Variant report

Variant	nsv829777
Chromosome Location	chr3:162515887-162677704
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
2	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
3	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
4	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
5	chr16:87583726..87584390-chr3:162551047..162551567,2	MCF-7	breast:
6	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
7	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
8	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
9	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
10	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
11	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
12	chr16:87583669..87584291-chr3:162551047..162551567,2	MCF-7	breast:
13	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-2	chr3:162631870-162632022	NONHSAT093026

No data

Extended variants
information (count: 2145 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2145 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75273945	chr3:162515888-162515889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144624622	chr3:162515909-162515910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550820478	chr3:162515926-162515927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190207883	chr3:162515958-162515959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533125830	chr3:162515984-162515985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145742323	chr3:162516000-162516001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148960060	chr3:162516026-162516027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143724700	chr3:162516048-162516049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151085548	chr3:162516055-162516056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9854082	chr3:162516066-162516067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577711686	chr3:162516076-162516077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537354599	chr3:162516136-162516137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375241763	chr3:162516152-162516153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539043686	chr3:162516232-162516233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12185924	chr3:162516272-162516273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147091126	chr3:162516292-162516293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs66548576	chr3:162516293-162516294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71154416	chr3:162516294-162516295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182435644	chr3:162516304-162516305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141370025	chr3:162516444-162516445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552922495	chr3:162516499-162516500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572897116	chr3:162516513-162516514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145138296	chr3:162516516-162516517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561953637	chr3:162516524-162516525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139021658	chr3:162516612-162516613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542372151	chr3:162516636-162516637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544522751	chr3:162516640-162516641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11916098	chr3:162516680-162516681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141494917	chr3:162516701-162516702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546720299	chr3:162516764-162516765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560538239	chr3:162516787-162516788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114994636	chr3:162516833-162516834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549417667	chr3:162516883-162516884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150302934	chr3:162516887-162516888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs137939765	chr3:162516943-162516944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11916978	chr3:162516998-162516999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149480524	chr3:162517041-162517042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185829534	chr3:162517081-162517082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541706534	chr3:162517121-162517122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552696478	chr3:162517148-162517149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143977849	chr3:162517181-162517182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148664027	chr3:162517233-162517234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12185935	chr3:162517279-162517280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551315861	chr3:162517386-162517387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142805877	chr3:162517424-162517425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs59097265	chr3:162517462-162517463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564333961	chr3:162517470-162517471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189946994	chr3:162517486-162517487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139779839	chr3:162517542-162517543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560296941	chr3:162517626-162517627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162503400-162519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162516600-162517800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:162517800-162520400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:162519400-162520800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:162519800-162520800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:162520400-162520800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:162520400-162520800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:162520800-162521800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:162522000-162522200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:162532800-162533400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:162542600-162543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:162547000-162547600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr3:162559600-162562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:162563200-162564400	Enhancers	Dnd41	blood
15	chr3:162563400-162563800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr3:162563400-162564000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr3:162564400-162564600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:162570800-162571600	Enhancers	Dnd41	blood
19	chr3:162571200-162572000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr3:162572800-162575200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:162582600-162584000	Enhancers	Dnd41	blood
22	chr3:162583400-162583800	Active TSS	Osteobl	bone
23	chr3:162583400-162584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:162584200-162584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:162584600-162585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:162584600-162585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:162596800-162597400	Enhancers	Dnd41	blood
28	chr3:162600400-162601000	Enhancers	Colon Smooth Muscle	Colon
29	chr3:162600800-162601200	Enhancers	Dnd41	blood
30	chr3:162601000-162603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:162608800-162610400	ZNF genes & repeats	Dnd41	blood
32	chr3:162609000-162611200	Weak transcription	Right Atrium	heart
33	chr3:162610200-162610800	Enhancers	A549	lung
34	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:162634000-162634400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr3:162634400-162662200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:162636200-162653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:162646800-162647200	Enhancers	Fetal Lung	lung
39	chr3:162647200-162647600	Weak transcription	Fetal Lung	lung
40	chr3:162647600-162648400	Enhancers	Fetal Lung	lung
41	chr3:162648200-162648400	Enhancers	Aorta	Aorta
42	chr3:162648400-162650400	Weak transcription	Fetal Lung	lung
43	chr3:162648400-162662400	Weak transcription	Aorta	Aorta
44	chr3:162650400-162651200	Enhancers	Fetal Lung	lung
45	chr3:162651200-162655400	Weak transcription	Fetal Lung	lung
46	chr3:162653200-162654400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:162653800-162655000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:162654000-162655800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:162654200-162654800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:162654200-162655400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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