Variant report

Variant	rs9844950
Chromosome Location	chr3:100689310-100689311
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	chr3:100683906..100686775-chr3:100688307..100689935,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10049238	0.83[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1036468	1.00[JPT][hapmap]
rs10511180	0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs12330346	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1349198	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs1375510	1.00[JPT][hapmap]
rs1436939	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs1449306	0.82[EUR][1000 genomes]
rs1449307	0.82[EUR][1000 genomes]
rs1449308	0.87[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs1449309	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1449321	1.00[JPT][hapmap]
rs17338729	0.81[ASW][hapmap];1.00[JPT][hapmap]
rs17398137	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs1821795	1.00[JPT][hapmap]
rs2245370	1.00[JPT][hapmap]
rs2252229	1.00[JPT][hapmap]
rs2304513	0.81[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2576367	1.00[JPT][hapmap]
rs2576370	1.00[JPT][hapmap]
rs2576384	1.00[JPT][hapmap]
rs2576389	1.00[JPT][hapmap]
rs2576390	1.00[JPT][hapmap]
rs2595899	1.00[JPT][hapmap]
rs2713750	1.00[JPT][hapmap]
rs2713759	1.00[JPT][hapmap]
rs2713762	1.00[JPT][hapmap]
rs7355920	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749869	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs7609734	1.00[JPT][hapmap]
rs7646218	1.00[JPT][hapmap]
rs7647099	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs7651634	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs9653904	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs9822089	0.83[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9824648	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9825288	0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs9826284	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9827075	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs9827694	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9831620	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9841117	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843102	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9847485	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9849371	0.83[EUR][1000 genomes]
rs9852414	0.82[EUR][1000 genomes]
rs9853097	0.87[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs9860015	0.83[EUR][1000 genomes]
rs9860250	0.81[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs9862373	0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs9866199	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9881388	1.00[JPT][hapmap];0.81[EUR][1000 genomes]

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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100679200-100690200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:100682800-100691600	Weak transcription	Osteobl	bone
3	chr3:100683800-100691200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:100685200-100690800	Weak transcription	HSMM	muscle
5	chr3:100685800-100690800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:100686000-100691800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:100687800-100691000	Enhancers	Fetal Muscle Leg	muscle
8	chr3:100687800-100692600	Enhancers	Colon Smooth Muscle	Colon
9	chr3:100687800-100692600	Enhancers	Fetal Stomach	stomach
10	chr3:100688000-100690800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:100688400-100689600	Weak transcription	Ovary	ovary
12	chr3:100688400-100701800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:100688600-100689600	Weak transcription	Fetal Lung	lung
14	chr3:100688800-100690200	Weak transcription	NHDF-Ad	bronchial
15	chr3:100689000-100690200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:100689000-100690400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:100689000-100692200	Enhancers	HSMMtube	muscle
18	chr3:100689200-100689600	Enhancers	Stomach Smooth Muscle	stomach

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