Variant report

Variant	rs2949647
Chromosome Location	chr4:107288036-107288037
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11938792	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2691805	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2949626	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2949645	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2949646	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3018059	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3018060	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3018061	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018064	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3018065	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018066	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs3109959	1.00[CEU][hapmap];0.84[MEX][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs727618	0.88[CEU][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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1008963	chr4:107282656-107384924	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107270800-107290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:107285200-107288600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:107285400-107288400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:107285400-107288400	Enhancers	HSMM	muscle
5	chr4:107285800-107288200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:107286200-107288800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:107287200-107290600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:107287400-107288600	Enhancers	NHDF-Ad	bronchial
9	chr4:107287400-107290600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:107287400-107290800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:107287600-107288800	Enhancers	NH-A	brain
12	chr4:107287600-107290600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:107287800-107290400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:107287800-107290400	Weak transcription	HUVEC	blood vessel
15	chr4:107287800-107290600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:107287800-107290600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:107287800-107290600	Weak transcription	Osteobl	bone
18	chr4:107287800-107290800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:107288000-107288400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:107288000-107288600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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