Variant report

Variant	rs17031640
Chromosome Location	chr1:114080011-114080012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114078894..114080860-chr1:114093812..114095778,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11102629	0.87[CEU][hapmap]
rs11102646	0.87[CEU][hapmap]
rs11577235	0.93[EUR][1000 genomes]
rs11578447	0.87[CEU][hapmap]
rs11579386	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12117465	0.87[CEU][hapmap]
rs12130729	0.87[CEU][hapmap]
rs12131115	0.87[CEU][hapmap]
rs12144505	0.87[CEU][hapmap]
rs12145834	0.85[CEU][hapmap]
rs17031645	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17031648	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17448063	1.00[CEU][hapmap]
rs17461007	0.87[CEU][hapmap]
rs17461231	0.87[CEU][hapmap]
rs17507884	0.87[CEU][hapmap]
rs2359410	0.93[EUR][1000 genomes]
rs56092022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6537788	0.87[CEU][hapmap]
rs6663791	0.93[EUR][1000 genomes]
rs6671518	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6694929	0.97[MKK][hapmap]
rs6696459	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7514186	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7528311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7533429	0.87[CEU][hapmap]
rs7545980	1.00[LWK][hapmap];0.97[MKK][hapmap]
rs7553181	0.93[EUR][1000 genomes]
rs7554422	1.00[LWK][hapmap];0.97[MKK][hapmap]
rs7555259	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv437013	chr1:114065955-114129092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 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	chr1:114072200-114095800	Weak transcription	Aorta	Aorta
2	chr1:114077200-114081800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:114077200-114082600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:114077200-114082800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:114077400-114080400	Enhancers	NHDF-Ad	bronchial
6	chr1:114077600-114083000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:114077800-114080800	Weak transcription	Psoas Muscle	Psoas
8	chr1:114077800-114082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:114077800-114082600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:114077800-114083000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:114077800-114084400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:114077800-114084400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:114077800-114084400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:114078000-114090000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:114078600-114084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:114078600-114084600	Weak transcription	HSMMtube	muscle
17	chr1:114078800-114080600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:114079200-114083200	Weak transcription	Osteobl	bone
19	chr1:114079400-114080800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:114079400-114080800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:114079400-114084400	Weak transcription	NH-A	brain
22	chr1:114079800-114080200	Enhancers	Left Ventricle	heart
23	chr1:114079800-114080200	Enhancers	Ovary	ovary
24	chr1:114079800-114080200	Enhancers	Pancreas	Pancrea
25	chr1:114079800-114080200	ZNF genes & repeats	A549	lung
26	chr1:114079800-114080400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:114080000-114080200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:114080000-114080200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:114080000-114080200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:114080000-114081200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:114080000-114084400	Weak transcription	NHLF	lung

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