Variant report

Variant	nsv611669
Chromosome Location	chr8:86770710-86841229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3127)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3127 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:86781659-86782018	K562	blood:	n/a	n/a
2	BATF	chr8:86781001-86781950	GM12878	blood:	n/a	n/a
3	BATF	chr8:86813077-86813961	GM12878	blood:	n/a	n/a
4	BATF	chr8:86808467-86812389	GM12878	blood:	n/a	n/a
5	BATF	chr8:86828647-86829959	GM12878	blood:	n/a	n/a
6	BATF	chr8:86776768-86778134	GM12878	blood:	n/a	n/a
7	BATF	chr8:86785024-86785966	GM12878	blood:	n/a	n/a
8	BATF	chr8:86812492-86813384	GM12878	blood:	n/a	n/a
9	BATF	chr8:86784317-86784839	GM12878	blood:	n/a	n/a
10	BATF	chr8:86769878-86771702	GM12878	blood:	n/a	n/a
11	BATF	chr8:86797322-86799171	GM12878	blood:	n/a	n/a
12	BATF	chr8:86840509-86840673	GM12878	blood:	n/a	n/a
13	BATF	chr8:86816128-86816292	GM12878	blood:	n/a	n/a
14	BATF	chr8:86796277-86800156	GM12878	blood:	n/a	n/a
15	BATF	chr8:86800884-86801240	GM12878	blood:	n/a	n/a
16	BATF	chr8:86779866-86780042	GM12878	blood:	n/a	n/a
17	BATF	chr8:86821734-86824509	GM12878	blood:	n/a	n/a
18	BATF	chr8:86803935-86804099	GM12878	blood:	n/a	n/a
19	BATF	chr8:86812523-86813063	GM12878	blood:	n/a	n/a
20	BATF	chr8:86794914-86795078	GM12878	blood:	n/a	n/a
21	BATF	chr8:86809515-86812315	GM12878	blood:	n/a	n/a
22	BATF	chr8:86825271-86826155	GM12878	blood:	n/a	n/a
23	BATF	chr8:86831488-86831652	GM12878	blood:	n/a	n/a
24	BATF	chr8:86773415-86773771	GM12878	blood:	n/a	n/a
25	BATF	chr8:86786036-86786450	GM12878	blood:	n/a	n/a
26	BATF	chr8:86807334-86807510	GM12878	blood:	n/a	n/a
27	BATF	chr8:86819527-86819703	GM12878	blood:	n/a	n/a
28	BATF	chr8:86801465-86801759	GM12878	blood:	n/a	n/a
29	BATF	chr8:86837458-86837814	GM12878	blood:	n/a	n/a
30	BATF	chr8:86801465-86801844	GM12878	blood:	n/a	n/a
31	BATF	chr8:86820660-86824583	GM12878	blood:	n/a	n/a
32	BATF	chr8:86832851-86836770	GM12878	blood:	n/a	n/a
33	BATF	chr8:86807104-86807268	GM12878	blood:	n/a	n/a
34	BATF	chr8:86799592-86800114	GM12878	blood:	n/a	n/a
35	BATF	chr8:86771707-86772116	GM12878	blood:	n/a	n/a
36	BATF	chr8:86788660-86788824	GM12878	blood:	n/a	n/a
37	BATF	chr8:86782047-86784310	GM12878	blood:	n/a	n/a
38	BATF	chr8:86788961-86790252	GM12878	blood:	n/a	n/a
39	BATF	chr8:86819297-86819461	GM12878	blood:	n/a	n/a
40	BATF	chr8:86800299-86801191	GM12878	blood:	n/a	n/a
41	BATF	chr8:86838039-86838333	GM12878	blood:	n/a	n/a
42	BATF	chr8:86838039-86838418	GM12878	blood:	n/a	n/a
43	BATF	chr8:86788988-86790336	GM12878	blood:	n/a	n/a
44	BATF	chr8:86836904-86837444	GM12878	blood:	n/a	n/a
45	BATF	chr8:86820662-86821674	GM12878	blood:	n/a	n/a
46	BATF	chr8:86832853-86833861	GM12878	blood:	n/a	n/a
47	BATF	chr8:86785055-86785595	GM12878	blood:	n/a	n/a
48	BATF	chr8:86780999-86784881	GM12878	blood:	n/a	n/a
49	BATF	chr8:86836873-86837765	GM12878	blood:	n/a	n/a
50	BATF	chr8:86779636-86779800	GM12878	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:86840929-86840979	AG10803	skin:	n/a
2	chr8:86840929-86840979	AG10803	skin:	n/a
3	chr8:86840954-86841004	AG04449	skin:	fetal
4	chr8:86841010-86841060	HRCEpiC	kidney:	n/a
5	chr8:86840961-86841011	SK-N-SH	brain:	n/a
6	chr8:86840929-86840979	IMR90	lung:	fetal
7	chr8:86840961-86841011	PFSK-1	brain:	n/a
8	chr8:86840954-86841004	U87	brain:	n/a
9	chr8:86840954-86841004	BE2_C	brain:	n/a
10	chr8:86841010-86841060	Caco-2	colon:	n/a
11	chr8:86786605-86786655	NH-A	brain:	n/a
12	chr8:86841010-86841060	AoSMC	blood vessel:	n/a
13	chr8:86840961-86841011	AoSMC	blood vessel:	n/a
14	chr8:86840954-86841004	ECC-1	luminal epithelium:	n/a
15	chr8:86840929-86840979	NT2-D1	testis:	n/a
16	chr8:86840961-86841011	SK-N-SH_RA	brain:	n/a
17	chr8:86840954-86841004	BJ	skin:	n/a
18	chr8:86840929-86840979	GM12892	blood:	n/a
19	chr8:86840954-86841004	NH-A	brain:	n/a
20	chr8:86841010-86841060	MCF-7	breast:	n/a
21	chr8:86840929-86840979	HCM	heart:	n/a
22	chr8:86786605-86786655	HUVEC	blood vessel:	n/a
23	chr8:86841010-86841060	IMR90	lung:	fetal
24	chr8:86840961-86841011	NHBE	bronchial:	n/a
25	chr8:86841010-86841060	SK-N-SH	brain:	n/a
26	chr8:86786605-86786655	CMK	blood:	n/a
27	chr8:86840929-86840979	Hepatocyte	liver:	n/a
28	chr8:86840954-86841004	CMK	blood:	n/a
29	chr8:86840961-86841011	H1-hESC	embryonic stem cell:	embryo
30	chr8:86840929-86840979	NHDF-neo	bronchial:	n/a
31	chr8:86840929-86840979	BE2_C	brain:	n/a
32	chr8:86841010-86841060	HCPEpiC	choroid plexus:	n/a
33	chr8:86841010-86841060	HAEpiC	amniotic membrane:	n/a
34	chr8:86840954-86841004	AG09309	skin:	n/a
35	chr8:86841010-86841060	CMK	blood:	n/a
36	chr8:86841010-86841060	GM12892	blood:	n/a
37	chr8:86840961-86841011	Caco-2	colon:	n/a
38	chr8:86841010-86841060	GM06990	blood:	n/a
39	chr8:86786605-86786655	IMR90	lung:	fetal
40	chr8:86840929-86840979	HIPEpiC	eye:	n/a
41	chr8:86786605-86786655	GM06990	blood:	n/a
42	chr8:86841010-86841060	ECC-1	luminal epithelium:	n/a
43	chr8:86786605-86786655	NHBE	bronchial:	n/a
44	chr8:86786605-86786655	HCM	heart:	n/a
45	chr8:86840954-86841004	T-47D	breast:	n/a
46	chr8:86840929-86840979	ProgFib	skin:	n/a
47	chr8:86841010-86841060	GM12891	blood:	n/a
48	chr8:86786605-86786655	HEK293	kidney:	embryo
49	chr8:86840961-86841011	ProgFib	skin:	n/a
50	chr8:86840961-86841011	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
REXO1L9P	TF binding region
REXO1L2P	TF binding region
REXO1L9P	CpG island
REXO1L2P	CpG island

Extended variants
information (count: 90 )
Associated
traits (count: 103 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376883332	chr8:86780352-86780353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138290603	chr8:86781097-86781098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142579626	chr8:86781126-86781127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs145995073	chr8:86781147-86781148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145233866	chr8:86781169-86781170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs137902042	chr8:86781190-86781191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139646264	chr8:86781198-86781199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs149323875	chr8:86781209-86781210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs144465426	chr8:86781221-86781222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs148406096	chr8:86781241-86781242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs113936738	chr8:86781344-86781345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs142645111	chr8:86781359-86781360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs144982390	chr8:86781362-86781363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs147592108	chr8:86781388-86781389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs140381127	chr8:86781474-86781475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs377286551	chr8:86781543-86781544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150594870	chr8:86781547-86781548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs145583849	chr8:86781575-86781576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs75650305	chr8:86781628-86781629	ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs151088432	chr8:86781634-86781635	ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs370990848	chr8:86781635-86781636	ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs368350240	chr8:86781775-86781776	ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs138568073	chr8:86781793-86781794	ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149300023	chr8:86781821-86781822	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370720127	chr8:86781827-86781828	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs375106245	chr8:86781833-86781834	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs576682679	chr8:86781834-86781835	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs368754668	chr8:86781839-86781840	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372774104	chr8:86781844-86781845	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141119269	chr8:86781849-86781850	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs376678174	chr8:86781851-86781852	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs367572897	chr8:86781860-86781861	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372066604	chr8:86781862-86781863	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs535811864	chr8:86781866-86781867	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs150273176	chr8:86781871-86781872	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs376765413	chr8:86781881-86781882	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369828572	chr8:86781886-86781887	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs373244426	chr8:86781909-86781910	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376398664	chr8:86781927-86781928	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145841246	chr8:86781932-86781933	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs140532856	chr8:86781977-86781978	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112169981	chr8:86781990-86781991	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs62511123	chr8:86840888-86840889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs537535315	chr8:86840900-86840901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs5024433	chr8:86840905-86840906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs573949989	chr8:86840912-86840913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542658855	chr8:86840914-86840915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553260974	chr8:86840916-86840917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573163171	chr8:86840929-86840930	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs545366452	chr8:86840931-86840932	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86781600-86781800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr8:86781600-86781800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:86781600-86781800	ZNF genes & repeats	Pancreas	Pancrea
4	chr8:86781600-86782000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr8:86781600-86782000	Active TSS	Fetal Brain Male	brain
6	chr8:86841000-86841200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:86841000-86844600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:86841000-86845000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:86841200-86841400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:86841200-86842000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:86841200-86842800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:86841200-86844200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:86841200-86845000	Enhancers	Cortex derived primary cultured neurospheres	brain

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