Variant report

Variant	nsv437633
Chromosome Location	chr8:130014200-130022257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130006740..130008794-chr8:130012462..130015345,2	K562	blood:

Extended variants
information (count: 331 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7836429	chr8:130014200-130014201	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148922236	chr8:130014292-130014293	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538354095	chr8:130014314-130014315	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549993481	chr8:130014318-130014319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187692092	chr8:130014321-130014322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535850745	chr8:130014366-130014367	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192666879	chr8:130014387-130014388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373114345	chr8:130014403-130014404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143659702	chr8:130014406-130014407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78603017	chr8:130014419-130014420	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558404783	chr8:130014425-130014426	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80198721	chr8:130014446-130014447	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9642885	chr8:130014449-130014450	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544326597	chr8:130014460-130014461	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562422149	chr8:130014484-130014485	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148047590	chr8:130014519-130014520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1157275	chr8:130014520-130014521	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116457383	chr8:130014636-130014637	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527604688	chr8:130014660-130014661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182562765	chr8:130014713-130014714	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535231277	chr8:130014738-130014739	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143724887	chr8:130014848-130014849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75120105	chr8:130014976-130014977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550298538	chr8:130015017-130015018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554820875	chr8:130015032-130015033	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187980400	chr8:130015074-130015075	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146238635	chr8:130015076-130015077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370585693	chr8:130015079-130015080	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71522528	chr8:130015094-130015095	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200901034	chr8:130015102-130015103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79566681	chr8:130015104-130015105	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3075900	chr8:130015106-130015107	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145766184	chr8:130015107-130015108	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143776879	chr8:130015108-130015109	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547813693	chr8:130015127-130015128	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138812589	chr8:130015161-130015162	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540150565	chr8:130015189-130015190	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142819985	chr8:130015202-130015203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570109565	chr8:130015208-130015209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373949088	chr8:130015233-130015234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570258436	chr8:130015240-130015241	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34468159	chr8:130015247-130015248	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199839213	chr8:130015255-130015256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372751691	chr8:130015258-130015259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573804516	chr8:130015290-130015291	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112377166	chr8:130015304-130015305	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192668001	chr8:130015314-130015315	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541496570	chr8:130015385-130015386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111852161	chr8:130015444-130015445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184755364	chr8:130015464-130015465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

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

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130002200-130015600	Weak transcription	Fetal Thymus	thymus
2	chr8:130011400-130016000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:130011800-130017200	Weak transcription	Osteobl	bone
4	chr8:130012000-130017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:130012000-130017200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:130012200-130017200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:130013200-130015400	Strong transcription	Dnd41	blood
8	chr8:130013400-130016400	Enhancers	Fetal Muscle Leg	muscle
9	chr8:130013600-130014600	Enhancers	Fetal Lung	lung
10	chr8:130013600-130014600	Enhancers	Fetal Stomach	stomach
11	chr8:130013600-130015000	Enhancers	HSMMtube	muscle
12	chr8:130013600-130015400	Enhancers	HSMM	muscle
13	chr8:130013800-130014600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:130014000-130014600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:130014400-130014600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:130014600-130016000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:130014600-130017000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:130014600-130017200	Weak transcription	Fetal Stomach	stomach
19	chr8:130015000-130017000	Weak transcription	HSMMtube	muscle
20	chr8:130015400-130017000	Weak transcription	HSMM	muscle
21	chr8:130015400-130017200	Weak transcription	Dnd41	blood
22	chr8:130016000-130017200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:130016000-130017200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:130016400-130017400	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:130016600-130018400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:130017000-130018000	Enhancers	HSMM	muscle
27	chr8:130017000-130018200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:130017000-130018200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:130017000-130018200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:130017000-130018400	Enhancers	HSMMtube	muscle
31	chr8:130017000-130019600	Enhancers	HMEC	breast
32	chr8:130017200-130017600	Enhancers	Fetal Brain Female	brain
33	chr8:130017200-130017600	Enhancers	Fetal Stomach	stomach
34	chr8:130017200-130017800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:130017200-130017800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:130017200-130017800	Enhancers	Brain Hippocampus Middle	brain
37	chr8:130017200-130018000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:130017200-130018000	Enhancers	NH-A	brain
39	chr8:130017200-130018000	Enhancers	Osteobl	bone
40	chr8:130017200-130018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:130017200-130018200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:130017200-130018400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:130017200-130018400	Enhancers	NHDF-Ad	bronchial
44	chr8:130017200-130019400	Genic enhancers	Dnd41	blood
45	chr8:130017200-130019800	Enhancers	NHEK	skin
46	chr8:130017400-130017800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr8:130017400-130017800	Enhancers	Brain Anterior Caudate	brain
48	chr8:130017400-130017800	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:130017400-130017800	Enhancers	Brain Substantia Nigra	brain
50	chr8:130017400-130017800	Enhancers	Fetal Brain Male	brain

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