Variant report

Variant	nsv890872
Chromosome Location	chr8:50946702-51032813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:
2	chr8:50947077..50947745-chr8:51310573..51311162,2	MCF-7	breast:
3	chr8:50988839..50990732-chr8:50993883..50996257,2	K562	blood:
4	chr8:50988839..50990732-chr8:50993883..50996257,2	K562	blood:
5	chr8:50947214..50948091-chr8:51310516..51311364,3	MCF-7	breast:

Extended variants
information (count: 3053 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3053 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17758599	chr8:50946702-50946703	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573060465	chr8:50946711-50946712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190888472	chr8:50946713-50946714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559176274	chr8:50946760-50946761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149870775	chr8:50946761-50946762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533529046	chr8:50946780-50946781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143960184	chr8:50946801-50946802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192962817	chr8:50946825-50946826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185146997	chr8:50946835-50946836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574529946	chr8:50946860-50946861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541898882	chr8:50946892-50946893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560296475	chr8:50946922-50946923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373702575	chr8:50946969-50946970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552067194	chr8:50946995-50946996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564342579	chr8:50947019-50947020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531499408	chr8:50947031-50947032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550097027	chr8:50947094-50947095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568866664	chr8:50947130-50947131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575854794	chr8:50947131-50947132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28468445	chr8:50947182-50947183	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140435196	chr8:50947265-50947266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566646109	chr8:50947297-50947298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532251043	chr8:50947400-50947401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11990760	chr8:50947422-50947423	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79901482	chr8:50947432-50947433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370380164	chr8:50947449-50947450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538151872	chr8:50947460-50947461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190391720	chr8:50947490-50947491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111439805	chr8:50947526-50947527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541860048	chr8:50947547-50947548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557155953	chr8:50947555-50947556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73571331	chr8:50947587-50947588	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139624209	chr8:50947591-50947592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80138483	chr8:50947605-50947606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373492087	chr8:50947607-50947608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564124791	chr8:50947746-50947747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201580873	chr8:50947774-50947775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142695010	chr8:50947805-50947806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151002691	chr8:50947838-50947839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199621444	chr8:50947875-50947876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386725170	chr8:50947876-50947877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531537606	chr8:50947879-50947880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200074596	chr8:50947881-50947882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543313114	chr8:50947882-50947883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561664070	chr8:50947901-50947902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573734437	chr8:50947912-50947913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542932231	chr8:50947933-50947934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547617016	chr8:50947940-50947941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565739762	chr8:50947943-50947944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536366760	chr8:50947974-50947975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50945400-50952200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:50946000-50947000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:50946200-50946800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:50946200-50947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:50946200-50947600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:50946200-50947800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:50946400-50947600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:50946400-50947600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:50946400-50947800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:50946600-50947000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:50946600-50947600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:50946800-50947200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:50947000-50947400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:50947200-50947800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:50947400-50947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:50947400-50948000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:50947600-50949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:50948000-50952400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:50948800-50949200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:50952200-50952800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:50952400-50952600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:50952400-50952800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:50952400-50952800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:50952400-50952800	Enhancers	Osteobl	bone
25	chr8:50952800-50956200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:50952800-50969800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:50958200-50959000	Enhancers	Hela-S3	cervix
28	chr8:50965400-50969600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:50965600-50965800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:50965600-50965800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:50965600-50965800	Enhancers	HSMM	muscle
32	chr8:50965600-50966000	Enhancers	NHDF-Ad	bronchial
33	chr8:50966000-50966200	Weak transcription	NHDF-Ad	bronchial
34	chr8:50966000-50967200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:50966000-50967200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:50966200-50966600	Enhancers	NHDF-Ad	bronchial
37	chr8:50966400-50966800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:50966400-50968600	Enhancers	Hela-S3	cervix
39	chr8:50966600-50966800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:50966600-50967000	Enhancers	HMEC	breast
41	chr8:50966600-50967400	Weak transcription	NHDF-Ad	bronchial
42	chr8:50966600-50968600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:50966800-50968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:50966800-50968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:50967000-50967400	Weak transcription	HMEC	breast
46	chr8:50967000-50968600	Enhancers	Osteobl	bone
47	chr8:50967200-50968600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:50967200-50969200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:50967200-50970200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:50967400-50967800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links