Variant report

Variant	rs2278700
Chromosome Location	chr2:98427382-98427383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98416559..98419447-chr2:98426233..98427931,2	K562	blood:
2	chr2:98426137..98428822-chr2:98433655..98435579,2	K562	blood:
3	chr2:98426712..98429107-chr2:98611975..98614059,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10432626	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11678558	0.91[CEU][hapmap];0.84[AMR][1000 genomes]
rs11678591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11679828	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11680018	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680321	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11680883	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11681535	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11684749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686881	0.91[CEU][hapmap];0.97[TSI][hapmap]
rs11687510	0.87[CEU][hapmap];0.90[TSI][hapmap]
rs11688829	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11690687	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11690737	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11691494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692010	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692470	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11692671	0.82[EUR][1000 genomes]
rs12052222	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12052836	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12052846	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12104810	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12988571	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12995673	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13004090	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13006932	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13008968	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13020776	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13023980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13028954	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13032265	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032883	0.82[EUR][1000 genomes]
rs13033383	0.91[CEU][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap]
rs13034929	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1470483	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17488834	0.91[CEU][hapmap]
rs17488897	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17489287	0.81[GIH][hapmap]
rs17489454	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489984	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17490429	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1838797	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1875699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2044458	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2044459	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2084176	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2305143	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871183	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3192177	0.91[CEU][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34149969	0.87[EUR][1000 genomes]
rs34373359	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34502870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34503448	0.81[EUR][1000 genomes]
rs34528940	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34654057	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34974566	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35098301	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35218942	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35255677	0.82[EUR][1000 genomes]
rs35424768	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35505530	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35783535	0.82[EUR][1000 genomes]
rs4311104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851462	0.82[EUR][1000 genomes]
rs55776387	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55886305	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57681139	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58546246	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62156511	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710088	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6738389	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6746768	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748124	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6757357	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71412824	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71429376	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs717417	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7421146	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7564773	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7583868	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7601898	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895438	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs953320	1.00[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
6	chr2:98406400-98469200	Weak transcription	A549	lung
7	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
8	chr2:98409600-98429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
10	chr2:98410000-98427400	Weak transcription	HSMMtube	muscle
11	chr2:98410000-98427800	Weak transcription	Spleen	Spleen
12	chr2:98410000-98435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
14	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
15	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
18	chr2:98410800-98432000	Weak transcription	Fetal Intestine Small	intestine
19	chr2:98411000-98429200	Strong transcription	HSMM	muscle
20	chr2:98420400-98427600	Weak transcription	Fetal Kidney	kidney
21	chr2:98421400-98427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:98422000-98428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:98422000-98436200	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:98422000-98456200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:98422200-98427600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:98422200-98428800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:98423400-98431000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr2:98423600-98430800	Strong transcription	Fetal Thymus	thymus
29	chr2:98423800-98429600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:98423800-98437200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:98424000-98427800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:98424000-98430800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:98424000-98438600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:98424000-98442600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:98424000-98446800	Weak transcription	Fetal Heart	heart
36	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:98424200-98428200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:98424200-98429800	Strong transcription	Primary T cells from cord blood	blood
39	chr2:98424200-98432000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:98424200-98461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:98424400-98430800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:98424400-98431000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr2:98424400-98431000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:98424600-98430800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:98424600-98430800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:98424600-98431000	Strong transcription	Placenta	Placenta
47	chr2:98424600-98431200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:98424600-98432200	Strong transcription	Liver	Liver
49	chr2:98424800-98429200	Strong transcription	Fetal Lung	lung
50	chr2:98424800-98429200	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links