Variant report

Variant	esv3430941
Chromosome Location	chr3:163297758-163302156
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	chr3:163296408..163298794-chr3:163316972..163318704,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146928142	chr3:163299805-163299806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs137952456	chr3:163299835-163299836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375264292	chr3:163299850-163299851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372397150	chr3:163299853-163299854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569344075	chr3:163299896-163299897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537998810	chr3:163299919-163299920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549450038	chr3:163299922-163299923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1841354	chr3:163299930-163299931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534770631	chr3:163299935-163299936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577651008	chr3:163300001-163300002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58398653	chr3:163300004-163300005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1841353	chr3:163300028-163300029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553015436	chr3:163300045-163300046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573050798	chr3:163300057-163300058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571533074	chr3:163300063-163300064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183624399	chr3:163300089-163300090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561964382	chr3:163300107-163300108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138031194	chr3:163300137-163300138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575488257	chr3:163300173-163300174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371336276	chr3:163300200-163300201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544355320	chr3:163300204-163300205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575295479	chr3:163300218-163300219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534636344	chr3:163300255-163300256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564133655	chr3:163300278-163300279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368860750	chr3:163300297-163300298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532976728	chr3:163300328-163300329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570765188	chr3:163300373-163300374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187977627	chr3:163300444-163300445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374659370	chr3:163300463-163300464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72619314	chr3:163300478-163300479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75615013	chr3:163300512-163300513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549411034	chr3:163300513-163300514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569463334	chr3:163300519-163300520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372922512	chr3:163300538-163300539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538033643	chr3:163300540-163300541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180849653	chr3:163300553-163300554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1599269	chr3:163300582-163300583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573525344	chr3:163300594-163300595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554178258	chr3:163300643-163300644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567548407	chr3:163300662-163300663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73161810	chr3:163300672-163300673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186520997	chr3:163300702-163300703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189767335	chr3:163300746-163300747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181864787	chr3:163300767-163300768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186846941	chr3:163300768-163300769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191130423	chr3:163300772-163300773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539945425	chr3:163300824-163300825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560142563	chr3:163300827-163300828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181775493	chr3:163300863-163300864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537974577	chr3:163300879-163300880	Enhancers	n/a	n/a	Overlapped CNVs	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	22032731	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
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163299800-163301800	Enhancers	Liver	Liver

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