Variant report

Variant	nsv612213
Chromosome Location	chr8:129851646-129862009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:129858879..129861538-chr8:129862120..129864287,2	MCF-7	breast:
2	chr8:129855829..129857601-chr8:129861654..129864302,2	MCF-7	breast:
3	chr8:129855829..129857601-chr8:129861654..129864302,2	MCF-7	breast:
4	chr8:129861118..129862963-chr8:129865839..129868302,2	MCF-7	breast:
5	chr4:116843676..116845196-chr8:129860321..129863005,2	MCF-7	breast:
6	chr8:129849900..129852286-chr8:129859025..129860723,2	K562	blood:
7	chr8:129858313..129861214-chr8:130574284..130576982,2	K562	blood:
8	chr8:129860905..129863737-chr8:129866151..129867802,2	MCF-7	breast:
9	chr8:129849900..129852286-chr8:129859025..129860723,2	K562	blood:

No data

Extended variants
information (count: 396 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570199661	chr8:129851713-129851714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78140360	chr8:129851724-129851725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555992436	chr8:129851725-129851726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375950250	chr8:129851750-129851751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574448370	chr8:129851783-129851784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535523702	chr8:129851795-129851796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182423422	chr8:129851813-129851814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142428880	chr8:129851839-129851840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200426528	chr8:129851860-129851861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78738440	chr8:129851861-129851862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62528567	chr8:129851878-129851879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371462757	chr8:129851928-129851929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564359146	chr8:129851935-129851936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576169089	chr8:129851946-129851947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187898117	chr8:129851972-129851973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192533758	chr8:129851983-129851984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529373871	chr8:129852006-129852007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201528380	chr8:129852018-129852019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543517308	chr8:129852045-129852046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151271548	chr8:129852065-129852066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561898470	chr8:129852084-129852085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139324146	chr8:129852100-129852101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182838347	chr8:129852104-129852105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12547429	chr8:129852149-129852150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549583243	chr8:129852157-129852158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187477809	chr8:129852160-129852161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149976526	chr8:129852164-129852165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146551596	chr8:129852170-129852171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565683477	chr8:129852197-129852198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539401186	chr8:129852329-129852330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557783265	chr8:129852351-129852352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550213770	chr8:129852382-129852383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115449340	chr8:129852401-129852402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560383264	chr8:129852422-129852423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543329274	chr8:129852442-129852443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141072991	chr8:129852474-129852475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192286208	chr8:129852499-129852500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541171577	chr8:129852541-129852542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374118595	chr8:129852564-129852565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564276449	chr8:129852581-129852582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372704431	chr8:129852582-129852583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184817519	chr8:129852597-129852598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533163468	chr8:129852600-129852601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116794539	chr8:129852612-129852613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563513606	chr8:129852621-129852622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10094811	chr8:129852627-129852628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372579505	chr8:129852661-129852662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567937047	chr8:129852704-129852705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567908363	chr8:129852719-129852720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10956447	chr8:129852740-129852741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:154)

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
Gastric cancer	18160780	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
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129843800-129863600	Weak transcription	Dnd41	blood
2	chr8:129848000-129857200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:129849600-129853000	Enhancers	NHDF-Ad	bronchial
4	chr8:129849600-129854800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:129850200-129852200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:129850200-129852400	Weak transcription	HSMMtube	muscle
7	chr8:129850200-129852400	Weak transcription	NHLF	lung
8	chr8:129850400-129852200	Weak transcription	Osteobl	bone
9	chr8:129850800-129853400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:129851000-129853400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:129851400-129852400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:129851600-129852000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:129852000-129853600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:129852200-129853400	Enhancers	Osteobl	bone
15	chr8:129852200-129853600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:129852200-129857200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:129852400-129853400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:129852400-129853400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr8:129852400-129853400	Enhancers	HSMM	muscle
20	chr8:129852400-129853400	Enhancers	NHLF	lung
21	chr8:129852400-129853600	Enhancers	HSMMtube	muscle
22	chr8:129852400-129853800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:129853000-129853400	Flanking Active TSS	NHDF-Ad	bronchial
24	chr8:129853400-129853600	Enhancers	NHDF-Ad	bronchial
25	chr8:129853400-129856800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:129853400-129856800	Weak transcription	HSMM	muscle
27	chr8:129853400-129856800	Weak transcription	Osteobl	bone
28	chr8:129853400-129857000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:129853400-129857600	Weak transcription	NHLF	lung
30	chr8:129853600-129857000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:129853600-129857000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:129853600-129857000	Weak transcription	NHDF-Ad	bronchial
33	chr8:129853600-129857200	Weak transcription	HSMMtube	muscle
34	chr8:129853800-129854200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:129854200-129854400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:129854200-129854600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:129854200-129854800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:129854200-129854800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:129854200-129854800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:129854200-129854800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:129854200-129854800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:129854200-129854800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:129854200-129855000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr8:129854400-129854800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:129854400-129854800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:129854400-129854800	Enhancers	Brain Germinal Matrix	brain
47	chr8:129854400-129855000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:129854400-129857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:129854800-129856800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:129854800-129858400	Weak transcription	Brain Germinal Matrix	brain

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