Variant report

Variant	nsv519474
Chromosome Location	chr3:160620205-160630267
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	chr3:160620374..160622809-chr3:160634406..160636878,2	MCF-7	breast:
2	chr3:160472665..160476434-chr3:160627651..160631285,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163590	chromatin interactions
ENSG00000260572	chromatin interactions

Extended variants
information (count: 385 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11711152	chr3:160620205-160620206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138111648	chr3:160620316-160620317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547827895	chr3:160620319-160620320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538631427	chr3:160620343-160620344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112846152	chr3:160620362-160620363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187338958	chr3:160620371-160620372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1374791	chr3:160620372-160620373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575229371	chr3:160620437-160620438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542630911	chr3:160620496-160620497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200186103	chr3:160620521-160620522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372080983	chr3:160620597-160620598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551695979	chr3:160620609-160620610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143836592	chr3:160620618-160620619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10688205	chr3:160620627-160620628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531305751	chr3:160620637-160620638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551413386	chr3:160620715-160620716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149531563	chr3:160620784-160620785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60030122	chr3:160620788-160620789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547202467	chr3:160620802-160620803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567207673	chr3:160620833-160620834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143150713	chr3:160620858-160620859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17826412	chr3:160620878-160620879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142791227	chr3:160620879-160620880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147379785	chr3:160620892-160620893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75278872	chr3:160620912-160620913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558963872	chr3:160620931-160620932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77694520	chr3:160620936-160620937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141428050	chr3:160620952-160620953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373879758	chr3:160620953-160620954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143568359	chr3:160620960-160620961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60731351	chr3:160620981-160620982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372431617	chr3:160620982-160620983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59061198	chr3:160620984-160620985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71635273	chr3:160620989-160620990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57599511	chr3:160620991-160620992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs60623390	chr3:160620995-160620996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59232471	chr3:160620996-160620997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs67337321	chr3:160620997-160620998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57262225	chr3:160620999-160621000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5005883	chr3:160621004-160621005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9878182	chr3:160621008-160621009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71147391	chr3:160621016-160621017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114034112	chr3:160621053-160621054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1447624	chr3:160621070-160621071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1447625	chr3:160621082-160621083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139517547	chr3:160621177-160621178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143460965	chr3:160621179-160621180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1348977	chr3:160621195-160621196	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564957072	chr3:160621279-160621280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192111528	chr3:160621327-160621328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	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
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160615800-160620800	Weak transcription	Fetal Brain Male	brain
2	chr3:160616600-160627600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:160617200-160620800	Weak transcription	Psoas Muscle	Psoas
4	chr3:160620600-160621000	Enhancers	Stomach Mucosa	stomach
5	chr3:160620800-160621200	Enhancers	Psoas Muscle	Psoas
6	chr3:160620800-160621400	Enhancers	Fetal Brain Male	brain
7	chr3:160621200-160629200	Weak transcription	Psoas Muscle	Psoas
8	chr3:160621400-160621800	Weak transcription	Fetal Brain Male	brain
9	chr3:160621800-160622000	Enhancers	Fetal Brain Male	brain
10	chr3:160621800-160622000	Enhancers	Right Ventricle	heart
11	chr3:160622000-160628800	Weak transcription	Fetal Brain Male	brain
12	chr3:160622400-160622600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr3:160622600-160622800	Enhancers	Left Ventricle	heart
14	chr3:160622600-160622800	Enhancers	Right Ventricle	heart
15	chr3:160622600-160628800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:160622800-160624400	Weak transcription	Left Ventricle	heart
17	chr3:160624400-160624800	ZNF genes & repeats	Left Ventricle	heart
18	chr3:160624800-160625400	Weak transcription	Left Ventricle	heart
19	chr3:160625400-160625800	Enhancers	Left Ventricle	heart
20	chr3:160625600-160626000	Enhancers	Fetal Brain Female	brain
21	chr3:160625800-160629200	Weak transcription	Left Ventricle	heart
22	chr3:160626000-160626600	Weak transcription	Fetal Brain Female	brain
23	chr3:160626600-160626800	Enhancers	Fetal Brain Female	brain
24	chr3:160627000-160627200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:160627000-160627800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:160627400-160628000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:160627600-160627800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:160628800-160629000	Enhancers	Fetal Brain Male	brain
29	chr3:160628800-160629200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:160628800-160630000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:160629000-160629400	Weak transcription	Fetal Brain Male	brain
32	chr3:160629000-160629600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:160629000-160629600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:160629000-160629600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:160629200-160629600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:160629200-160629600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:160629200-160629600	Enhancers	Brain Substantia Nigra	brain
38	chr3:160629200-160629600	Enhancers	Left Ventricle	heart
39	chr3:160629200-160629600	Enhancers	Right Ventricle	heart
40	chr3:160629200-160630200	Enhancers	Psoas Muscle	Psoas
41	chr3:160630200-160641400	Weak transcription	Psoas Muscle	Psoas

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