Variant report

Variant	rs848498
Chromosome Location	chr2:36660057-36660058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36659185..36660941-chr2:36665845..36668463,2	MCF-7	breast:
2	chr2:36581891..36584945-chr2:36659676..36663580,4	MCF-7	breast:
3	chr2:36605517..36607622-chr2:36658577..36660490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260025	Chromatin interaction
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11682688	0.95[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1477048	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs1523788	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs17018798	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs2110928	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2276673	0.91[ASN][1000 genomes]
rs34439217	0.91[ASN][1000 genomes]
rs3770885	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3770886	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3770903	0.82[ASN][1000 genomes]
rs3770955	0.85[JPT][hapmap]
rs3821157	1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs57393342	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6729186	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7571902	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.90[ASN][1000 genomes]
rs848500	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs848503	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs848507	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36644400-36665600	Weak transcription	Gastric	stomach
3	chr2:36648000-36660200	Weak transcription	Pancreas	Pancrea
4	chr2:36648200-36660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:36648200-36660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:36649600-36662200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:36650600-36676600	Weak transcription	Stomach Mucosa	stomach
8	chr2:36651600-36668400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:36651600-36668400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:36651800-36660200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:36651800-36668400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
13	chr2:36652200-36668600	Weak transcription	Primary B cells from cord blood	blood
14	chr2:36652400-36660200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:36652400-36660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:36653000-36667800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:36653400-36669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:36654600-36660200	Genic enhancers	Muscle Satellite Cultured Cells	--
19	chr2:36654800-36660800	Enhancers	Ovary	ovary
20	chr2:36655200-36660400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:36655400-36662600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:36656800-36660200	Enhancers	Adipose Nuclei	Adipose
23	chr2:36656800-36660200	Weak transcription	HSMMtube	muscle
24	chr2:36656800-36661000	Enhancers	Fetal Stomach	stomach
25	chr2:36657000-36660400	Weak transcription	Hela-S3	cervix
26	chr2:36657000-36665600	Genic enhancers	A549	lung
27	chr2:36657200-36660200	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:36657200-36660400	Enhancers	Colon Smooth Muscle	Colon
29	chr2:36657600-36661200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:36657600-36661600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:36657800-36660200	Weak transcription	Liver	Liver
32	chr2:36658000-36660200	Weak transcription	Right Atrium	heart
33	chr2:36658000-36660400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:36658000-36668400	Weak transcription	Esophagus	oesophagus
35	chr2:36658200-36660200	Enhancers	Stomach Smooth Muscle	stomach
36	chr2:36658200-36660800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:36658200-36661000	Enhancers	Fetal Kidney	kidney
38	chr2:36658400-36660200	Enhancers	Osteobl	bone
39	chr2:36658400-36665400	Enhancers	NHDF-Ad	bronchial
40	chr2:36658600-36660200	Enhancers	NHEK	skin
41	chr2:36658600-36660800	Enhancers	Fetal Muscle Leg	muscle
42	chr2:36658600-36661400	Enhancers	Fetal Lung	lung
43	chr2:36658800-36660200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:36658800-36660800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:36658800-36660800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:36658800-36660800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:36658800-36662200	Genic enhancers	HSMM	muscle
48	chr2:36659000-36660200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:36659000-36660200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:36659000-36660200	Enhancers	NHLF	lung

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