Variant report

Variant	nsv398482
Chromosome Location	chr8:130981278-130982674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:
2	chr8:130982299..130983095-chr8:131026665..131027754,4	MCF-7	breast:
3	chr8:130963955..130966342-chr8:130980266..130982031,2	K562	blood:
4	chr8:130981588..130985969-chr8:131027661..131030801,4	K562	blood:
5	chr8:130974580..130976381-chr8:130980211..130982416,2	MCF-7	breast:
6	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:

Variant related genes	Relation type
ENSG00000153310	chromatin interactions
ENSG00000253720	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35612332	chr8:130981282-130981283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570709833	chr8:130981290-130981291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537767303	chr8:130981298-130981299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368519264	chr8:130981309-130981310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148495567	chr8:130981329-130981330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574297611	chr8:130981421-130981422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183590858	chr8:130981427-130981428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116052340	chr8:130981446-130981447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369529298	chr8:130981457-130981458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545759310	chr8:130981466-130981467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533132799	chr8:130981485-130981486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200484482	chr8:130981511-130981512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576640813	chr8:130981521-130981522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201471641	chr8:130981556-130981557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188879793	chr8:130981599-130981600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113756650	chr8:130981659-130981660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147632357	chr8:130981730-130981731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574935194	chr8:130981771-130981772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs36108433	chr8:130981907-130981908	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10956505	chr8:130981908-130981909	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537142443	chr8:130981987-130981988	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372931976	chr8:130982023-130982024	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548752949	chr8:130982053-130982054	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190914063	chr8:130982075-130982076	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142296924	chr8:130982121-130982122	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182351213	chr8:130982122-130982123	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs549817776	chr8:130982123-130982124	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568055380	chr8:130982128-130982129	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535044858	chr8:130982210-130982211	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553215024	chr8:130982245-130982246	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541748265	chr8:130982260-130982261	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553581190	chr8:130982265-130982266	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141753802	chr8:130982266-130982267	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76686860	chr8:130982312-130982313	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577835987	chr8:130982347-130982348	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539171538	chr8:130982351-130982352	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557705548	chr8:130982395-130982396	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546294506	chr8:130982415-130982416	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs16904182	chr8:130982439-130982440	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186635817	chr8:130982440-130982441	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528447184	chr8:130982461-130982462	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs574432443	chr8:130982491-130982492	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541616439	chr8:130982532-130982533	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557042198	chr8:130982566-130982567	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113859410	chr8:130982588-130982589	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs547379936	chr8:130982594-130982595	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs533439361	chr8:130982627-130982628	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs551587795	chr8:130982650-130982651	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:157)

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
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	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	17603634	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
Acute myeloid leukemia	20729466	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
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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130952800-130981400	Weak transcription	Left Ventricle	heart
2	chr8:130953400-130982000	Weak transcription	Hela-S3	cervix
3	chr8:130959200-130982200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:130959200-130983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:130965800-130983800	Weak transcription	HSMMtube	muscle
6	chr8:130966000-130981600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:130966000-130984400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:130966000-130984800	Weak transcription	Esophagus	oesophagus
9	chr8:130966200-130981600	Weak transcription	Placenta	Placenta
10	chr8:130970400-130984800	Weak transcription	Fetal Heart	heart
11	chr8:130971600-130981600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:130971600-130982000	Weak transcription	K562	blood
13	chr8:130971600-130984800	Weak transcription	Colonic Mucosa	Colon
14	chr8:130971600-130985400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:130972400-130981600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:130972600-130983000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:130974200-130982000	Weak transcription	NHEK	skin
18	chr8:130974200-130982400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:130974600-130983000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr8:130975200-130983400	Weak transcription	HSMM	muscle
21	chr8:130975200-130985600	Weak transcription	Liver	Liver
22	chr8:130975400-130981800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:130975400-130982000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:130975400-130982400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:130975400-130982600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:130975600-130983000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:130975600-130983800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:130975800-130981600	Weak transcription	Fetal Brain Female	brain
29	chr8:130975800-130983800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:130975800-130984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:130975800-130984800	Weak transcription	Lung	lung
32	chr8:130975800-130985000	Weak transcription	Gastric	stomach
33	chr8:130975800-130994000	Weak transcription	Pancreas	Pancrea
34	chr8:130976000-130983800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:130976000-130983800	Weak transcription	Brain Anterior Caudate	brain
36	chr8:130976000-130983800	Weak transcription	Fetal Kidney	kidney
37	chr8:130976000-130983800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:130976000-130988000	Weak transcription	Psoas Muscle	Psoas
39	chr8:130976400-130983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:130976800-130983400	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:130976800-130983800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:130977400-130981800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:130977400-130983800	Weak transcription	Spleen	Spleen
44	chr8:130977400-130984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:130977600-130981600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:130977600-130981800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:130977600-130983000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:130977600-130983800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:130977600-130983800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:130978000-130984400	Weak transcription	Rectal Smooth Muscle	rectum

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