Variant report

Variant	nsv890373
Chromosome Location	chr8:11877707-11951168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:146)
CpG islands
(count:489)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:146 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:11895971-11896326	GM12878	blood:	n/a	n/a
2	BATF	chr8:11921283-11921507	GM12878	blood:	n/a	n/a
3	BATF	chr8:11921281-11921530	GM12878	blood:	n/a	n/a
4	CEBPB	chr8:11909083-11909117	A549	lung:	n/a	chr8:11909099-11909108 chr8:11909099-11909108 chr8:11909097-11909110 chr8:11909097-11909110 chr8:11909099-11909108
5	CEBPB	chr8:11908914-11909287	Hela-S3	cervix:	n/a	chr8:11909099-11909108 chr8:11909099-11909108 chr8:11909097-11909110 chr8:11909097-11909110 chr8:11909099-11909108
6	CTCF	chr8:11930330-11930393	GM20000	blood:	n/a	n/a
7	CTCF	chr8:11921147-11921571	K562	blood:	n/a	n/a
8	CTCF	chr8:11911839-11911928	GM13976	blood:	n/a	n/a
9	CTCF	chr8:11921275-11921453	GM10266	blood:	n/a	n/a
10	CTCF	chr8:11917960-11918110	HEK293	kidney:	n/a	n/a
11	CTCF	chr8:11921246-11921482	GM10248	blood:	n/a	n/a
12	CTCF	chr8:11921057-11921602	A549	lung:	n/a	n/a
13	CTCF	chr8:11921266-11921435	GM12878	blood:	n/a	n/a
14	CTCF	chr8:11921149-11921625	A549	lung:	n/a	n/a
15	CTCF	chr8:11918021-11918104	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr8:11908419-11908451	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr8:11921233-11921448	HepG2	liver:	n/a	n/a
18	CTCF	chr8:11918066-11918077	A549	lung:	n/a	n/a
19	CTCF	chr8:11918002-11918122	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr8:11921304-11921424	NHEK	skin:	n/a	n/a
21	CTCF	chr8:11921282-11921450	MCF-7	breast:	n/a	n/a
22	CTCF	chr8:11921242-11921484	A549	lung:	n/a	n/a
23	CTCF	chr8:11921230-11921473	K562	blood:	n/a	n/a
24	CTCF	chr8:11918005-11918132	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:11922869-11922914	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr8:11921308-11921399	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr8:11921299-11921463	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:11915530-11915578	GM13976	blood:	n/a	n/a
29	CTCF	chr8:11921270-11921271	GM10266	blood:	n/a	n/a
30	CTCF	chr8:11918078-11918100	A549	lung:	n/a	n/a
31	CTCF	chr8:11922387-11922456	GM13977	blood:	n/a	n/a
32	CTCF	chr8:11921344-11921460	GM12891	blood:	n/a	n/a
33	CTCF	chr8:11921327-11921483	Lung_OC	lung:	n/a	n/a
34	CTCF	chr8:11912601-11912655	LNCaP	prostate:	n/a	n/a
35	CTCF	chr8:11921302-11921414	GM12892	blood:	n/a	n/a
36	CTCF	chr8:11926614-11926630	GM10266	blood:	n/a	n/a
37	CTCF	chr8:11936142-11936224	LNCaP	prostate:	n/a	n/a
38	CTCF	chr8:11921066-11921722	K562	blood:	n/a	n/a
39	CTCF	chr8:11921271-11921453	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr8:11921162-11921552	A549	lung:	n/a	n/a
41	CTCF	chr8:11885952-11885993	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr8:11933196-11933217	GM10248	blood:	n/a	n/a
43	CTCF	chr8:11923424-11923449	Medullo	brain:	n/a	n/a
44	CTCF	chr8:11927408-11927499	GM20000	blood:	n/a	n/a
45	CTCF	chr8:11921291-11921412	Fibrobl	skin:	n/a	n/a
46	CTCF	chr8:11905919-11905992	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr8:11921303-11921439	GM19238	blood:	n/a	n/a
48	CTCF	chr8:11944807-11944895	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr8:11921276-11921427	GM19240	blood:	n/a	n/a
50	CTCF	chr8:11935368-11935485	Medullo	brain:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11882897-11882947	A549	lung:	n/a
2	chr8:11882897-11882947	A549	lung:	n/a
3	chr8:11882962-11883012	BE2_C	brain:	n/a
4	chr8:11882982-11883032	AG04449	skin:	fetal
5	chr8:11946498-11946548	HNPCEpiC	eye:	n/a
6	chr8:11882982-11883032	HCPEpiC	choroid plexus:	n/a
7	chr8:11882982-11883032	HEEpiC	esophagus:	n/a
8	chr8:11907551-11907601	SK-N-MC	brain:	n/a
9	chr8:11946498-11946548	GM06990	blood:	n/a
10	chr8:11882962-11883012	IMR90	lung:	fetal
11	chr8:11882897-11882947	GM12891	blood:	n/a
12	chr8:11946498-11946548	U87	brain:	n/a
13	chr8:11882897-11882947	HRPEpiC	eye:	n/a
14	chr8:11946498-11946548	HRPEpiC	eye:	n/a
15	chr8:11907551-11907601	HCPEpiC	choroid plexus:	n/a
16	chr8:11907551-11907601	GM12892	blood:	n/a
17	chr8:11946498-11946548	HEK293	kidney:	embryo
18	chr8:11882897-11882947	HIPEpiC	eye:	n/a
19	chr8:11882982-11883032	GM12892	blood:	n/a
20	chr8:11882982-11883032	U87	brain:	n/a
21	chr8:11882897-11882947	HRCEpiC	kidney:	n/a
22	chr8:11947722-11947772	A549	lung:	n/a
23	chr8:11882897-11882947	AG04450	lung:	fetal
24	chr8:11882897-11882947	HEK293	kidney:	embryo
25	chr8:11882962-11883012	HEK293	kidney:	embryo
26	chr8:11882897-11882947	HCPEpiC	choroid plexus:	n/a
27	chr8:11946498-11946548	HPAEpiC	pulmonary alveolar:	n/a
28	chr8:11895252-11895302	HIPEpiC	eye:	n/a
29	chr8:11882962-11883012	HUVEC	blood vessel:	n/a
30	chr8:11947722-11947772	HMEC	breast:	n/a
31	chr8:11946867-11946917	K562	blood:	n/a
32	chr8:11946498-11946548	PrEC	prostate:	n/a
33	chr8:11895252-11895302	BJ	skin:	n/a
34	chr8:11946498-11946548	HIPEpiC	eye:	n/a
35	chr8:11895252-11895302	HCF	heart:	n/a
36	chr8:11946867-11946917	ProgFib	skin:	n/a
37	chr8:11907551-11907601	CMK	blood:	n/a
38	chr8:11946498-11946548	Hela-S3	cervix:	n/a
39	chr8:11882982-11883032	LNCaP	prostate:	n/a
40	chr8:11882962-11883012	PANC-1	pancreas:	n/a
41	chr8:11907551-11907601	GM19239	blood:	n/a
42	chr8:11946867-11946917	HepG2	liver:	n/a
43	chr8:11946867-11946917	SAEC	small airway:	n/a
44	chr8:11946867-11946917	CMK	blood:	n/a
45	chr8:11946498-11946548	IMR90	lung:	fetal
46	chr8:11947722-11947772	NB4	blood:	n/a
47	chr8:11882982-11883032	NHBE	bronchial:	n/a
48	chr8:11882982-11883032	HIPEpiC	eye:	n/a
49	chr8:11907551-11907601	HNPCEpiC	eye:	n/a
50	chr8:11882962-11883012	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64863606..64864139-chr8:11882400..11882963,2	Hela-S3	cervix:
2	chr10:101006536..101007134-chr8:11906757..11907257,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233050	TF binding region
ENSG00000255098	TF binding region
RNA5SP253	TF binding region
ENSG00000255016	TF binding region
OR7E160P	TF binding region
ENSG00000254700	TF binding region
ENSG00000233050	CpG island
ENSG00000255098	CpG island
RNA5SP253	CpG island
ENSG00000255016	CpG island
OR7E160P	CpG island
ENSG00000254700	CpG island
ENSG00000149823	chromatin interactions

Extended variants
information (count: 382 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73542355	chr8:11882401-11882402	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182024828	chr8:11882414-11882415	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549281650	chr8:11882428-11882429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111551761	chr8:11882437-11882438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538242050	chr8:11882477-11882478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188918445	chr8:11882492-11882493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116628510	chr8:11882508-11882509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371045456	chr8:11882546-11882547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539184913	chr8:11882547-11882548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140633812	chr8:11882549-11882550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144483795	chr8:11882560-11882561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540496698	chr8:11882574-11882575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371631770	chr8:11882587-11882588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61387792	chr8:11882588-11882589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs151272394	chr8:11882589-11882590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs398007083	chr8:11882598-11882599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs60181159	chr8:11882599-11882600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555654617	chr8:11882603-11882604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573509347	chr8:11882622-11882623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544203708	chr8:11882627-11882628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201437119	chr8:11882641-11882642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546349110	chr8:11882642-11882643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs398007084	chr8:11882650-11882651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368829572	chr8:11882651-11882652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372238377	chr8:11882652-11882653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547691853	chr8:11882653-11882654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562383906	chr8:11882659-11882660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182414318	chr8:11882676-11882677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532860877	chr8:11882730-11882731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181400931	chr8:11882742-11882743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560279419	chr8:11882764-11882765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185537929	chr8:11882770-11882771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374447734	chr8:11882775-11882776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549365877	chr8:11882799-11882800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567960570	chr8:11882826-11882827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189999608	chr8:11882828-11882829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531953739	chr8:11882833-11882834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550148331	chr8:11882850-11882851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571583370	chr8:11882855-11882856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114104733	chr8:11882896-11882897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547923991	chr8:11882897-11882898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566642610	chr8:11882902-11882903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533977569	chr8:11882910-11882911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73200503	chr8:11882913-11882914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573868814	chr8:11882917-11882918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34195527	chr8:11882918-11882919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371344473	chr8:11882919-11882920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6983419	chr8:11882924-11882925	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181009819	chr8:11882936-11882937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112446641	chr8:11882937-11882938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
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
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
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
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
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11884400-11885200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:11887400-11887600	Enhancers	Pancreas	Pancrea
3	chr8:11887600-11889200	Weak transcription	Pancreas	Pancrea
4	chr8:11889200-11889600	Enhancers	Pancreas	Pancrea

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