Variant report

Variant	nsv592159
Chromosome Location	chr3:162113116-162177290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
2	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:
3	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:
4	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:
5	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:

Extended variants
information (count: 1111 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1111 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115963866	chr3:162118429-162118430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6441452	chr3:162118430-162118431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552457363	chr3:162118434-162118435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559400804	chr3:162118468-162118469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528063466	chr3:162118469-162118470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568897535	chr3:162118476-162118477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200443193	chr3:162118497-162118498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs68090745	chr3:162118498-162118499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6441454	chr3:162118499-162118500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536742361	chr3:162118555-162118556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6775708	chr3:162118603-162118604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541565824	chr3:162118624-162118625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9874193	chr3:162118658-162118659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190279916	chr3:162118663-162118664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553596778	chr3:162118669-162118670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573436908	chr3:162118681-162118682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536179709	chr3:162118731-162118732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538752870	chr3:162118772-162118773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182458943	chr3:162118781-162118782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568797602	chr3:162118836-162118837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575754300	chr3:162118881-162118882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544669200	chr3:162118893-162118894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558290905	chr3:162118926-162118927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577075446	chr3:162118996-162118997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546040146	chr3:162118997-162118998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147675538	chr3:162119007-162119008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2405754	chr3:162119020-162119021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542149997	chr3:162119097-162119098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561525328	chr3:162119119-162119120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140972909	chr3:162119129-162119130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530429649	chr3:162119135-162119136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2405753	chr3:162119167-162119168	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs62292337	chr3:162119179-162119180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542623414	chr3:162119186-162119187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561003393	chr3:162119217-162119218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200589439	chr3:162119234-162119235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184296390	chr3:162119284-162119285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79280795	chr3:162119364-162119365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368634164	chr3:162119379-162119380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567092655	chr3:162119380-162119381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371928356	chr3:162119381-162119382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34353460	chr3:162119382-162119383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397700081	chr3:162119385-162119386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77016574	chr3:162119386-162119387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535769976	chr3:162119441-162119442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142432470	chr3:162119467-162119468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532410537	chr3:162119480-162119481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550569974	chr3:162119563-162119564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574991298	chr3:162129400-162129401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs548756776	chr3:162129409-162129410	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162118400-162119600	Enhancers	Fetal Heart	heart
2	chr3:162129400-162129800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr3:162129400-162130000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:162129400-162130000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:162129600-162130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr3:162137000-162147000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:162155200-162157200	ZNF genes & repeats	Dnd41	blood
8	chr3:162155600-162156000	Enhancers	Osteobl	bone
9	chr3:162157200-162161200	Weak transcription	Dnd41	blood
10	chr3:162159400-162160200	Enhancers	Fetal Heart	heart
11	chr3:162161200-162161400	Enhancers	Dnd41	blood
12	chr3:162161400-162169600	Weak transcription	Dnd41	blood
13	chr3:162167000-162168600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:162176200-162176400	ZNF genes & repeats	Pancreas	Pancrea

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