Variant report

Variant	nsv999651
Chromosome Location	chr3:162632001-162655486
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	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
2	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:

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

Extended variants
information (count: 959 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:959 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs206868	chr3:162632001-162632002	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577863837	chr3:162632002-162632003	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs183353901	chr3:162632016-162632017	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs531235892	chr3:162632019-162632020	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs12632433	chr3:162632020-162632021	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542235590	chr3:162632049-162632050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375647865	chr3:162632062-162632063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12630083	chr3:162632090-162632091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184983501	chr3:162632104-162632105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528462952	chr3:162632167-162632168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150907017	chr3:162632219-162632220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565142240	chr3:162632226-162632227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35990141	chr3:162632298-162632299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76269144	chr3:162632303-162632304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561231726	chr3:162632385-162632386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550846091	chr3:162632396-162632397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73021309	chr3:162632415-162632416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539168318	chr3:162632463-162632464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73021311	chr3:162632514-162632515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570001832	chr3:162632531-162632532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs66534967	chr3:162632550-162632551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552699103	chr3:162632570-162632571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67406333	chr3:162632628-162632629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148283004	chr3:162632702-162632703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372202926	chr3:162632703-162632704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189840661	chr3:162632723-162632724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536449184	chr3:162632786-162632787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141457179	chr3:162632841-162632842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138997859	chr3:162632890-162632891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554133960	chr3:162632940-162632941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573874296	chr3:162632950-162632951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35160754	chr3:162633002-162633003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112022468	chr3:162633021-162633022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575944655	chr3:162633074-162633075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544824495	chr3:162633139-162633140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6785860	chr3:162633155-162633156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145049929	chr3:162633183-162633184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541207667	chr3:162633188-162633189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561120940	chr3:162633297-162633298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530344399	chr3:162633325-162633326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6788364	chr3:162633330-162633331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554952101	chr3:162633362-162633363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183251998	chr3:162633369-162633370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6788469	chr3:162633370-162633371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552735975	chr3:162633381-162633382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566154673	chr3:162633405-162633406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147568984	chr3:162633415-162633416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6801904	chr3:162633424-162633425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs206266	chr3:162633443-162633444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs57730376	chr3:162633450-162633451	Weak transcription	n/a	n/a	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	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:162634000-162634400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr3:162634400-162662200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:162636200-162653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:162646800-162647200	Enhancers	Fetal Lung	lung
6	chr3:162647200-162647600	Weak transcription	Fetal Lung	lung
7	chr3:162647600-162648400	Enhancers	Fetal Lung	lung
8	chr3:162648200-162648400	Enhancers	Aorta	Aorta
9	chr3:162648400-162650400	Weak transcription	Fetal Lung	lung
10	chr3:162648400-162662400	Weak transcription	Aorta	Aorta
11	chr3:162650400-162651200	Enhancers	Fetal Lung	lung
12	chr3:162651200-162655400	Weak transcription	Fetal Lung	lung
13	chr3:162653200-162654400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:162653800-162655000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:162654000-162655800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:162654200-162654800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:162654200-162655400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:162654400-162654800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:162654400-162665200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:162654600-162654800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:162654800-162655400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:162654800-162655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:162655400-162655600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:162655400-162656000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:162655400-162656200	Enhancers	Fetal Lung	lung

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