Variant report

Variant	rs12360475
Chromosome Location	chr10:4854133-4854134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4852442..4855384-chr10:4879168..4880754,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11252758	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11252759	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12569410	0.89[CHB][hapmap];1.00[AFR][1000 genomes]
rs12569715	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs12569839	1.00[AFR][1000 genomes]
rs12570011	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs12570641	1.00[AFR][1000 genomes]
rs12571065	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs12571192	1.00[AFR][1000 genomes]
rs12571212	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs12571543	0.91[CHB][hapmap]
rs12571691	1.00[AFR][1000 genomes]
rs12571940	1.00[AFR][1000 genomes]
rs12571967	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs12571976	1.00[AFR][1000 genomes]
rs12571980	1.00[AFR][1000 genomes]
rs12572008	1.00[AFR][1000 genomes]
rs12572181	1.00[AFR][1000 genomes]
rs12572395	1.00[AFR][1000 genomes]
rs12572449	1.00[AFR][1000 genomes]
rs12573010	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs12573159	1.00[AFR][1000 genomes]
rs12573197	1.00[AFR][1000 genomes]
rs12573397	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs12573398	1.00[AFR][1000 genomes]
rs12573501	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs12573669	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs12573690	1.00[AFR][1000 genomes]
rs12573808	0.91[CHB][hapmap]
rs17133680	1.00[AFR][1000 genomes]
rs17133691	0.88[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133693	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133697	0.86[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133705	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133707	1.00[AFR][1000 genomes]
rs17133710	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133724	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133747	0.88[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133748	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133751	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133752	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133753	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133759	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133762	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133779	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133780	1.00[AFR][1000 genomes]
rs17133791	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133794	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs17133796	1.00[AFR][1000 genomes]
rs17301743	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1869214	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs1869215	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs1869216	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs1869217	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs1869219	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs1869220	1.00[AFR][1000 genomes]
rs1901642	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs1993182	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs2278869	1.00[AFR][1000 genomes]
rs2290348	1.00[AFR][1000 genomes]
rs2290349	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs2290350	1.00[AFR][1000 genomes]
rs2397982	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs2397983	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs2397985	1.00[AFR][1000 genomes]
rs2397986	1.00[AFR][1000 genomes]
rs2961570	0.81[CHB][hapmap]
rs34882719	1.00[AFR][1000 genomes]
rs35340010	1.00[AFR][1000 genomes]
rs3750737	1.00[AFR][1000 genomes]
rs3750738	1.00[AFR][1000 genomes]
rs3750739	1.00[AFR][1000 genomes]
rs3750740	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs41289263	1.00[AFR][1000 genomes]
rs4339941	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs4397733	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs4480435	0.91[CHB][hapmap];1.00[AFR][1000 genomes]
rs4518987	1.00[AFR][1000 genomes]
rs4593903	1.00[AFR][1000 genomes]
rs56767310	0.97[ASN][1000 genomes]
rs7082529	1.00[AFR][1000 genomes]
rs7086737	1.00[AFR][1000 genomes]
rs7912440	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4846000-4854200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:4851000-4854600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:4851000-4854800	Weak transcription	NHEK	skin
4	chr10:4852200-4854400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:4852600-4854200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:4852800-4854200	Weak transcription	NH-A	brain
7	chr10:4852800-4855000	Weak transcription	HUVEC	blood vessel
8	chr10:4853200-4855600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:4853200-4857800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:4853400-4855600	Enhancers	HMEC	breast
11	chr10:4853600-4854200	Enhancers	A549	lung
12	chr10:4853600-4854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:4853600-4855600	Enhancers	HSMM	muscle
14	chr10:4853800-4854200	Flanking Active TSS	NHDF-Ad	bronchial
15	chr10:4853800-4855400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:4853800-4855600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:4853800-4855600	Enhancers	NHLF	lung
18	chr10:4853800-4855800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr10:4854000-4854200	Enhancers	Osteobl	bone
20	chr10:4854000-4854400	Enhancers	HSMMtube	muscle
21	chr10:4854000-4854800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr10:4854000-4855000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:4854000-4855400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:4854000-4855600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:4854000-4855800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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