Variant report

Variant	nsv971676
Chromosome Location	chr8:86550441-86559475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:253)
CpG islands
(count:490)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:86556634-86557157	GM12878	blood:	n/a	n/a
2	BATF	chr8:86557171-86557645	GM12878	blood:	n/a	n/a
3	BATF	chr8:86557168-86557577	GM12878	blood:	n/a	n/a
4	BATF	chr8:86556713-86557155	GM12878	blood:	n/a	n/a
5	BATF	chr8:86559222-86559386	GM12878	blood:	n/a	n/a
6	BATF	chr8:86559441-86559628	GM12878	blood:	n/a	n/a
7	BATF	chr8:86559452-86559628	GM12878	blood:	n/a	n/a
8	BCL11A	chr8:86556317-86556493	GM12878	blood:	n/a	n/a
9	BCL11A	chr8:86556646-86557544	GM12878	blood:	n/a	chr8:86557185-86557194 chr8:86557162-86557171
10	BCL11A	chr8:86559434-86559714	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:86559452-86559688	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:86557628-86557805	GM12878	blood:	n/a	n/a
13	BCL11A	chr8:86557171-86557821	GM12878	blood:	n/a	chr8:86557185-86557194
14	BCL11A	chr8:86556627-86557168	GM12878	blood:	n/a	n/a
15	BHLHE40	chr8:86557188-86557731	HepG2	liver:	n/a	n/a
16	BHLHE40	chr8:86556653-86557165	HepG2	liver:	n/a	n/a
17	CTCF	chr8:86557750-86557805	HepG2	liver:	n/a	n/a
18	CTCF	chr8:86557743-86557830	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:86557746-86557784	A549	lung:	n/a	n/a
20	CTCF	chr8:86557770-86557778	Gliobla	brain:	n/a	n/a
21	CTCF	chr8:86557745-86557781	MCF-7	breast:	n/a	n/a
22	EBF1	chr8:86559448-86559628	GM12878	blood:	n/a	n/a
23	EBF1	chr8:86556714-86557778	GM12878	blood:	n/a	n/a
24	EBF1	chr8:86559229-86559380	GM12878	blood:	n/a	n/a
25	EBF1	chr8:86556642-86557146	GM12878	blood:	n/a	n/a
26	EBF1	chr8:86557173-86557769	GM12878	blood:	n/a	n/a
27	EP300	chr8:86556625-86557830	GM12878	blood:	n/a	n/a
28	EP300	chr8:86559302-86559711	GM12878	blood:	n/a	n/a
29	EP300	chr8:86556298-86556524	GM12878	blood:	n/a	n/a
30	EP300	chr8:86554773-86554970	GM12878	blood:	n/a	chr8:86554789-86554805
31	EP300	chr8:86556652-86557138	GM12878	blood:	n/a	n/a
32	EP300	chr8:86555962-86556157	GM12878	blood:	n/a	n/a
33	EP300	chr8:86557507-86557804	GM12878	blood:	n/a	n/a
34	EP300	chr8:86559464-86559685	GM12878	blood:	n/a	n/a
35	EP300	chr8:86557187-86557490	GM12878	blood:	n/a	n/a
36	FOSL2	chr8:86559293-86559737	HepG2	liver:	n/a	n/a
37	FOSL2	chr8:86556569-86557863	HepG2	liver:	n/a	n/a
38	FOSL2	chr8:86556605-86557843	HepG2	liver:	n/a	n/a
39	FOSL2	chr8:86555969-86556149	HepG2	liver:	n/a	n/a
40	FOSL2	chr8:86556302-86556516	HepG2	liver:	n/a	n/a
41	FOSL2	chr8:86556280-86556521	HepG2	liver:	n/a	n/a
42	FOSL2	chr8:86559436-86559708	HepG2	liver:	n/a	n/a
43	FOXA1	chr8:86559412-86559736	HepG2	liver:	n/a	n/a
44	FOXA1	chr8:86556610-86557872	HepG2	liver:	n/a	n/a
45	FOXA2	chr8:86554855-86556002	A549	lung:	n/a	n/a
46	FOXA2	chr8:86557549-86558073	A549	lung:	n/a	n/a
47	FOXP2	chr8:86557550-86557885	SK-N-MC	brain:	n/a	n/a
48	FOXP2	chr8:86554960-86555573	SK-N-MC	brain:	n/a	n/a
49	FOXP2	chr8:86555208-86555469	PFSK-1	brain:	n/a	n/a
50	GABPA	chr8:86556337-86556481	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:86551492-86551542	HMEC	breast:	n/a
2	chr8:86554026-86554076	HCT-116	colon:	n/a
3	chr8:86551492-86551542	HMEC	breast:	n/a
4	chr8:86554026-86554076	HCT-116	colon:	n/a
5	chr8:86554026-86554076	HCPEpiC	choroid plexus:	n/a
6	chr8:86554888-86554938	HRCEpiC	kidney:	n/a
7	chr8:86556171-86556221	Jurkat	blood:	n/a
8	chr8:86556171-86556221	AG04449	skin:	fetal
9	chr8:86554888-86554938	HPAEpiC	pulmonary alveolar:	n/a
10	chr8:86556176-86556226	ECC-1	luminal epithelium:	n/a
11	chr8:86554888-86554938	HCT-116	colon:	n/a
12	chr8:86556171-86556221	NHBE	bronchial:	n/a
13	chr8:86551492-86551542	NHDF-neo	bronchial:	n/a
14	chr8:86554026-86554076	HRE	kidney:	n/a
15	chr8:86556176-86556226	CMK	blood:	n/a
16	chr8:86556903-86556953	AG10803	skin:	n/a
17	chr8:86554888-86554938	Hepatocyte	liver:	n/a
18	chr8:86554026-86554076	HEEpiC	esophagus:	n/a
19	chr8:86554026-86554076	BJ	skin:	n/a
20	chr8:86551492-86551542	AG10803	skin:	n/a
21	chr8:86556164-86556214	AG04449	skin:	fetal
22	chr8:86554026-86554076	GM12878	blood:	n/a
23	chr8:86556171-86556221	HCF	heart:	n/a
24	chr8:86554026-86554076	MCF10A-Er-Src	breast:	n/a
25	chr8:86556164-86556214	PFSK-1	brain:	n/a
26	chr8:86556903-86556953	Caco-2	colon:	n/a
27	chr8:86556176-86556226	HRCEpiC	kidney:	n/a
28	chr8:86556749-86556799	HepG2	liver:	n/a
29	chr8:86556171-86556221	LNCaP	prostate:	n/a
30	chr8:86556749-86556799	HIPEpiC	eye:	n/a
31	chr8:86556164-86556214	HEK293	kidney:	embryo
32	chr8:86556171-86556221	BJ	skin:	n/a
33	chr8:86551492-86551542	PANC-1	pancreas:	n/a
34	chr8:86554026-86554076	GM12892	blood:	n/a
35	chr8:86556903-86556953	GM12892	blood:	n/a
36	chr8:86554026-86554076	HRPEpiC	eye:	n/a
37	chr8:86556749-86556799	NH-A	brain:	n/a
38	chr8:86556176-86556226	PANC-1	pancreas:	n/a
39	chr8:86556176-86556226	NHDF-neo	bronchial:	n/a
40	chr8:86556749-86556799	HUVEC	blood vessel:	n/a
41	chr8:86556171-86556221	HNPCEpiC	eye:	n/a
42	chr8:86556164-86556214	NH-A	brain:	n/a
43	chr8:86556903-86556953	SK-N-MC	brain:	n/a
44	chr8:86556176-86556226	HL-60	blood:	n/a
45	chr8:86556171-86556221	HPAEpiC	pulmonary alveolar:	n/a
46	chr8:86556903-86556953	RPTEC	kidney:	n/a
47	chr8:86556749-86556799	ovcar-3	ovarian:	n/a
48	chr8:86556171-86556221	AG04450	lung:	fetal
49	chr8:86554026-86554076	IMR90	lung:	fetal
50	chr8:86556749-86556799	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
REXO1L8P	TF binding region
REXO1L8P	CpG island

Extended variants
information (count: 244 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372841465	chr8:86550441-86550442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537418469	chr8:86550455-86550456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7826539	chr8:86550476-86550477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376453785	chr8:86550481-86550482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149982499	chr8:86550485-86550486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576132833	chr8:86550486-86550487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569571988	chr8:86550519-86550520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182962574	chr8:86550545-86550546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187589785	chr8:86550548-86550549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553296915	chr8:86550565-86550566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193294701	chr8:86550574-86550575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545614247	chr8:86550589-86550590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558745600	chr8:86550614-86550615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185410051	chr8:86550673-86550674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544233623	chr8:86550681-86550682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561275166	chr8:86550719-86550720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187530197	chr8:86550737-86550738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115903635	chr8:86550782-86550783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192055108	chr8:86550806-86550807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532313029	chr8:86550809-86550810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552371068	chr8:86550817-86550818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147884040	chr8:86550866-86550867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531447030	chr8:86550873-86550874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545579075	chr8:86550881-86550882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567714273	chr8:86550920-86550921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533569586	chr8:86550952-86550953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377654412	chr8:86550953-86550954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56011231	chr8:86550966-86550967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184246150	chr8:86551014-86551015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572113413	chr8:86551037-86551038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538828097	chr8:86551075-86551076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376195395	chr8:86551079-86551080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115264198	chr8:86551103-86551104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538325916	chr8:86551122-86551123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188799681	chr8:86551123-86551124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141421950	chr8:86551140-86551141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540647041	chr8:86551164-86551165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542289649	chr8:86551173-86551174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181191974	chr8:86551183-86551184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184660379	chr8:86551192-86551193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377698439	chr8:86551201-86551202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531454496	chr8:86551237-86551238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547856984	chr8:86551253-86551254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189130767	chr8:86551268-86551269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527256836	chr8:86551287-86551288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547008985	chr8:86551309-86551310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566776615	chr8:86551329-86551330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560569861	chr8:86551341-86551342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531193846	chr8:86551367-86551368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539328551	chr8:86551372-86551373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86548800-86552800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:86549800-86550600	Enhancers	Stomach Mucosa	stomach
3	chr8:86552800-86553000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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