Variant report

Variant	rs7598973
Chromosome Location	chr2:63652219-63652220
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63415883..63416512-chr2:63651703..63652517,3	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10164844	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs10171190	0.91[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs10200146	0.82[CHB][hapmap]
rs10209490	0.91[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs1022351	0.91[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs1022353	0.91[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs1033253	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11125968	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11125979	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs11676682	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11687234	0.86[CHB][hapmap]
rs11694795	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11694892	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12470121	0.85[CHB][hapmap]
rs12478262	0.85[CHB][hapmap]
rs12987806	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12995715	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13409031	0.91[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs13422170	0.91[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs1568174	0.86[CHB][hapmap]
rs1807843	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1878505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028886	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2034270	0.89[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap]
rs2138791	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs2178678	0.91[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs2421890	0.90[ASN][1000 genomes]
rs2421891	0.90[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2421892	0.91[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs2421954	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs2422008	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs262496	0.86[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2901581	0.81[CHB][hapmap]
rs3754540	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs4671061	0.91[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs4671501	0.85[CHB][hapmap]
rs4671502	0.85[CHB][hapmap]
rs4671507	0.86[CHB][hapmap]
rs4671511	0.81[ASN][1000 genomes]
rs62177834	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6546003	0.85[CHB][hapmap]
rs6731136	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs6735907	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs6737621	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs6756850	0.80[ASN][1000 genomes]
rs8179835	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv874234	chr2:63606001-63666590	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3382119	chr2:63634350-63660437	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
2	chr2:63631800-63652400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:63631800-63654600	Weak transcription	Primary T cells from cord blood	blood
4	chr2:63631800-63661600	Weak transcription	Ovary	ovary
5	chr2:63631800-63665600	Weak transcription	Primary B cells from cord blood	blood
6	chr2:63631800-63675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:63631800-63677200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
9	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
10	chr2:63632000-63665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:63634200-63665800	Weak transcription	Fetal Heart	heart
12	chr2:63642600-63652400	Weak transcription	Adipose Nuclei	Adipose
13	chr2:63643000-63673200	Weak transcription	Left Ventricle	heart
14	chr2:63652200-63652600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr2:63652200-63652600	Enhancers	NHDF-Ad	bronchial
16	chr2:63652200-63653000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr2:63652200-63653200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:63652200-63653200	Enhancers	Osteobl	bone
19	chr2:63652200-63653800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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