Variant report

Variant	nsv238000
Chromosome Location	chr3:21457534-21465809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:21461360-21461566	HepG2	liver:	n/a	chr3:21461443-21461454
2	GATA2	chr3:21459463-21460077	SH-SY5Y	brain:	n/a	chr3:21459516-21459527
3	GATA3	chr3:21459513-21459801	SH-SY5Y	brain:	n/a	chr3:21459516-21459527
4	POLR2A	chr3:21462732-21462871	MCF-7	breast:	n/a	n/a
5	POLR2A	chr3:21458995-21459120	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr3:21460243-21460322	MCF10A-Er-Src	breast:	n/a	n/a
7	REST	chr3:21463670-21463808	Hela-S3	cervix:	n/a	n/a
8	REST	chr3:21463649-21463802	K562	blood:	n/a	n/a
9	STAT3	chr3:21460334-21460484	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000272511	TF binding region

Extended variants
information (count: 325 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62235508	chr3:21457562-21457563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186865520	chr3:21457759-21457760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373500230	chr3:21457820-21457821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377201709	chr3:21457903-21457904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138556882	chr3:21457926-21457927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1611929	chr3:21457961-21457962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs570754643	chr3:21457977-21457978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367779365	chr3:21457996-21457997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17008650	chr3:21458081-21458082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375175258	chr3:21458084-21458085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192024686	chr3:21458108-21458109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568336178	chr3:21458115-21458116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535858737	chr3:21458125-21458126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111719907	chr3:21458130-21458131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554864093	chr3:21458195-21458196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376568704	chr3:21458210-21458211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576407606	chr3:21458223-21458224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12488141	chr3:21458240-21458241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141697200	chr3:21458265-21458266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550279380	chr3:21458283-21458284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76661134	chr3:21458311-21458312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73043595	chr3:21458324-21458325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559412249	chr3:21458337-21458338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs450092	chr3:21458362-21458363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs534602071	chr3:21458380-21458381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541810502	chr3:21458387-21458388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1507815	chr3:21458501-21458502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531102863	chr3:21458617-21458618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73043599	chr3:21458629-21458630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs112207805	chr3:21458700-21458701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564319890	chr3:21458772-21458773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111497260	chr3:21458810-21458811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528707873	chr3:21458856-21458857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13101102	chr3:21458861-21458862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568551786	chr3:21458862-21458863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535435158	chr3:21458865-21458866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569096571	chr3:21458897-21458898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183231231	chr3:21458904-21458905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1507816	chr3:21458916-21458917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531502351	chr3:21458929-21458930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537320237	chr3:21458949-21458950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17008657	chr3:21458995-21458996	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576926043	chr3:21459012-21459013	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs79929651	chr3:21459013-21459014	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534824251	chr3:21459046-21459047	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs376366528	chr3:21459080-21459081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs553283377	chr3:21459154-21459155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573432258	chr3:21459157-21459158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17008659	chr3:21459187-21459188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142683853	chr3:21459196-21459197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21452600-21462600	Weak transcription	Aorta	Aorta
2	chr3:21453200-21475600	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:21455000-21469000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:21455400-21459400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:21458800-21483400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:21459200-21459800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:21459200-21477200	Weak transcription	Fetal Lung	lung
8	chr3:21459400-21460200	Enhancers	NHDF-Ad	bronchial
9	chr3:21459400-21460600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:21460200-21474800	Weak transcription	NHDF-Ad	bronchial
11	chr3:21460600-21461800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:21460600-21462600	Weak transcription	Left Ventricle	heart
13	chr3:21461400-21468400	Weak transcription	Fetal Stomach	stomach
14	chr3:21461800-21465800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:21462600-21463000	Strong transcription	Aorta	Aorta
16	chr3:21462600-21463000	Strong transcription	Left Ventricle	heart
17	chr3:21463000-21465600	Weak transcription	Left Ventricle	heart
18	chr3:21463000-21491400	Weak transcription	Aorta	Aorta
19	chr3:21463600-21464400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:21464200-21464600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:21464400-21465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:21464800-21465200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:21465200-21465400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:21465800-21466600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links