Variant report

Variant	esv2756916
Chromosome Location	chr2:37047353-37048951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37048381..37050442-chr2:37052103..37054094,2	MCF-7	breast:
2	chr2:37047490..37050281-chr2:37192919..37195129,2	K562	blood:
3	chr2:37045354..37047713-chr2:37230824..37232867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115808	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2160334	chr2:37047353-37047354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531848924	chr2:37047355-37047356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550140968	chr2:37047356-37047357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568616757	chr2:37047441-37047442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536008151	chr2:37047480-37047481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554636440	chr2:37047484-37047485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566530169	chr2:37047487-37047488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544296114	chr2:37047512-37047513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533770345	chr2:37047526-37047527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2110883	chr2:37047528-37047529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183496953	chr2:37047565-37047566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145465945	chr2:37047627-37047628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370283893	chr2:37047630-37047631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574575453	chr2:37047631-37047632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532957790	chr2:37047641-37047642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201341023	chr2:37047650-37047651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2110882	chr2:37047651-37047652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs540359153	chr2:37047688-37047689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115369641	chr2:37047732-37047733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs17019886	chr2:37047741-37047742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545815634	chr2:37047750-37047751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2160333	chr2:37047774-37047775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549645795	chr2:37047782-37047783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188230517	chr2:37047789-37047790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181808719	chr2:37047807-37047808	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529496269	chr2:37047831-37047832	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11693564	chr2:37047841-37047842	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7424163	chr2:37047867-37047868	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10206462	chr2:37047901-37047902	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10206463	chr2:37047906-37047907	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570442618	chr2:37047917-37047918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10182782	chr2:37047930-37047931	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs137977771	chr2:37048019-37048020	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370260135	chr2:37048028-37048029	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374643806	chr2:37048029-37048030	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77476564	chr2:37048048-37048049	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547098787	chr2:37048052-37048053	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187612925	chr2:37048072-37048073	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189942610	chr2:37048074-37048075	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182177404	chr2:37048083-37048084	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186797651	chr2:37048101-37048102	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79276301	chr2:37048153-37048154	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75360518	chr2:37048163-37048164	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs75200977	chr2:37048168-37048169	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191292584	chr2:37048181-37048182	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548024389	chr2:37048182-37048183	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10174403	chr2:37048183-37048184	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527413186	chr2:37048186-37048187	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370134716	chr2:37048221-37048222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142561116	chr2:37048225-37048226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37044200-37051000	Enhancers	Adipose Nuclei	Adipose
2	chr2:37045000-37047800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:37045200-37051400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:37045600-37048000	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr2:37045600-37049600	Enhancers	Stomach Mucosa	stomach
6	chr2:37045600-37050000	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:37045800-37048200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:37046200-37049200	Enhancers	HepG2	liver
9	chr2:37046600-37049600	Enhancers	Liver	Liver
10	chr2:37047000-37048200	Enhancers	Colonic Mucosa	Colon
11	chr2:37047200-37050600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:37047400-37047600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:37047600-37047800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:37047600-37048200	Enhancers	Pancreas	Pancrea
15	chr2:37047600-37048400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:37047600-37049600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:37047800-37048200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr2:37047800-37048800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:37047800-37049200	Enhancers	Fetal Stomach	stomach
20	chr2:37047800-37049400	Enhancers	Small Intestine	intestine
21	chr2:37048000-37048200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr2:37048200-37049200	Weak transcription	Colonic Mucosa	Colon
23	chr2:37048200-37049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:37048200-37050000	Enhancers	Fetal Intestine Small	intestine
25	chr2:37048200-37050400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr2:37048200-37050800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:37048400-37049000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:37048400-37049000	Enhancers	Fetal Kidney	kidney
29	chr2:37048800-37049600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:37048800-37050000	Enhancers	Fetal Intestine Large	intestine
31	chr2:37048800-37051200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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