Variant report

Variant	rs2051888
Chromosome Location	chr7:84165339-84165340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:84165144..84166088-chr7:84499191..84500054,5	MCF-7	breast:
2	chr7:84165149..84165684-chr7:84582450..84583007,2	MCF-7	breast:
3	chr7:84165149..84166023-chr7:84582151..84583096,5	MCF-7	breast:
4	chr7:84165204..84166004-chr7:84499385..84500020,2	MCF-7	breast:
5	chr7:83904428..83905120-chr7:84165177..84165677,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1014907	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10225378	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10252291	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10252535	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10252781	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10263739	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10265431	0.82[EUR][1000 genomes]
rs10278903	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10808307	0.88[EUR][1000 genomes]
rs10954757	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10954758	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11496186	0.86[EUR][1000 genomes]
rs11761298	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs11765801	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11974811	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11976978	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11980222	0.95[EUR][1000 genomes]
rs12154659	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12668064	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs12669783	0.87[EUR][1000 genomes]
rs12674098	0.88[EUR][1000 genomes]
rs12707656	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12707657	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13222404	0.85[EUR][1000 genomes]
rs13225742	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13236772	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13240278	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13247631	1.00[CEU][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs1541356	0.85[EUR][1000 genomes]
rs1981528	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2188987	0.87[EUR][1000 genomes]
rs2188988	0.87[EUR][1000 genomes]
rs2372172	0.86[EUR][1000 genomes]
rs2372175	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2372399	0.88[EUR][1000 genomes]
rs2372400	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28672750	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4130913	0.88[EUR][1000 genomes]
rs4132667	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4275166	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4291215	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4385399	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4397345	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4416778	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4422706	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4433073	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4434564	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480042	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4559166	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4644185	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4732558	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4732570	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4732571	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4732573	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4732576	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62473016	0.87[EUR][1000 genomes]
rs6952175	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6976570	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7777832	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7780912	0.86[EUR][1000 genomes]
rs7784312	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7785116	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7786412	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7795440	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7797033	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7807002	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs882625	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9640951	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9642186	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9642187	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv888634	chr7:84086502-84196258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv888636	chr7:84117594-84334498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv607710	chr7:84137622-84168615	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv888637	chr7:84137622-84213008	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv464620	chr7:84141077-84289915	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv607711	chr7:84141077-84289915	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv888638	chr7:84158180-84334498	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv888639	chr7:84158180-84344258	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv5821	chr7:84159713-84204468	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1019542	chr7:84162664-84200815	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84160000-84165400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:84161800-84165400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:84161800-84165400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:84162800-84165400	Weak transcription	NHDF-Ad	bronchial
5	chr7:84163000-84165400	Weak transcription	Fetal Kidney	kidney
6	chr7:84164600-84166200	Enhancers	Fetal Intestine Small	intestine
7	chr7:84164800-84165800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:84164800-84165800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:84164800-84166200	Enhancers	Fetal Intestine Large	intestine
10	chr7:84164800-84166400	Flanking Active TSS	A549	lung
11	chr7:84164800-84166800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:84165000-84165800	Enhancers	Stomach Smooth Muscle	stomach
13	chr7:84165000-84166200	Enhancers	Colon Smooth Muscle	Colon
14	chr7:84165200-84166000	Enhancers	Rectal Smooth Muscle	rectum
15	chr7:84165200-84166200	Enhancers	Hela-S3	cervix

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