Variant report

Variant	rs2190050
Chromosome Location	chr7:84164341-84164342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1029539	0.89[ASN][1000 genomes]
rs10808307	0.83[ASN][1000 genomes]
rs11761298	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs11980222	0.88[ASN][1000 genomes]
rs12668064	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12669783	0.83[ASN][1000 genomes]
rs12670015	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12674098	0.82[ASN][1000 genomes]
rs12707654	0.90[ASN][1000 genomes]
rs13225152	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13247631	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1541356	0.85[ASN][1000 genomes]
rs17159126	0.86[CEU][hapmap]
rs1922339	0.89[ASN][1000 genomes]
rs1922342	0.90[ASN][1000 genomes]
rs1922343	0.88[ASN][1000 genomes]
rs2023989	0.91[ASN][1000 genomes]
rs2188987	0.83[ASN][1000 genomes]
rs2188988	0.83[ASN][1000 genomes]
rs2214748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372172	0.80[ASN][1000 genomes]
rs2372399	0.83[ASN][1000 genomes]
rs2527543	0.88[ASN][1000 genomes]
rs2706896	0.86[ASN][1000 genomes]
rs2706926	0.89[ASN][1000 genomes]
rs2706927	0.89[ASN][1000 genomes]
rs2706928	0.89[ASN][1000 genomes]
rs2715033	0.87[ASN][1000 genomes]
rs2715034	0.86[ASN][1000 genomes]
rs2715036	0.85[ASN][1000 genomes]
rs3815067	0.86[CEU][hapmap]
rs62472049	0.89[EUR][1000 genomes]
rs62473016	0.84[ASN][1000 genomes]
rs7780912	0.81[ASN][1000 genomes]
rs7790652	0.90[CEU][hapmap];0.83[CHB][hapmap]
rs7795496	0.91[ASN][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84159400-84165000	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:84160000-84165400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:84160800-84165200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:84160800-84165200	Weak transcription	Hela-S3	cervix
5	chr7:84161800-84164800	Weak transcription	Fetal Intestine Large	intestine
6	chr7:84161800-84165400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:84161800-84165400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:84162000-84164800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:84162000-84164800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:84162400-84164600	Weak transcription	Fetal Intestine Small	intestine
11	chr7:84162800-84165400	Weak transcription	NHDF-Ad	bronchial
12	chr7:84163000-84165400	Weak transcription	Fetal Kidney	kidney
13	chr7:84163200-84164800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:84164200-84164800	Enhancers	A549	lung

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