Variant report

Variant	rs3100196
Chromosome Location	chr10:4854229-4854230
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: 38 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10904362	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs10904367	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs10904368	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11252804	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11252805	0.85[CHB][hapmap]
rs1869218	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs1901644	0.88[JPT][hapmap]
rs1993181	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2167703	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2397984	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2397989	0.81[YRI][hapmap]
rs2924265	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2924267	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2924284	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961568	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2961571	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2961576	0.85[ASW][hapmap];0.88[JPT][hapmap]
rs2961578	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2961586	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2961591	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2961592	0.84[CHB][hapmap]
rs2961605	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961619	0.84[ASN][1000 genomes]
rs2961621	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3100197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110951	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4266965	0.85[CHB][hapmap]
rs4880693	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs4880696	0.82[CHB][hapmap]
rs4880698	0.82[JPT][hapmap]
rs4881367	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7067785	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs7089338	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7894644	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs7900816	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7910207	0.85[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3100196	ITIH2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

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

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