Variant report

Variant	nsv877730
Chromosome Location	chr3:162096395-162155076
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: 598 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543045307	chr3:162108205-162108206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115598446	chr3:162108231-162108232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190879306	chr3:162108347-162108348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548032818	chr3:162108404-162108405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139082442	chr3:162108405-162108406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530312854	chr3:162108480-162108481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550491228	chr3:162108505-162108506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149917580	chr3:162108573-162108574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539030152	chr3:162108639-162108640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6795724	chr3:162108640-162108641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113250251	chr3:162108649-162108650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533709714	chr3:162108737-162108738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553525933	chr3:162108749-162108750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573532815	chr3:162108845-162108846	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528940137	chr3:162108925-162108926	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542692085	chr3:162108953-162108954	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs183257966	chr3:162108991-162108992	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550208591	chr3:162108992-162108993	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575899561	chr3:162108998-162108999	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544997788	chr3:162109013-162109014	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547118321	chr3:162109061-162109062	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564946351	chr3:162109103-162109104	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs572151184	chr3:162109126-162109127	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541161816	chr3:162109156-162109157	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561457789	chr3:162109170-162109171	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374069684	chr3:162109194-162109195	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550163555	chr3:162109210-162109211	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564020220	chr3:162109235-162109236	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs73155884	chr3:162109264-162109265	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117076015	chr3:162109300-162109301	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs144996350	chr3:162109316-162109317	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527846875	chr3:162109365-162109366	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs552742925	chr3:162109376-162109377	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs2897223	chr3:162109383-162109384	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570321136	chr3:162109397-162109398	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374571891	chr3:162109415-162109416	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186506594	chr3:162109457-162109458	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141019433	chr3:162109484-162109485	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144834886	chr3:162109521-162109522	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371567674	chr3:162109543-162109544	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576300271	chr3:162109584-162109585	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76654483	chr3:162109592-162109593	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4263305	chr3:162109656-162109657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150643837	chr3:162109750-162109751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568497286	chr3:162109751-162109752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191440450	chr3:162109752-162109753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182945187	chr3:162109765-162109766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146762511	chr3:162109802-162109803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141181793	chr3:162109843-162109844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544011779	chr3:162109880-162109881	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:34 , 50 per page) page: 1

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

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