Variant report

Variant	nsv1005637
Chromosome Location	chr3:162379324-162635451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52605031..52607219-chr3:162453213..162454978,2	MCF-7	breast:
2	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
3	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
4	chr3:162394370..162397355-chr3:162401132..162403109,2	MCF-7	breast:
5	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
6	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
7	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
8	chr3:162394370..162397355-chr3:162401132..162403109,2	MCF-7	breast:
9	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
10	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
11	chr3:162411048..162413287-chr3:162414403..162417401,2	MCF-7	breast:
12	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
13	chr3:162449508..162452375-chr3:162459605..162462257,2	MCF-7	breast:
14	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
15	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
16	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
17	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
18	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
19	chr16:87583669..87584291-chr3:162551047..162551567,2	MCF-7	breast:
20	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
21	chr3:162411048..162413287-chr3:162414403..162417401,2	MCF-7	breast:
22	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:
23	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
24	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
25	chr3:162449508..162452375-chr3:162459605..162462257,2	MCF-7	breast:
26	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
27	chr3:162399486..162401021-chr3:162401571..162403144,2	MCF-7	breast:
28	chr16:87583726..87584390-chr3:162551047..162551567,2	MCF-7	breast:
29	chr3:162399486..162401021-chr3:162401571..162403144,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-8	chr3:162455438-162455542	NONHSAT093025
2	lnc-OTOL1-2	chr3:162443543-162443656	NONHSAT093026
3	lnc-OTOL1-8	chr3:162441830-162442283	NONHSAT093025
4	lnc-OTOL1-2	chr3:162631870-162632022	NONHSAT093026
5	lnc-OTOL1-2	chr3:162442527-162442700	NONHSAT093026

No data

Extended variants
information (count: 6023 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:6023 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34024521	chr3:162382802-162382803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs150065712	chr3:162382822-162382823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534686257	chr3:162382828-162382829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs145425357	chr3:162382842-162382843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568600883	chr3:162382843-162382844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs115935071	chr3:162382853-162382854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557734325	chr3:162382878-162382879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373538202	chr3:162382882-162382883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577603164	chr3:162382893-162382894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546256137	chr3:162382896-162382897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149027086	chr3:162382934-162382935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7427621	chr3:162382973-162382974	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs200403529	chr3:162382991-162382992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs542267348	chr3:162382996-162382997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575928238	chr3:162383010-162383011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs560927536	chr3:162383042-162383043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs7427641	chr3:162383088-162383089	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543201499	chr3:162383095-162383096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs563277836	chr3:162383100-162383101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532251532	chr3:162383101-162383102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551907385	chr3:162383119-162383120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs143849353	chr3:162383125-162383126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs2361605	chr3:162383131-162383132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs151318678	chr3:162383137-162383138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs35109379	chr3:162383138-162383139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548222742	chr3:162383148-162383149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs73165521	chr3:162383151-162383152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112943126	chr3:162383156-162383157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551183502	chr3:162383157-162383158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571193537	chr3:162383161-162383162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566154452	chr3:162383169-162383170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73165522	chr3:162383212-162383213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35035969	chr3:162383246-162383247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140294667	chr3:162383259-162383260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1075548	chr3:162383353-162383354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555868177	chr3:162383362-162383363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372471343	chr3:162383375-162383376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187090954	chr3:162383387-162383388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561149202	chr3:162383399-162383400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563114014	chr3:162383424-162383425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576740852	chr3:162383469-162383470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546036738	chr3:162383472-162383473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528779937	chr3:162383484-162383485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534561732	chr3:162383496-162383497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547867755	chr3:162383526-162383527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7428118	chr3:162383597-162383598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530603723	chr3:162383643-162383644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551220362	chr3:162383658-162383659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145403155	chr3:162383675-162383676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148040046	chr3:162383737-162383738	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162382800-162383200	ZNF genes & repeats	Dnd41	blood
2	chr3:162383200-162384200	Enhancers	Dnd41	blood
3	chr3:162383400-162384200	Enhancers	Stomach Smooth Muscle	stomach
4	chr3:162384200-162386800	Weak transcription	Dnd41	blood
5	chr3:162386600-162390000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:162386800-162389400	Enhancers	Dnd41	blood
7	chr3:162387000-162387200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:162387200-162388000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:162387200-162388000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:162387200-162388400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:162388000-162395400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:162388400-162390800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:162389200-162389600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:162389400-162390200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:162389400-162390400	Weak transcription	Dnd41	blood
16	chr3:162389400-162390600	Enhancers	Colon Smooth Muscle	Colon
17	chr3:162389600-162390000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:162389800-162390200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:162389800-162390400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr3:162390000-162390200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:162390000-162390400	Enhancers	Rectal Smooth Muscle	rectum
22	chr3:162390000-162390600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr3:162390000-162390600	Enhancers	Stomach Smooth Muscle	stomach
24	chr3:162390000-162390800	Enhancers	Fetal Stomach	stomach
25	chr3:162390200-162390600	Enhancers	Ovary	ovary
26	chr3:162390200-162395800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:162390400-162390600	Enhancers	Dnd41	blood
28	chr3:162390800-162396800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:162391600-162392400	Enhancers	Fetal Heart	heart
30	chr3:162392400-162394400	Weak transcription	Fetal Heart	heart
31	chr3:162394400-162397200	Enhancers	Fetal Heart	heart
32	chr3:162395400-162399000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:162395600-162397400	Enhancers	Fetal Brain Male	brain
34	chr3:162395600-162399000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:162395800-162398600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:162396200-162397000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:162396200-162397400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:162396400-162397000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:162396400-162397400	Enhancers	Brain Germinal Matrix	brain
40	chr3:162396600-162397200	Enhancers	Fetal Brain Female	brain
41	chr3:162396800-162398600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:162396800-162398800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:162397000-162398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:162397200-162398800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:162397800-162398200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr3:162398000-162399000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr3:162398400-162398800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:162402000-162402600	Enhancers	Fetal Heart	heart
49	chr3:162405800-162406600	Enhancers	Rectal Smooth Muscle	rectum
50	chr3:162407400-162408800	Enhancers	Dnd41	blood

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