Variant report

Variant	nsv877762
Chromosome Location	chr3:162400620-162521339
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:17)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
2	chr3:162449508..162452375-chr3:162459605..162462257,2	MCF-7	breast:
3	chr3:162449508..162452375-chr3:162459605..162462257,2	MCF-7	breast:
4	chr3:162411048..162413287-chr3:162414403..162417401,2	MCF-7	breast:
5	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
6	chr3:162399486..162401021-chr3:162401571..162403144,2	MCF-7	breast:
7	chr3:162394370..162397355-chr3:162401132..162403109,2	MCF-7	breast:
8	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
9	chr3:162411048..162413287-chr3:162414403..162417401,2	MCF-7	breast:
10	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
11	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
12	chr3:162399486..162401021-chr3:162401571..162403144,2	MCF-7	breast:
13	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
14	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
15	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
16	chr15:52605031..52607219-chr3:162453213..162454978,2	MCF-7	breast:
17	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:

(count:4 , 50 per page) page: 1

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

No data

Extended variants
information (count: 4694 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:4694 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147184068	chr3:162402028-162402029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139561144	chr3:162402068-162402069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190095131	chr3:162402121-162402122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530722223	chr3:162402130-162402131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76708336	chr3:162402143-162402144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2088314	chr3:162402146-162402147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149726767	chr3:162402176-162402177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552905879	chr3:162402199-162402200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181850032	chr3:162402259-162402260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532588720	chr3:162402290-162402291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186397291	chr3:162402297-162402298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575478322	chr3:162402315-162402316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1874510	chr3:162402336-162402337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs558048117	chr3:162402369-162402370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577891780	chr3:162402383-162402384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540238796	chr3:162402399-162402400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560456648	chr3:162402410-162402411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573942537	chr3:162402434-162402435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371345261	chr3:162402489-162402490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543155132	chr3:162402502-162402503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189623481	chr3:162402578-162402579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572991010	chr3:162402593-162402594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548536899	chr3:162405889-162405890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146040092	chr3:162405949-162405950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568216998	chr3:162405952-162405953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139488838	chr3:162405964-162405965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191340069	chr3:162405982-162405983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144233594	chr3:162406020-162406021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538424799	chr3:162406056-162406057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558613252	chr3:162406065-162406066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35391586	chr3:162406091-162406092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565930566	chr3:162406092-162406093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534179546	chr3:162406123-162406124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534342123	chr3:162406129-162406130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62292499	chr3:162406183-162406184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574476927	chr3:162406197-162406198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145242506	chr3:162406246-162406247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543590819	chr3:162406279-162406280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557071347	chr3:162406297-162406298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182872712	chr3:162406298-162406299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185672961	chr3:162406312-162406313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9832503	chr3:162406334-162406335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190530479	chr3:162406416-162406417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541866764	chr3:162406437-162406438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561785951	chr3:162406468-162406469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9870314	chr3:162406469-162406470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148745950	chr3:162406490-162406491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142378954	chr3:162406491-162406492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532222339	chr3:162406492-162406493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552319946	chr3:162406542-162406543	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162402000-162402600	Enhancers	Fetal Heart	heart
2	chr3:162405800-162406600	Enhancers	Rectal Smooth Muscle	rectum
3	chr3:162407400-162408800	Enhancers	Dnd41	blood
4	chr3:162408800-162413800	Weak transcription	Dnd41	blood
5	chr3:162413800-162416400	Enhancers	Dnd41	blood
6	chr3:162416400-162416800	Weak transcription	Dnd41	blood
7	chr3:162416600-162417000	Enhancers	Fetal Lung	lung
8	chr3:162416800-162417400	Enhancers	Dnd41	blood
9	chr3:162417000-162417400	Weak transcription	Fetal Lung	lung
10	chr3:162417400-162417600	Enhancers	Fetal Lung	lung
11	chr3:162417400-162419400	Weak transcription	Dnd41	blood
12	chr3:162417600-162419600	Weak transcription	Fetal Lung	lung
13	chr3:162418200-162418600	Enhancers	Fetal Brain Male	brain
14	chr3:162419400-162419800	Enhancers	Dnd41	blood
15	chr3:162419600-162419800	Enhancers	Fetal Lung	lung
16	chr3:162419800-162421800	Weak transcription	Dnd41	blood
17	chr3:162420600-162421200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:162421200-162428200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:162421600-162422000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:162421800-162425400	Enhancers	Dnd41	blood
21	chr3:162422000-162422400	Enhancers	Brain Anterior Caudate	brain
22	chr3:162422000-162422400	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:162422000-162422600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:162422000-162422800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:162422000-162423000	Enhancers	Fetal Muscle Leg	muscle
26	chr3:162422200-162422600	Enhancers	Rectal Smooth Muscle	rectum
27	chr3:162422200-162422800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:162422200-162423000	Enhancers	A549	lung
29	chr3:162422200-162423000	Enhancers	HSMM	muscle
30	chr3:162422400-162422600	Enhancers	HSMMtube	muscle
31	chr3:162422400-162422800	Enhancers	Colon Smooth Muscle	Colon
32	chr3:162422400-162423000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:162422600-162423000	Flanking Active TSS	HSMMtube	muscle
34	chr3:162422600-162423000	Enhancers	NHDF-Ad	bronchial
35	chr3:162422800-162423200	Enhancers	Fetal Intestine Small	intestine
36	chr3:162422800-162423400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:162422800-162429400	Weak transcription	Colon Smooth Muscle	Colon
38	chr3:162423000-162426600	Weak transcription	A549	lung
39	chr3:162423400-162426000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:162424600-162425000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:162424800-162425000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr3:162425000-162428000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:162425400-162426600	Weak transcription	Dnd41	blood
44	chr3:162426000-162426600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:162426600-162426800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:162426600-162427000	Active TSS	A549	lung
47	chr3:162426600-162428200	Enhancers	Dnd41	blood
48	chr3:162426800-162427600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:162427000-162427200	Flanking Active TSS	A549	lung
50	chr3:162427200-162427400	Enhancers	A549	lung

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