Variant report

Variant	rs2320431
Chromosome Location	chr2:96024876-96024877
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96023525..96026333-chr2:96066981..96069302,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115042	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10874471	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11164122	1.00[YRI][hapmap]
rs11164125	1.00[ASW][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs11677429	0.86[JPT][hapmap]
rs11897976	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs12468117	0.90[JPT][hapmap]
rs12468777	0.93[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471472	0.86[JPT][hapmap]
rs1364394	1.00[ASW][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap]
rs1862897	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs2042477	1.00[YRI][hapmap]
rs2113417	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs2113419	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3755518	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755520	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs3755521	1.00[YRI][hapmap]
rs3755523	1.00[ASW][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3772031	0.91[MEX][hapmap]
rs3772032	0.91[MEX][hapmap]
rs3772033	0.91[MEX][hapmap]
rs3772041	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs3772042	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs3772043	1.00[YRI][hapmap]
rs3772044	0.91[MEX][hapmap]
rs3821341	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs4854251	1.00[ASW][hapmap];0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4854253	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs58610630	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61649840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6577012	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs6577013	0.91[MEX][hapmap]
rs6715813	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs6741001	1.00[YRI][hapmap]
rs6750542	0.82[YRI][hapmap]
rs67628541	0.90[ASN][1000 genomes]
rs72821422	0.90[ASN][1000 genomes]
rs7574862	0.84[ASW][hapmap];0.87[MEX][hapmap];1.00[YRI][hapmap]
rs7580685	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs7594144	1.00[YRI][hapmap]
rs869185	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870393	0.91[MEX][hapmap]
rs889851	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs889852	0.91[MEX][hapmap]
rs889853	1.00[YRI][hapmap]
rs918811	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs954078	0.86[CEU][hapmap]
rs9678800	0.91[MEX][hapmap]
rs9989786	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2320431	KCNIP3	cis	cerebellum	SCAN
rs2320431	KCNIP3	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96013000-96027800	Weak transcription	Gastric	stomach
2	chr2:96013000-96034400	Weak transcription	Aorta	Aorta
3	chr2:96013600-96025000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:96013600-96026400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:96014200-96041400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:96015000-96025200	Weak transcription	Ovary	ovary
7	chr2:96021000-96025200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:96021200-96039800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:96022800-96026200	Weak transcription	Pancreas	Pancrea
10	chr2:96023200-96026200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:96023400-96025200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:96023600-96025800	Enhancers	Fetal Muscle Leg	muscle
13	chr2:96023800-96025200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:96024000-96025800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:96024400-96025200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:96024400-96025600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:96024800-96025000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links