Variant report

Variant	nsv512063
Chromosome Location	chr8:119007302-119012733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119009696..119012547-chr8:119121829..119125594,3	MCF-7	breast:
2	chr8:119010926..119015878-chr8:119016577..119020260,4	MCF-7	breast:
3	chr8:119004216..119005864-chr8:119006227..119009143,2	MCF-7	breast:
4	chr8:119005711..119007230-chr8:119009334..119011314,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:204 , 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	rs541428994	chr8:119007308-119007309	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35250329	chr8:119007343-119007344	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556637142	chr8:119007369-119007370	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575036097	chr8:119007430-119007431	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190945063	chr8:119007502-119007503	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375678344	chr8:119007514-119007515	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564336672	chr8:119007574-119007575	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542402607	chr8:119007605-119007606	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17451196	chr8:119007689-119007690	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540487833	chr8:119007697-119007698	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561974357	chr8:119007710-119007711	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530112355	chr8:119007723-119007724	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548642087	chr8:119007724-119007725	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570147016	chr8:119007753-119007754	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139251135	chr8:119007758-119007759	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17431194	chr8:119007759-119007760	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146580166	chr8:119007811-119007812	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371153237	chr8:119007836-119007837	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544304072	chr8:119007856-119007857	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528721110	chr8:119007879-119007880	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11562771	chr8:119007958-119007959	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370514433	chr8:119007960-119007961	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115048389	chr8:119008041-119008042	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77011593	chr8:119008043-119008044	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17476247	chr8:119008047-119008048	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs28357297	chr8:119008094-119008095	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111427283	chr8:119008114-119008115	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369954642	chr8:119008144-119008145	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556573099	chr8:119008284-119008285	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532983776	chr8:119008287-119008288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56822640	chr8:119008292-119008293	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372790884	chr8:119008293-119008294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575228146	chr8:119008319-119008320	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115704567	chr8:119008324-119008325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557586380	chr8:119008329-119008330	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184038295	chr8:119008416-119008417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141272100	chr8:119008428-119008429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561952300	chr8:119008429-119008430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375489208	chr8:119008538-119008539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150141416	chr8:119008597-119008598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574014625	chr8:119008607-119008608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185940519	chr8:119008649-119008650	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17476254	chr8:119008650-119008651	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76519136	chr8:119008699-119008700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552598457	chr8:119008723-119008724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564425123	chr8:119008740-119008741	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528683092	chr8:119008774-119008775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145120170	chr8:119008812-119008813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568399458	chr8:119008815-119008816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535774706	chr8:119008826-119008827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Ovarian cancer	17440070	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
3	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
4	chr8:118999600-119007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:119001600-119021200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:119002000-119010000	Weak transcription	HSMM	muscle
8	chr8:119002000-119011800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:119002200-119007400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:119002200-119007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:119002200-119010000	Weak transcription	NH-A	brain
12	chr8:119002800-119011800	Weak transcription	Colonic Mucosa	Colon
13	chr8:119003200-119007400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:119003600-119013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:119004200-119008200	Enhancers	Aorta	Aorta
16	chr8:119005000-119011800	Weak transcription	Fetal Intestine Small	intestine
17	chr8:119005000-119016400	Weak transcription	Left Ventricle	heart
18	chr8:119005000-119016400	Weak transcription	Right Atrium	heart
19	chr8:119005000-119017200	Weak transcription	Right Ventricle	heart
20	chr8:119005000-119021200	Weak transcription	Gastric	stomach
21	chr8:119005200-119007400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:119005200-119007600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:119005200-119008600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:119005200-119010000	Weak transcription	HMEC	breast
25	chr8:119005200-119010600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:119005200-119010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:119005200-119012600	Weak transcription	Lung	lung
28	chr8:119005200-119012600	Weak transcription	Ovary	ovary
29	chr8:119005200-119012600	Weak transcription	Pancreas	Pancrea
30	chr8:119005400-119007600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:119005400-119012400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:119005600-119007600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:119005600-119010000	Weak transcription	A549	lung
34	chr8:119005600-119010600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:119005800-119010800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:119005800-119010800	Weak transcription	Fetal Intestine Large	intestine
37	chr8:119005800-119011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:119005800-119012800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:119006000-119010000	Weak transcription	NHLF	lung
40	chr8:119006000-119010600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:119006200-119007400	Weak transcription	Fetal Heart	heart
42	chr8:119006200-119007800	Weak transcription	Liver	Liver
43	chr8:119006200-119009800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:119006200-119010600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:119006400-119010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:119006400-119010600	Weak transcription	Small Intestine	intestine
47	chr8:119006400-119010800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:119006400-119010800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:119006600-119007800	Enhancers	Psoas Muscle	Psoas
50	chr8:119006600-119009800	Weak transcription	NHDF-Ad	bronchial

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