Variant report

Variant	rs58610630
Chromosome Location	chr2:96025229-96025230
allele	C/G
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: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10874471	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11164125	0.90[ASN][1000 genomes]
rs11897976	0.83[AMR][1000 genomes]
rs12468777	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559483	0.82[AFR][1000 genomes]
rs1862897	0.84[AMR][1000 genomes]
rs2042477	0.84[AMR][1000 genomes]
rs2113417	0.84[AMR][1000 genomes]
rs2113419	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2320431	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755518	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755519	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3772031	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3772032	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3772033	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3821341	0.83[AMR][1000 genomes]
rs4283455	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4854251	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4854253	0.89[ASN][1000 genomes]
rs61649840	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6577013	0.88[AFR][1000 genomes]
rs6741001	0.84[AMR][1000 genomes]
rs6750542	0.83[AMR][1000 genomes]
rs67628541	0.90[ASN][1000 genomes]
rs72821422	0.90[ASN][1000 genomes]
rs7602807	0.84[AMR][1000 genomes]
rs869185	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918811	0.84[AMR][1000 genomes]
rs954078	0.82[EUR][1000 genomes]
rs9678800	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9989786	0.82[AMR][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58610630	KCNIP3	cis	Thyroid	GTEx

Chromatin state (count:26 , 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	chr2:96013600-96026400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:96014200-96041400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:96021200-96039800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:96022800-96026200	Weak transcription	Pancreas	Pancrea
7	chr2:96023200-96026200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:96023600-96025800	Enhancers	Fetal Muscle Leg	muscle
9	chr2:96024000-96025800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:96024400-96025600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:96025000-96025400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:96025000-96025400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:96025000-96025400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:96025000-96025400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:96025000-96025400	Enhancers	NH-A	brain
16	chr2:96025000-96025600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:96025000-96025600	Enhancers	HSMM	muscle
18	chr2:96025000-96025600	Enhancers	NHDF-Ad	bronchial
19	chr2:96025200-96025400	Enhancers	Ovary	ovary
20	chr2:96025200-96025600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:96025200-96025600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:96025200-96025600	Enhancers	Adipose Nuclei	Adipose
23	chr2:96025200-96025600	Enhancers	Right Atrium	heart
24	chr2:96025200-96025800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:96025200-96025800	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:96025200-96025800	Bivalent Enhancer	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links