Variant report

Variant	esv3347402
Chromosome Location	chr3:81785662-81787710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:106764982..106765563-chr3:81785599..81786353,2	MCF-7	breast:
2	chr3:81787254..81789520-chr3:81792273..81794615,3	MCF-7	breast:
3	chr3:81784646..81786300-chr3:81807469..81810192,2	MCF-7	breast:
4	chr3:81784885..81787664-chr3:81810535..81812147,2	K562	blood:
5	chr3:81776433..81778191-chr3:81783098..81785714,2	K562	blood:

Variant related genes	Relation type
ENSG00000114480	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139453951	chr3:81785673-81785674	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535300594	chr3:81785685-81785686	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555285850	chr3:81785703-81785704	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575110645	chr3:81785737-81785738	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544026210	chr3:81785805-81785806	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190464266	chr3:81785834-81785835	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143571692	chr3:81785876-81785877	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147163142	chr3:81785973-81785974	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367723508	chr3:81786054-81786055	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563780444	chr3:81786109-81786110	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139584417	chr3:81786114-81786115	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532774142	chr3:81786185-81786186	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73853480	chr3:81786187-81786188	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564237013	chr3:81786275-81786276	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149725121	chr3:81786297-81786298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373496976	chr3:81786328-81786329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530658834	chr3:81786339-81786340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550321503	chr3:81786352-81786353	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570572800	chr3:81786354-81786355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539719678	chr3:81786362-81786363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532608788	chr3:81786365-81786366	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114552573	chr3:81786382-81786383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144529932	chr3:81786385-81786386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs199884237	chr3:81786395-81786396	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534991854	chr3:81786409-81786410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111534775	chr3:81786451-81786452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7431747	chr3:81786453-81786454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1530672	chr3:81786460-81786461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11926989	chr3:81786472-81786473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11915131	chr3:81786478-81786479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10576579	chr3:81786493-81786494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs13085901	chr3:81786494-81786495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs13063285	chr3:81786501-81786502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13063290	chr3:81786508-81786509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs13085907	chr3:81786510-81786511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs3930767	chr3:81786518-81786519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13086048	chr3:81786519-81786520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs6795260	chr3:81786520-81786521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs3930766	chr3:81786521-81786522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7431760	chr3:81786524-81786525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13086054	chr3:81786528-81786529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372467618	chr3:81786539-81786540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11927018	chr3:81786540-81786541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373310167	chr3:81786554-81786555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs62267090	chr3:81786560-81786561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200635536	chr3:81786561-81786562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6548772	chr3:81786564-81786565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548943826	chr3:81786576-81786577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547901076	chr3:81786577-81786578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182618499	chr3:81786651-81786652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81727200-81792200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:81766600-81791200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:81773200-81792200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:81776000-81807400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:81776400-81789400	Weak transcription	HSMMtube	muscle
6	chr3:81778600-81789600	Weak transcription	Aorta	Aorta
7	chr3:81778600-81789600	Weak transcription	HSMM	muscle
8	chr3:81779000-81790000	Weak transcription	HUVEC	blood vessel
9	chr3:81779200-81789200	Weak transcription	Right Ventricle	heart
10	chr3:81779200-81789600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:81779200-81791200	Weak transcription	Liver	Liver
12	chr3:81779400-81789600	Weak transcription	NHLF	lung
13	chr3:81781000-81792200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:81781800-81786200	Enhancers	A549	lung
16	chr3:81782200-81800400	Weak transcription	Primary B cells from cord blood	blood
17	chr3:81782400-81800200	Weak transcription	Left Ventricle	heart
18	chr3:81782800-81787800	Weak transcription	GM12878-XiMat	blood
19	chr3:81782800-81791200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:81782800-81796600	Weak transcription	Right Atrium	heart
21	chr3:81783000-81785800	Enhancers	NHEK	skin
22	chr3:81783000-81789600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:81783400-81786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:81783600-81785800	Enhancers	HMEC	breast
25	chr3:81783600-81786000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:81783600-81786200	Enhancers	Hela-S3	cervix
27	chr3:81783800-81785800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:81783800-81785800	Enhancers	Psoas Muscle	Psoas
29	chr3:81784000-81786000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:81784000-81789600	Weak transcription	NHDF-Ad	bronchial
31	chr3:81784400-81785800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:81784400-81785800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr3:81784400-81786200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:81784600-81791000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:81784800-81789600	Weak transcription	Osteobl	bone
36	chr3:81784800-81792800	Weak transcription	HepG2	liver
37	chr3:81785200-81789600	Weak transcription	Adipose Nuclei	Adipose
38	chr3:81785200-81793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:81785400-81785800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:81785400-81786200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:81785400-81789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:81785400-81789400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:81785400-81790000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:81785600-81786200	Strong transcription	Dnd41	blood
45	chr3:81785600-81793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:81785800-81786400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:81785800-81789600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:81785800-81790600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:81785800-81791200	Weak transcription	HMEC	breast
50	chr3:81785800-81791200	Weak transcription	NHEK	skin

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