Variant report

Variant	nsv877729
Chromosome Location	chr3:162092216-162155076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 654 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6779642	chr3:162094087-162094088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76907816	chr3:162094140-162094141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13092354	chr3:162094173-162094174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185163720	chr3:162094194-162094195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188412209	chr3:162094214-162094215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183396920	chr3:162094220-162094221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559529392	chr3:162094245-162094246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146122486	chr3:162094315-162094316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11454853	chr3:162094380-162094381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574221255	chr3:162094405-162094406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115109194	chr3:162094419-162094420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2897222	chr3:162094430-162094431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs114016638	chr3:162094470-162094471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565338816	chr3:162094486-162094487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139924371	chr3:162094538-162094539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540024973	chr3:162094580-162094581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560273604	chr3:162094587-162094588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529110778	chr3:162094591-162094592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560031922	chr3:162094667-162094668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80284440	chr3:162094680-162094681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568858355	chr3:162094692-162094693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149840925	chr3:162094725-162094726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145867579	chr3:162094771-162094772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181175702	chr3:162094774-162094775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533906905	chr3:162094859-162094860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80176821	chr3:162094878-162094879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115034303	chr3:162094893-162094894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577956586	chr3:162095021-162095022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536495283	chr3:162095030-162095031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556850914	chr3:162095039-162095040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141271219	chr3:162095042-162095043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34626421	chr3:162095044-162095045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576820286	chr3:162095132-162095133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145043883	chr3:162095196-162095197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76350971	chr3:162095247-162095248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11391294	chr3:162095270-162095271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147571033	chr3:162095337-162095338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185867247	chr3:162095359-162095360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545596511	chr3:162095371-162095372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142038405	chr3:162095374-162095375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561265480	chr3:162095399-162095400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141613429	chr3:162095402-162095403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77993198	chr3:162095403-162095404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190288330	chr3:162095413-162095414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145905460	chr3:162095419-162095420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147610845	chr3:162095441-162095442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562838744	chr3:162095458-162095459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542416021	chr3:162095466-162095467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75456991	chr3:162095505-162095506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531515617	chr3:162095513-162095514	Enhancers	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162094000-162094600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:162094200-162094800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:162094200-162095000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:162094800-162095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:162095400-162095600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:162108200-162108800	Enhancers	A549	lung
7	chr3:162108200-162109000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:162108200-162110400	Enhancers	Hela-S3	cervix
9	chr3:162108200-162110600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:162108200-162110800	Enhancers	HSMM	muscle
11	chr3:162108400-162109000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:162108600-162108800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:162108600-162110400	Enhancers	Osteobl	bone
14	chr3:162108600-162110600	Enhancers	NHDF-Ad	bronchial
15	chr3:162108800-162109000	Flanking Active TSS	A549	lung
16	chr3:162108800-162109400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:162108800-162109600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:162109000-162109400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:162109000-162109400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:162109000-162109400	Active TSS	A549	lung
21	chr3:162109000-162109600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:162109000-162110400	Enhancers	HMEC	breast
23	chr3:162109000-162110600	Enhancers	NH-A	brain
24	chr3:162109200-162110600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:162109400-162109600	Weak transcription	A549	lung
26	chr3:162109400-162109800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:162109400-162110600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:162109600-162110000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:162109600-162110200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:162109600-162110400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:162109600-162110600	Enhancers	A549	lung
32	chr3:162109800-162110400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:162109800-162110400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:162118400-162119600	Enhancers	Fetal Heart	heart
35	chr3:162129400-162129800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr3:162129400-162130000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr3:162129400-162130000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr3:162129600-162130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr3:162137000-162147000	Weak transcription	H9 Cell Line	embryonic stem cell

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