Variant report

Variant	rs4545651
Chromosome Location	chr12:105716762-105716763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105716740..105719219-chr12:105722490..105724843,2	MCF-7	breast:
2	chr12:105715517..105717332-chr12:105717819..105719410,2	MCF-7	breast:
3	chr12:105711659..105713820-chr12:105714084..105716843,2	K562	blood:

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10861371	1.00[CHB][hapmap]
rs10861388	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10861396	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10861400	1.00[CHB][hapmap]
rs10861407	1.00[CHB][hapmap]
rs10861409	1.00[CHB][hapmap]
rs11112434	1.00[CHB][hapmap]
rs11112461	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112465	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112467	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112468	0.93[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112475	1.00[CHB][hapmap]
rs11513891	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11519725	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11613789	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1196742	1.00[ASN][1000 genomes]
rs1196745	1.00[ASN][1000 genomes]
rs1196748	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196749	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196753	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196754	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196756	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196759	1.00[ASN][1000 genomes]
rs1196760	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196765	1.00[ASN][1000 genomes]
rs1196777	1.00[CHB][hapmap]
rs1196793	1.00[CHB][hapmap]
rs1196805	1.00[ASN][1000 genomes]
rs1196806	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196807	1.00[ASN][1000 genomes]
rs1196808	1.00[ASN][1000 genomes]
rs1196813	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196817	1.00[CHB][hapmap]
rs1196818	1.00[CHB][hapmap]
rs1196819	1.00[CHB][hapmap]
rs1196852	1.00[CHB][hapmap]
rs1196853	1.00[ASN][1000 genomes]
rs1196857	1.00[ASN][1000 genomes]
rs1196859	1.00[ASN][1000 genomes]
rs1196861	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196862	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196864	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196871	1.00[ASN][1000 genomes]
rs1196874	1.00[ASN][1000 genomes]
rs1206559	1.00[ASN][1000 genomes]
rs1211276	1.00[CHB][hapmap]
rs12822081	1.00[CHB][hapmap]
rs12822314	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12827086	0.91[EUR][1000 genomes]
rs12828874	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1663564	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2440715	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2440718	1.00[ASN][1000 genomes]
rs2464173	1.00[ASN][1000 genomes]
rs2888846	1.00[CHB][hapmap]
rs35407439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35561158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299225	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7302174	1.00[CHB][hapmap]
rs7303242	0.93[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303307	0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7959385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7972676	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972982	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs935240	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs935241	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs935242	1.00[ASN][1000 genomes]
rs935244	1.00[CHB][hapmap]
rs9645791	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv516472	chr12:105712603-105717598	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105709400-105717200	Enhancers	Fetal Intestine Small	intestine
2	chr12:105711000-105716800	Enhancers	Liver	Liver
3	chr12:105712200-105716800	Enhancers	Fetal Intestine Large	intestine
4	chr12:105712400-105720000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:105712600-105717800	Weak transcription	NHLF	lung
6	chr12:105712800-105719000	Weak transcription	NH-A	brain
7	chr12:105713400-105724000	Weak transcription	Pancreas	Pancrea
8	chr12:105713800-105720400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:105713800-105723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:105714000-105716800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:105714600-105720200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:105714600-105724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:105715200-105716800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:105715200-105717000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:105715200-105718000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:105715600-105717600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:105715800-105719000	Enhancers	HSMM	muscle
18	chr12:105715800-105723800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:105716000-105717200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr12:105716000-105723800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:105716200-105717600	Weak transcription	Stomach Mucosa	stomach
22	chr12:105716200-105718000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:105716200-105720400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:105716400-105720400	Weak transcription	A549	lung
25	chr12:105716400-105723800	Weak transcription	HSMMtube	muscle
26	chr12:105716600-105716800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:105716600-105717200	Flanking Active TSS	NHDF-Ad	bronchial
28	chr12:105716600-105717800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:105716600-105720600	Weak transcription	Osteobl	bone
30	chr12:105716600-105723600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:105716600-105723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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