Variant report

Variant	nsv610157
Chromosome Location	chr8:8207339-8232143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8215387..8217821-chr8:8218761..8221155,2	K562	blood:
2	chr8:8211524..8213292-chr8:8230745..8232671,2	K562	blood:
3	chr8:8213178..8216112-chr8:8219372..8221900,2	K562	blood:
4	chr8:8224435..8226542-chr8:8234288..8235803,2	MCF-7	breast:
5	chr8:8231928..8234312-chr8:8237374..8240357,2	MCF-7	breast:
6	chr8:8230050..8233398-chr8:8236877..8239521,3	K562	blood:
7	chr8:8219726..8222734-chr8:8227381..8229987,3	K562	blood:
8	chr8:8206715..8208610-chr8:8215544..8217436,2	MCF-7	breast:
9	chr8:8215387..8217821-chr8:8218761..8221155,2	K562	blood:
10	chr8:8212157..8214587-chr8:8218598..8220116,2	K562	blood:
11	chr8:8211524..8213292-chr8:8230745..8232671,2	K562	blood:
12	chr8:8212157..8214587-chr8:8218598..8220116,2	K562	blood:
13	chr8:8230480..8232108-chr8:8232397..8235661,3	MCF-7	breast:
14	chr8:8215310..8215810-chr9:21789446..21790131,2	MCF-7	breast:
15	chr8:8213178..8216112-chr8:8219372..8221900,2	K562	blood:
16	chr8:8219726..8222734-chr8:8227381..8229987,3	K562	blood:
17	chr8:8142616..8145069-chr8:8226333..8228141,2	MCF-7	breast:
18	chr8:8230228..8231802-chr8:8235911..8238856,2	MCF-7	breast:
19	chr8:8206715..8208610-chr8:8215544..8217436,2	MCF-7	breast:
20	chr8:8146134..8147870-chr8:8228066..8231062,2	MCF-7	breast:
21	chr8:8230050..8231632-chr8:8238021..8240569,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182319	chromatin interactions

Extended variants
information (count: 1172 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:1172 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17150353	chr8:8207339-8207340	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571115417	chr8:8207355-8207356	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs79537890	chr8:8207385-8207386	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs182418833	chr8:8207387-8207388	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs113796266	chr8:8207438-8207439	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs146434189	chr8:8207446-8207447	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs67536846	chr8:8207447-8207448	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs111356032	chr8:8207448-8207449	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs557005784	chr8:8207465-8207466	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs577351681	chr8:8207467-8207468	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs558687881	chr8:8207475-8207476	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs56388037	chr8:8207477-8207478	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs574340049	chr8:8207478-8207479	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs190420976	chr8:8207490-8207491	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs543355534	chr8:8207495-8207496	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs139453472	chr8:8207501-8207502	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs549647236	chr8:8207507-8207508	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs184246818	chr8:8207518-8207519	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs528719984	chr8:8207549-8207550	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs545292643	chr8:8207558-8207559	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs565002117	chr8:8207561-8207562	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs569749307	chr8:8207596-8207597	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs533727591	chr8:8207597-8207598	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs547207612	chr8:8207611-8207612	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550511991	chr8:8207622-8207623	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567369759	chr8:8207623-8207624	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142636980	chr8:8207637-8207638	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150982603	chr8:8207649-8207650	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565716788	chr8:8207674-8207675	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567329973	chr8:8207700-8207701	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140931783	chr8:8207710-8207711	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112146544	chr8:8207712-8207713	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566078186	chr8:8207753-8207754	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538329462	chr8:8207767-8207768	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73184334	chr8:8207771-8207772	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144657593	chr8:8207781-8207782	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573721708	chr8:8207793-8207794	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542938801	chr8:8207840-8207841	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553600886	chr8:8207845-8207846	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs573471920	chr8:8207867-8207868	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545540434	chr8:8207892-8207893	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146670324	chr8:8207894-8207895	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs530909296	chr8:8207911-8207912	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs373864841	chr8:8207914-8207915	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs377054935	chr8:8207952-8207953	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560929477	chr8:8207962-8207963	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530134490	chr8:8207965-8207966	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs140219063	chr8:8208071-8208072	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150271669	chr8:8208099-8208100	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138923477	chr8:8208103-8208104	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
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
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
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:990 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8182800-8215800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:8185800-8219600	Weak transcription	Ovary	ovary
3	chr8:8186400-8215800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:8194000-8207400	Weak transcription	Stomach Mucosa	stomach
5	chr8:8197200-8209800	Weak transcription	Lung	lung
6	chr8:8197200-8211200	Weak transcription	Esophagus	oesophagus
7	chr8:8197200-8214000	Weak transcription	Gastric	stomach
8	chr8:8197200-8215800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:8197400-8210400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:8197800-8212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:8198000-8211000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:8200800-8207600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:8202400-8215400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:8203200-8209000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:8203400-8208400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:8204200-8212000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:8204400-8207800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:8204400-8212800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:8204400-8215000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:8204600-8207400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:8204800-8207600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:8204800-8207600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:8204800-8207800	Weak transcription	Right Atrium	heart
24	chr8:8204800-8209400	Weak transcription	Brain Angular Gyrus	brain
25	chr8:8204800-8210200	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:8204800-8212000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:8204800-8212000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:8204800-8212200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:8204800-8213600	Weak transcription	Fetal Kidney	kidney
30	chr8:8205000-8207400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:8205000-8207800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:8205000-8208000	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:8205000-8208200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr8:8205000-8209800	Weak transcription	Spleen	Spleen
35	chr8:8205000-8210800	Enhancers	Primary B cells from cord blood	blood
36	chr8:8205000-8215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:8205000-8215600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:8205200-8208200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr8:8205200-8208200	Enhancers	Dnd41	blood
40	chr8:8205200-8209600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:8205200-8210200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:8205200-8211800	Weak transcription	Brain Germinal Matrix	brain
43	chr8:8205200-8212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:8205200-8218800	Weak transcription	Colonic Mucosa	Colon
45	chr8:8205400-8207800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:8205400-8208200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr8:8205400-8209400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:8205400-8209400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:8205400-8210400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr8:8205400-8212000	Weak transcription	Fetal Lung	lung

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