Variant report

Variant	nsv971317
Chromosome Location	chr8:67671241-67680064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67624031..67626297-chr8:67676406..67678868,2	MCF-7	breast:
2	chr8:67679426..67682850-chr8:67685212..67688509,3	MCF-7	breast:
3	chr8:67679605..67685169-chr8:67685347..67688416,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VCPIP1-3	chr8:67679632-67680240	NR_002734

Variant related genes	Relation type
ENSG00000104205	chromatin interactions
MEIS1	miRNA target sites

Extended variants
information (count: 284 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373229258	chr8:67671251-67671252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368386931	chr8:67671312-67671313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11992646	chr8:67671315-67671316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11996421	chr8:67671316-67671317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548058203	chr8:67671317-67671318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567984713	chr8:67671318-67671319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80321376	chr8:67671331-67671332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530827420	chr8:67671353-67671354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536705702	chr8:67671384-67671385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111827331	chr8:67671387-67671388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376566981	chr8:67671406-67671407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570928131	chr8:67671447-67671448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187458136	chr8:67671479-67671480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112729772	chr8:67671507-67671508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191907067	chr8:67671563-67671564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146729570	chr8:67671571-67671572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538579112	chr8:67671572-67671573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556118895	chr8:67671633-67671634	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71515033	chr8:67671666-67671667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367752606	chr8:67671684-67671685	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140458944	chr8:67671759-67671760	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558873303	chr8:67671760-67671761	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111685650	chr8:67671811-67671812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543442970	chr8:67671825-67671826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112410700	chr8:67671856-67671857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576908836	chr8:67671873-67671874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545565360	chr8:67671881-67671882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559526679	chr8:67671884-67671885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375394434	chr8:67671885-67671886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201096689	chr8:67671920-67671921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202048680	chr8:67671921-67671922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199840954	chr8:67671931-67671932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528295440	chr8:67671951-67671952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541588565	chr8:67671983-67671984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561658192	chr8:67672024-67672025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112348597	chr8:67672028-67672029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111878665	chr8:67672066-67672067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182660651	chr8:67672121-67672122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533504852	chr8:67672144-67672145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546759134	chr8:67672167-67672168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566931001	chr8:67672174-67672175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536073974	chr8:67672198-67672199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73691582	chr8:67672208-67672209	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186796252	chr8:67672232-67672233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538527056	chr8:67672241-67672242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559911491	chr8:67672261-67672262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556948520	chr8:67672356-67672357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140745905	chr8:67672360-67672361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150087368	chr8:67672396-67672397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571240594	chr8:67672411-67672412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67652200-67672400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:67656400-67679000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:67661000-67673400	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:67664600-67686400	Weak transcription	Right Atrium	heart
5	chr8:67665000-67671600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:67665800-67673000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:67666000-67673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:67668600-67672800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:67670400-67671800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:67670800-67671400	Enhancers	Brain Cingulate Gyrus	brain
11	chr8:67671000-67671600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:67671200-67671600	Weak transcription	Brain Substantia Nigra	brain
13	chr8:67671200-67682800	Weak transcription	Brain Anterior Caudate	brain
14	chr8:67671400-67673400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:67671600-67671800	Enhancers	Brain Substantia Nigra	brain
16	chr8:67671600-67673200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:67671600-67673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:67671800-67673000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:67671800-67673000	Weak transcription	Brain Substantia Nigra	brain
20	chr8:67671800-67673600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:67672200-67673600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:67672800-67674000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr8:67673000-67673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:67673000-67674000	Enhancers	Brain Substantia Nigra	brain
25	chr8:67673000-67674200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:67673200-67673800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:67673200-67679600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:67673400-67673800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:67673400-67673800	Enhancers	Brain Hippocampus Middle	brain
30	chr8:67673400-67674400	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:67673600-67673800	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:67673600-67673800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:67673600-67680800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:67673800-67676800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:67673800-67681000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:67673800-67682800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:67674000-67675200	Weak transcription	Brain Substantia Nigra	brain
38	chr8:67674200-67677200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:67675200-67675400	Enhancers	Brain Substantia Nigra	brain
40	chr8:67675400-67675600	Weak transcription	Brain Substantia Nigra	brain
41	chr8:67676800-67677600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:67677200-67677600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:67677600-67678000	Enhancers	Hela-S3	cervix
44	chr8:67677600-67681000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:67677600-67683000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:67678000-67686200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:67679000-67679200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr8:67679200-67679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:67679600-67680200	Strong transcription	Monocytes-CD14+_RO01746	blood

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