Variant report

Variant	nsv967030
Chromosome Location	chr3:77842543-77846285
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	chr3:77832530..77834277-chr3:77845042..77847268,2	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565186754	chr3:77842548-77842549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527870203	chr3:77842557-77842558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77284753	chr3:77842558-77842559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7644224	chr3:77842643-77842644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530394316	chr3:77842812-77842813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11418526	chr3:77842837-77842838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397692940	chr3:77842838-77842839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112505090	chr3:77842840-77842841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182571114	chr3:77842887-77842888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537589183	chr3:77842909-77842910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551445862	chr3:77842923-77842924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143906523	chr3:77842931-77842932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533977387	chr3:77842964-77842965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34113514	chr3:77842974-77842975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146892886	chr3:77842986-77842987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369350252	chr3:77842997-77842998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371758851	chr3:77843099-77843100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536530589	chr3:77843101-77843102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556309417	chr3:77843127-77843128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552242307	chr3:77843129-77843130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188039755	chr3:77843145-77843146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545213025	chr3:77843170-77843171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12637291	chr3:77843196-77843197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572161095	chr3:77843217-77843218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193002337	chr3:77843297-77843298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561114691	chr3:77843313-77843314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140086197	chr3:77843345-77843346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550443752	chr3:77843357-77843358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562381689	chr3:77843382-77843383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531344655	chr3:77843387-77843388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184989166	chr3:77843391-77843392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571387203	chr3:77843401-77843402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533837479	chr3:77843474-77843475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547646092	chr3:77843503-77843504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150304093	chr3:77843508-77843509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187394688	chr3:77843511-77843512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75375443	chr3:77843516-77843517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576218169	chr3:77843575-77843576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570441053	chr3:77843586-77843587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548631664	chr3:77843587-77843588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192087336	chr3:77843592-77843593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202134379	chr3:77843606-77843607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373294702	chr3:77843612-77843613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572226205	chr3:77843616-77843617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137966189	chr3:77843619-77843620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149062783	chr3:77843644-77843645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534425095	chr3:77843717-77843718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574966201	chr3:77843721-77843722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145912912	chr3:77843743-77843744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184635963	chr3:77843771-77843772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:77839000-77843000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:77843000-77843200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:77843000-77843400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:77843000-77843600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:77843000-77843600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:77843000-77843600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr3:77843000-77844000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:77843000-77844200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:77843000-77844400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:77843000-77844600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:77843000-77844600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:77843000-77844800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:77843000-77844800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:77843200-77843600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:77843200-77843600	Enhancers	Gastric	stomach
16	chr3:77843200-77844400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:77843200-77847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:77843400-77843600	Enhancers	Brain Germinal Matrix	brain
19	chr3:77843600-77844000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:77843600-77844000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:77843600-77844000	Weak transcription	Gastric	stomach
22	chr3:77843600-77848400	Weak transcription	Brain Germinal Matrix	brain
23	chr3:77844000-77844600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:77844000-77844600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:77844000-77844600	Enhancers	Gastric	stomach
26	chr3:77844200-77844600	Enhancers	NHEK	skin
27	chr3:77844200-77845200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:77844200-77845200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:77844200-77847800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:77844400-77845000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:77844400-77845400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:77844600-77845200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:77845000-77845200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:77845200-77847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:77845200-77849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:77845200-77850600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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