Variant report

Variant	esv3363079
Chromosome Location	chr3:163011758-163015656
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	chr3:163011480..163014323-chr3:163020834..163023758,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241369	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148928982	chr3:163011770-163011771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116121730	chr3:163011779-163011780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145389648	chr3:163011829-163011830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529415627	chr3:163011858-163011859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558465196	chr3:163011859-163011860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572303060	chr3:163011896-163011897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181327078	chr3:163011947-163011948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534683202	chr3:163011968-163011969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554674187	chr3:163012011-163012012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375819466	chr3:163012025-163012026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547849667	chr3:163012031-163012032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543010452	chr3:163012052-163012053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7429715	chr3:163012082-163012083	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs200984078	chr3:163012087-163012088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114667715	chr3:163012155-163012156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1648986	chr3:163012225-163012226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369583755	chr3:163012226-163012227	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559671243	chr3:163012227-163012228	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528634756	chr3:163012228-163012229	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548390791	chr3:163012229-163012230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111231327	chr3:163012237-163012238	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561806994	chr3:163012254-163012255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530917428	chr3:163012258-163012259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs3031300	chr3:163012259-163012260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550699839	chr3:163012301-163012302	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375217638	chr3:163012314-163012315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570866899	chr3:163012349-163012350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538542563	chr3:163012356-163012357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552471211	chr3:163012367-163012368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35709571	chr3:163012392-163012393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183935425	chr3:163012420-163012421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189052439	chr3:163012431-163012432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181412256	chr3:163012539-163012540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369431787	chr3:163012565-163012566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574538167	chr3:163012645-163012646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147690046	chr3:163012664-163012665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556673524	chr3:163012673-163012674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576801497	chr3:163012762-163012763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142400887	chr3:163012791-163012792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187425482	chr3:163012800-163012801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573210602	chr3:163012856-163012857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541975675	chr3:163012867-163012868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561994190	chr3:163012909-163012910	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530901076	chr3:163012951-163012952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551089578	chr3:163012963-163012964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111414927	chr3:163013084-163013085	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564300189	chr3:163013088-163013089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533329424	chr3:163013140-163013141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546691580	chr3:163013185-163013186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191796920	chr3:163013196-163013197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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