Variant report

Variant	rs17031648
Chromosome Location	chr1:114084105-114084106
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114082118..114084710-chr1:114087135..114089127,2	MCF-7	breast:

Extended variants
information (count: 32 )
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	0.84[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];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[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]
rs17031640	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]
rs17031645	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	0.84[EUR][1000 genomes]
rs56092022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6537788	0.87[CEU][hapmap]
rs6663791	0.84[EUR][1000 genomes]
rs6671518	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6694929	0.91[MKK][hapmap]
rs6696459	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7514186	1.00[CEU][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7528311	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7533429	0.87[CEU][hapmap]
rs7545980	1.00[LWK][hapmap];0.91[MKK][hapmap]
rs7553181	0.84[EUR][1000 genomes]
rs7554422	1.00[LWK][hapmap];0.91[MKK][hapmap]
rs7555259	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][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	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
2	nsv946153	chr1:114080236-114088844	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114072200-114095800	Weak transcription	Aorta	Aorta
2	chr1:114077800-114084400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:114077800-114084400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:114077800-114084400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:114078000-114090000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:114078600-114084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:114078600-114084600	Weak transcription	HSMMtube	muscle
8	chr1:114079400-114084400	Weak transcription	NH-A	brain
9	chr1:114080000-114084400	Weak transcription	NHLF	lung
10	chr1:114080600-114088600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:114081400-114084800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:114081600-114084200	Weak transcription	NHEK	skin
13	chr1:114081600-114084400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:114081600-114084400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:114081600-114084800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:114082400-114088400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:114082600-114084800	Enhancers	Fetal Intestine Large	intestine
18	chr1:114082600-114084800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:114082600-114100400	Weak transcription	Fetal Kidney	kidney
20	chr1:114082800-114084600	Enhancers	HepG2	liver
21	chr1:114082800-114085000	Enhancers	Stomach Mucosa	stomach
22	chr1:114082800-114085600	Enhancers	HMEC	breast
23	chr1:114083000-114085000	Enhancers	Fetal Intestine Small	intestine
24	chr1:114083200-114084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:114083200-114085000	Enhancers	Osteobl	bone
26	chr1:114083200-114085600	Enhancers	NHDF-Ad	bronchial
27	chr1:114083200-114099800	Weak transcription	Pancreas	Pancrea
28	chr1:114083400-114095200	Weak transcription	Liver	Liver
29	chr1:114083400-114100000	Weak transcription	Ovary	ovary
30	chr1:114083400-114110000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:114083600-114085600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:114083800-114084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:114083800-114085400	Enhancers	A549	lung
34	chr1:114084000-114092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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