Variant report

Variant	esv3358541
Chromosome Location	chr3:191370694-191371168
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	chr3:191371142..191373244-chr3:191374844..191377761,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13086688	chr3:191370698-191370699	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1818869	chr3:191370717-191370718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs183121005	chr3:191370748-191370749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551762683	chr3:191370763-191370764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs115962237	chr3:191370784-191370785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554902280	chr3:191370826-191370827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs9871463	chr3:191370830-191370831	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs118013099	chr3:191370841-191370842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115397725	chr3:191370844-191370845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs145241253	chr3:191370864-191370865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs9874968	chr3:191370867-191370868	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576128339	chr3:191370874-191370875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372404821	chr3:191370897-191370898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs538952480	chr3:191370925-191370926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs6780063	chr3:191370948-191370949	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs200284333	chr3:191370951-191370952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs578098581	chr3:191370973-191370974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs185955986	chr3:191370989-191370990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560478303	chr3:191370996-191370997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34585859	chr3:191371007-191371008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574091009	chr3:191371016-191371017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs115629644	chr3:191371048-191371049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35098194	chr3:191371070-191371071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563122347	chr3:191371077-191371078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138103174	chr3:191371098-191371099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs6768840	chr3:191371101-191371102	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375666332	chr3:191371132-191371133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375682670	chr3:191371141-191371142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565229712	chr3:191371150-191371151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs60708992	chr3:191371161-191371162	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191362200-191374800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links