
CpG islands
(count:2198)
Chromatin interactive
region (count:96)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1538 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:86295505-86295821	K562	blood:	n/a	n/a
2	ARID3A	chr8:86290333-86290829	K562	blood:	n/a	n/a
3	ARID3A	chr8:86375408-86375608	K562	blood:	n/a	n/a
4	ARID3A	chr8:86291587-86291777	K562	blood:	n/a	n/a
5	ARID3A	chr8:86277502-86277804	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:86363787-86364168	HepG2	liver:	n/a	n/a
7	ATF1	chr8:86290328-86290675	K562	blood:	n/a	n/a
8	ATF1	chr8:86322674-86323117	K562	blood:	n/a	n/a
9	ATF1	chr8:86291509-86291829	K562	blood:	n/a	n/a
10	ATF2	chr8:86375277-86375647	GM12878	blood:	n/a	n/a
11	ATF2	chr8:86379099-86379380	GM12878	blood:	n/a	n/a
12	BACH1	chr8:86375322-86375896	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr8:86350837-86350999	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr8:86403854-86404118	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr8:86375517-86375618	K562	blood:	n/a	n/a
16	BACH1	chr8:86403885-86404059	K562	blood:	n/a	n/a
17	BACH1	chr8:86380185-86380380	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr8:86376436-86376638	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr8:86373952-86374352	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr8:86414421-86414607	GM12878	blood:	n/a	chr8:86414511-86414522 chr8:86414512-86414522
21	BATF	chr8:86407688-86408006	GM12878	blood:	n/a	chr8:86407879-86407890
22	BATF	chr8:86414365-86414644	GM12878	blood:	n/a	chr8:86414511-86414522 chr8:86414512-86414522
23	BATF	chr8:86407687-86407926	GM12878	blood:	n/a	chr8:86407879-86407890
24	BCLAF1	chr8:86375357-86375764	GM12878	blood:	n/a	n/a
25	BHLHE40	chr8:86375452-86375647	K562	blood:	n/a	n/a
26	BHLHE40	chr8:86376459-86376495	GM12878	blood:	n/a	n/a
27	BHLHE40	chr8:86295520-86295720	K562	blood:	n/a	n/a
28	BHLHE40	chr8:86322833-86323051	K562	blood:	n/a	n/a
29	BHLHE40	chr8:86290345-86290622	K562	blood:	n/a	n/a
30	BHLHE40	chr8:86375361-86375709	GM12878	blood:	n/a	n/a
31	CBX3	chr8:86349389-86349850	HCT-116	colon:	n/a	n/a
32	CCNT2	chr8:86375511-86375657	K562	blood:	n/a	n/a
33	CCNT2	chr8:86290303-86290726	K562	blood:	n/a	n/a
34	CCNT2	chr8:86376240-86376362	K562	blood:	n/a	n/a
35	CCNT2	chr8:86322803-86323124	K562	blood:	n/a	n/a
36	CCNT2	chr8:86295373-86295833	K562	blood:	n/a	n/a
37	CEBPB	chr8:86415107-86415820	MCF-7	breast:	n/a	chr8:86415715-86415726
38	CEBPB	chr8:86381981-86382143	HepG2	liver:	n/a	chr8:86382106-86382123
39	CEBPB	chr8:86314925-86315267	K562	blood:	n/a	chr8:86315139-86315152 chr8:86315062-86315073 chr8:86315141-86315150 chr8:86315140-86315151 chr8:86315060-86315073
40	CEBPB	chr8:86404399-86404625	K562	blood:	n/a	n/a
41	CEBPB	chr8:86403596-86403903	MCF-7	breast:	n/a	n/a
42	CEBPB	chr8:86413439-86413512	HepG2	liver:	n/a	n/a
43	CEBPB	chr8:86314961-86315303	HepG2	liver:	n/a	chr8:86315139-86315152 chr8:86315062-86315073 chr8:86315141-86315150 chr8:86315140-86315151 chr8:86315060-86315073 chr8:86315266-86315277
44	CEBPB	chr8:86306742-86307023	A549	lung:	n/a	chr8:86306863-86306874 chr8:86306863-86306876
45	CEBPB	chr8:86325959-86326184	HepG2	liver:	n/a	chr8:86326028-86326039 chr8:86326062-86326073
46	CEBPB	chr8:86306710-86307035	IMR90	lung:	n/a	chr8:86306863-86306874 chr8:86306863-86306876
47	CEBPB	chr8:86290298-86290682	K562	blood:	n/a	n/a
48	CEBPB	chr8:86395629-86395823	HepG2	liver:	n/a	chr8:86395690-86395701
49	CEBPB	chr8:86395548-86395748	A549	lung:	n/a	chr8:86395690-86395701
50	CEBPB	chr8:86314892-86315340	MCF-7	breast:	n/a	chr8:86315139-86315152 chr8:86315062-86315073 chr8:86315141-86315150 chr8:86315140-86315151 chr8:86315060-86315073 chr8:86315266-86315277

(count:2198 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:86350581-86350631	A549	lung:	n/a
2	chr8:86375919-86375969	NB4	blood:	n/a
3	chr8:86350581-86350631	A549	lung:	n/a
4	chr8:86375919-86375969	NB4	blood:	n/a
5	chr8:86414553-86414603	HNPCEpiC	eye:	n/a
6	chr8:86375501-86375551	NT2-D1	testis:	n/a
7	chr8:86371819-86371869	U87	brain:	n/a
8	chr8:86350889-86350939	HRCEpiC	kidney:	n/a
9	chr8:86352350-86352400	SK-N-SH_RA	brain:	n/a
10	chr8:86290219-86290269	AoSMC	blood vessel:	n/a
11	chr8:86291640-86291690	GM06990	blood:	n/a
12	chr8:86376277-86376327	AG09309	skin:	n/a
13	chr8:86375450-86375500	A549	lung:	n/a
14	chr8:86371819-86371869	SAEC	small airway:	n/a
15	chr8:86375501-86375551	HRPEpiC	eye:	n/a
16	chr8:86414553-86414603	GM12891	blood:	n/a
17	chr8:86350568-86350618	NB4	blood:	n/a
18	chr8:86350919-86350969	LNCaP	prostate:	n/a
19	chr8:86350913-86350963	SAEC	small airway:	n/a
20	chr8:86376088-86376138	AG04449	skin:	fetal
21	chr8:86379678-86379728	AG09309	skin:	n/a
22	chr8:86375919-86375969	SKMC	muscle:	n/a
23	chr8:86350390-86350440	SK-N-MC	brain:	n/a
24	chr8:86349742-86349792	AG04450	lung:	fetal
25	chr8:86290689-86290739	GM12878	blood:	n/a
26	chr8:86290689-86290739	MCF10A-Er-Src	breast:	n/a
27	chr8:86290432-86290482	IMR90	lung:	fetal
28	chr8:86393055-86393105	NHBE	bronchial:	n/a
29	chr8:86376489-86376539	MCF-7	breast:	n/a
30	chr8:86375501-86375551	T-47D	breast:	n/a
31	chr8:86350390-86350440	NB4	blood:	n/a
32	chr8:86376306-86376356	T-47D	breast:	n/a
33	chr8:86349742-86349792	PrEC	prostate:	n/a
34	chr8:86352350-86352400	NHDF-neo	bronchial:	n/a
35	chr8:86290689-86290739	Caco-2	colon:	n/a
36	chr8:86290878-86290928	HRCEpiC	kidney:	n/a
37	chr8:86290878-86290928	AG09319	gingival:	n/a
38	chr8:86291640-86291690	HCF	heart:	n/a
39	chr8:86376306-86376356	HEEpiC	esophagus:	n/a
40	chr8:86350381-86350431	HEK293	kidney:	embryo
41	chr8:86379678-86379728	Hepatocyte	liver:	n/a
42	chr8:86371819-86371869	HCT-116	colon:	n/a
43	chr8:86291640-86291690	HNPCEpiC	eye:	n/a
44	chr8:86291640-86291690	HUVEC	blood vessel:	n/a
45	chr8:86376088-86376138	MCF-7	breast:	n/a
46	chr8:86375919-86375969	HCM	heart:	n/a
47	chr8:86376088-86376138	HAEpiC	amniotic membrane:	n/a
48	chr8:86351195-86351245	AG04449	skin:	fetal
49	chr8:86349742-86349792	HCF	heart:	n/a
50	chr8:86347111-86347161	T-47D	breast:	n/a

(count:96 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:86403779..86406429-chr8:86407390..86409709,2	MCF-7	breast:
2	chr8:86363550..86364394-chr8:86999009..87000158,4	MCF-7	breast:
3	chr8:86364243..86366553-chr8:86374714..86377959,3	MCF-7	breast:
4	chr8:86316256..86319104-chr8:86323335..86325398,2	K562	blood:
5	chr8:86363631..86364597-chr8:87100458..87101386,2	MCF-7	breast:
6	chr8:86372586..86374669-chr8:86379787..86381546,2	MCF-7	breast:
7	chr5:177630888..177633321-chr8:86308842..86311326,2	MCF-7	breast:
8	chr8:86405383..86408114-chr8:86416707..86418781,2	MCF-7	breast:
9	chr17:56933457..56934374-chr8:86363652..86364173,2	MCF-7	breast:
10	chr8:86414152..86417222-chr8:87353264..87356667,3	MCF-7	breast:
11	chr8:86363666..86364465-chr8:87016777..87017559,2	MCF-7	breast:
12	chr8:86363504..86364383-chr8:86986429..86987168,3	MCF-7	breast:
13	chr8:86376161..86378374-chr8:86378444..86380100,2	K562	blood:
14	chr8:86418375..86422322-chr8:86427105..86430935,3	MCF-7	breast:
15	chr8:86417772..86420887-chr8:86432218..86435662,3	MCF-7	breast:
16	chr8:86416615..86418297-chr8:86419831..86421379,2	MCF-7	breast:
17	chr8:86417772..86420887-chr8:86432218..86435662,3	MCF-7	breast:
18	chr8:86373353..86377706-chr8:86848632..86856784,15	MCF-7	breast:
19	chr8:86362726..86365485-chr8:86365567..86367420,2	K562	blood:
20	chr17:57914524..57916459-chr8:86360872..86362853,2	MCF-7	breast:
21	chr8:86428253..86433516-chr8:86435909..86440345,7	MCF-7	breast:
22	chr8:86379732..86382227-chr8:86385483..86388148,2	K562	blood:
23	chr8:86386280..86387988-chr8:86390083..86392825,2	K562	blood:
24	chr8:86363515..86364382-chr8:86999196..87000344,6	MCF-7	breast:
25	chr8:86406517..86409106-chr8:86411209..86414222,3	MCF-7	breast:
26	chr8:86260251..86261829-chr8:86265124..86266765,2	K562	blood:
27	chr8:86375429..86377548-chr8:86385406..86389030,6	MCF-7	breast:
28	chr8:86370741..86372345-chr8:87013943..87016809,2	MCF-7	breast:
29	chr22:36782277..36784307-chr8:86374266..86376495,2	MCF-7	breast:
30	chr8:86364996..86367147-chr8:86853567..86855147,2	MCF-7	breast:
31	chr8:86365982..86366575-chr8:86985503..86986224,2	MCF-7	breast:
32	chr8:86363241..86365174-chr8:86985333..86987257,15	MCF-7	breast:
33	chr8:86376103..86378213-chr8:86422646..86424905,3	MCF-7	breast:
34	chr8:86416615..86418297-chr8:86419831..86421379,2	MCF-7	breast:
35	chr8:86363443..86364082-chr8:87045149..87046001,2	K562	blood:
36	chr8:86383914..86386781-chr8:86392186..86393964,2	MCF-7	breast:
37	chr8:86405383..86408114-chr8:86416707..86418781,2	MCF-7	breast:
38	chr8:86348746..86351284-chr8:86374911..86377490,2	MCF-7	breast:
39	chr8:86433738..86438010-chr8:86438697..86442048,3	MCF-7	breast:
40	chr8:86294414..86297402-chr8:86373142..86375603,2	MCF-7	breast:
41	chr8:86406517..86409106-chr8:86411209..86414222,3	MCF-7	breast:
42	chr8:86367056..86368850-chr8:86985724..86988221,2	MCF-7	breast:
43	chr8:86375875..86379086-chr8:86380688..86384617,3	MCF-7	breast:
44	chr8:86403779..86406429-chr8:86407390..86409709,2	MCF-7	breast:
45	chr8:86364795..86367348-chr8:86976708..86978928,2	MCF-7	breast:
46	chr8:86348746..86351284-chr8:86374911..86377490,2	MCF-7	breast:
47	chr8:86372229..86378702-chr8:86846475..86858080,32	MCF-7	breast:
48	chr8:86415312..86417964-chr8:86420831..86422849,2	MCF-7	breast:
49	chr8:86404163..86406491-chr8:86406532..86408170,2	MCF-7	breast:
50	chr8:86222565..86224096-chr8:86281520..86283708,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA1-1	chr8:86356236-86356349	NONHSAT127527
2	lnc-CA1-1	chr8:86376811-86377144	ENSG00000253549.1
3	lnc-CA1-1	chr8:86374965-86375030	ENSG00000253549.1
4	lnc-CA1-1	chr8:86375161-86375283	ENSG00000253549.1
5	lnc-CA1-1	chr8:86376457-86376562	ENSG00000253549.1
6	lnc-CA1-1	chr8:86368852-86369092	ENSG00000253549.1
7	lnc-CA1-1	chr8:86375161-86375671	NONHSAT127527
8	lnc-CA1-1	chr8:86374965-86375030	ENSG00000253549.1
9	lnc-CA2-2	chr8:86436128-86436354	ENSG00000254380
10	lnc-CA2-2	chr8:86436806-86437088	ENSG00000254380
11	lnc-CA1-1	chr8:86375661-86375942	NONHSAT127529
12	lnc-CA1-1	chr8:86374965-86375030	NONHSAT127527
13	lnc-CA2-2	chr8:86436090-86436470	XLOC_006864
14	lnc-CA1-1	chr8:86354387-86354466	NONHSAT127529
15	lnc-CA2-2	chr8:86413304-86413414	XLOC_006864
16	lnc-CA1-1	chr8:86354276-86354466	ENSG00000253549.1
17	lnc-CA1-1	chr8:86374965-86375030	NONHSAT127529
18	lnc-CA1-1	chr8:86374965-86375030	ENSG00000253549.1
19	lnc-CA1-1	chr8:86354080-86354466	ENSG00000253549.1
20	lnc-CA1-1	chr8:86354135-86354466	NONHSAT127527

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CA2	hsa-miR-26a-5p	chr8:86393131-86393151
2	CA2	hsa-miR-26b-5p	chr8:86393132-86393151

Variant related genes	Relation type
CA2	TF binding region
ENSG00000254380	TF binding region
ENSG00000253549	TF binding region
CA3	TF binding region
CA1	TF binding region
CA2	CpG island
ENSG00000254380	CpG island
ENSG00000253549	CpG island
CA3	CpG island
CA1	CpG island
ENSG00000178104	chromatin interactions
ENSG00000253549	chromatin interactions
ENSG00000101104	chromatin interactions
ENSG00000104267	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000254380	chromatin interactions
ENSG00000164879	chromatin interactions
ENSG00000123124	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000254231	chromatin interactions
ENSG00000100345	chromatin interactions
ENSG00000147613	chromatin interactions
ENSG00000253154	chromatin interactions
ENSG00000147614	chromatin interactions

Extended variants
information (count: 5697 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:5697 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190814792	chr8:86263118-86263119	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs115082683	chr8:86263146-86263147	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529683236	chr8:86263167-86263168	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs182948733	chr8:86263217-86263218	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187290689	chr8:86263263-86263264	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs146136523	chr8:86263430-86263431	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs527859158	chr8:86263436-86263437	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552298930	chr8:86263487-86263488	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571910342	chr8:86263549-86263550	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549525804	chr8:86263579-86263580	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73267585	chr8:86263599-86263600	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551020454	chr8:86263620-86263621	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs371602864	chr8:86263655-86263656	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567972898	chr8:86263698-86263699	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs536513568	chr8:86263706-86263707	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs138840443	chr8:86263710-86263711	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs142049263	chr8:86263722-86263723	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs146294299	chr8:86263816-86263817	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558614458	chr8:86263901-86263902	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs575128787	chr8:86263907-86263908	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs544372150	chr8:86263910-86263911	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs567266592	chr8:86263930-86263931	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs538250749	chr8:86263955-86263956	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs34282382	chr8:86264002-86264003	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531397109	chr8:86264035-86264036	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs139243388	chr8:86264079-86264080	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376069102	chr8:86264130-86264131	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs191056040	chr8:86264156-86264157	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs532136721	chr8:86264208-86264209	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs552335877	chr8:86264242-86264243	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs182948050	chr8:86264253-86264254	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs531279652	chr8:86264278-86264279	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571260286	chr8:86264284-86264285	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs77493481	chr8:86264333-86264334	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187448200	chr8:86264364-86264365	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs193264522	chr8:86264406-86264407	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546971878	chr8:86264415-86264416	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs7817590	chr8:86264486-86264487	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7840971	chr8:86264516-86264517	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs184849475	chr8:86264530-86264531	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs144136481	chr8:86264625-86264626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558653142	chr8:86264655-86264656	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs569030972	chr8:86264739-86264740	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs7841304	chr8:86264767-86264768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187750365	chr8:86264769-86264770	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192218291	chr8:86264804-86264805	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs7818073	chr8:86264811-86264812	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs199978421	chr8:86264812-86264813	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs7841425	chr8:86264813-86264814	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs376266127	chr8:86264814-86264815	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Hepatocellular carcinoma	22267523	CNVD

Chromatin state (count:2054 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86244800-86263600	Weak transcription	Fetal Intestine Large	intestine
2	chr8:86257600-86264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:86259400-86263600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:86260000-86263200	Weak transcription	Left Ventricle	heart
5	chr8:86261600-86265400	Enhancers	Fetal Lung	lung
6	chr8:86261800-86263200	Enhancers	Psoas Muscle	Psoas
7	chr8:86261800-86263600	Enhancers	Ovary	ovary
8	chr8:86261800-86265200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:86261800-86265400	Enhancers	Adipose Nuclei	Adipose
10	chr8:86262000-86264600	Weak transcription	Esophagus	oesophagus
11	chr8:86262000-86266800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:86262200-86263400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:86262400-86263400	Enhancers	Fetal Heart	heart
14	chr8:86262400-86263600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:86262400-86265400	Enhancers	Fetal Muscle Leg	muscle
16	chr8:86262600-86263400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:86262600-86263400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:86262600-86263600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr8:86262600-86267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:86262800-86263200	Enhancers	Brain Anterior Caudate	brain
21	chr8:86262800-86263600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:86263000-86263200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr8:86263000-86263400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr8:86263000-86264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:86263000-86264200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:86263200-86263600	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr8:86263200-86264000	Enhancers	Fetal Stomach	stomach
28	chr8:86263200-86264200	Weak transcription	Psoas Muscle	Psoas
29	chr8:86263200-86265000	Enhancers	Left Ventricle	heart
30	chr8:86263400-86263800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr8:86263600-86264000	Enhancers	Fetal Intestine Small	intestine
32	chr8:86263600-86264200	Weak transcription	Right Atrium	heart
33	chr8:86263600-86264200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:86263600-86264200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:86263600-86264600	Weak transcription	Ovary	ovary
36	chr8:86263600-86264800	Enhancers	Duodenum Mucosa	Duodenum
37	chr8:86263600-86265200	Enhancers	Fetal Intestine Large	intestine
38	chr8:86263800-86264000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:86263800-86265400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:86264000-86264200	Weak transcription	Fetal Intestine Small	intestine
41	chr8:86264000-86264200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr8:86264200-86264400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr8:86264200-86264600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr8:86264200-86264600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr8:86264200-86264800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr8:86264200-86265000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:86264200-86265400	Enhancers	Fetal Intestine Small	intestine
48	chr8:86264200-86265400	Enhancers	Psoas Muscle	Psoas
49	chr8:86264200-86265400	Enhancers	Right Atrium	heart
50	chr8:86264200-86265600	Enhancers	NHEK	skin

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