Variant report

Variant	nsv525089
Chromosome Location	chr8:11691142-11692841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11690076..11692407-chr8:11692416..11694501,3	K562	blood:
2	chr8:11690076..11692407-chr8:11692416..11694501,3	K562	blood:
3	chr8:11689387..11691686-chr8:11696731..11698715,2	K562	blood:
4	chr8:11686947..11689897-chr8:11691622..11693319,2	K562	blood:

Variant related genes	Relation type
ENSG00000079459	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11250168	chr8:11691142-11691143	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73207299	chr8:11691145-11691146	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs566849417	chr8:11691176-11691177	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182753053	chr8:11691190-11691191	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376343394	chr8:11691200-11691201	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs76144878	chr8:11691203-11691204	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1293317	chr8:11691205-11691206	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535527535	chr8:11691236-11691237	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376882888	chr8:11691245-11691246	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577898527	chr8:11691284-11691285	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs1293318	chr8:11691310-11691311	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1293319	chr8:11691330-11691331	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10091427	chr8:11691375-11691376	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375343432	chr8:11691385-11691386	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529027980	chr8:11691391-11691392	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs61452742	chr8:11691393-11691394	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561865503	chr8:11691397-11691398	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185557788	chr8:11691398-11691399	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148507225	chr8:11691419-11691420	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544939365	chr8:11691476-11691477	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs80010983	chr8:11691576-11691577	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs117231773	chr8:11691625-11691626	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533806786	chr8:11691626-11691627	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191154144	chr8:11691631-11691632	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375590975	chr8:11691653-11691654	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566744837	chr8:11691657-11691658	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534518718	chr8:11691672-11691673	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555594322	chr8:11691674-11691675	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573918872	chr8:11691731-11691732	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538082621	chr8:11691739-11691740	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556317742	chr8:11691742-11691743	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182472769	chr8:11691753-11691754	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545569815	chr8:11691765-11691766	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564115962	chr8:11691790-11691791	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572701568	chr8:11691816-11691817	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540552198	chr8:11691819-11691820	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561926944	chr8:11691831-11691832	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529190350	chr8:11691832-11691833	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs151059712	chr8:11691838-11691839	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562541401	chr8:11691878-11691879	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533511413	chr8:11691911-11691912	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551545026	chr8:11691924-11691925	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35554186	chr8:11691931-11691932	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1293320	chr8:11691939-11691940	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs527657764	chr8:11691940-11691941	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373574337	chr8:11691947-11691948	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567647139	chr8:11691997-11691998	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77962479	chr8:11691998-11691999	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571708592	chr8:11692031-11692032	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139900350	chr8:11692054-11692055	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:139)

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
abnormal development	18461090	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
Honadal dysgenesis	21408189	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11669400-11708000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:11671400-11701400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:11675200-11707000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:11675800-11712600	Strong transcription	Dnd41	blood
6	chr8:11676200-11704800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:11677000-11705200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:11677200-11704400	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr8:11677600-11691800	Strong transcription	Osteobl	bone
10	chr8:11677600-11702000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:11677600-11702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:11677600-11703200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:11677600-11708200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:11677600-11710600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:11677600-11711800	Strong transcription	Fetal Brain Female	brain
16	chr8:11677800-11706600	Strong transcription	NHLF	lung
17	chr8:11678000-11693400	Strong transcription	A549	lung
18	chr8:11678000-11707400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:11678200-11691400	Strong transcription	Fetal Thymus	thymus
20	chr8:11678200-11697800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:11678200-11704000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:11678200-11704400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:11678200-11704600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:11678200-11705200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:11678200-11705200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:11678200-11706800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr8:11678400-11692800	Strong transcription	Liver	Liver
28	chr8:11678400-11698000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr8:11678400-11704000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:11678400-11704400	Strong transcription	GM12878-XiMat	blood
31	chr8:11678400-11705600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr8:11678400-11706400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:11678600-11691600	Strong transcription	Placenta	Placenta
34	chr8:11678600-11693800	Weak transcription	Right Atrium	heart
35	chr8:11678600-11705400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:11678600-11708600	Strong transcription	HUVEC	blood vessel
37	chr8:11678800-11697800	Strong transcription	Lung	lung
38	chr8:11679000-11691400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:11679000-11702200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:11679000-11705200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:11679000-11715200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:11679200-11691200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:11679200-11691400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:11679200-11698800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr8:11679200-11710400	Strong transcription	NHDF-Ad	bronchial
46	chr8:11679200-11710800	Strong transcription	Fetal Stomach	stomach
47	chr8:11679400-11705600	Strong transcription	Fetal Lung	lung
48	chr8:11679600-11704200	Strong transcription	K562	blood
49	chr8:11680200-11695000	Weak transcription	Fetal Brain Male	brain
50	chr8:11680400-11706600	Strong transcription	HepG2	liver

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