Variant report

Variant	rs11117722
Chromosome Location	chr1:217076563-217076564
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	chr1:217065075..217066697-chr1:217076274..217078802,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10158424	0.92[EUR][1000 genomes]
rs1025652	1.00[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs1025653	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs11117719	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4348786	0.96[CEU][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes]
rs6681527	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6688971	0.91[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519967	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7524372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv873179	chr1:217056893-217112871	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv873180	chr1:217073060-217112871	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217062600-217078000	Weak transcription	Pancreas	Pancrea
2	chr1:217062800-217087800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:217072200-217082800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:217074400-217080000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:217074600-217078800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:217075200-217078800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:217075400-217076600	Enhancers	NHEK	skin
8	chr1:217075400-217077200	Enhancers	Brain Hippocampus Middle	brain
9	chr1:217075600-217077000	Enhancers	Fetal Intestine Small	intestine
10	chr1:217075800-217077200	Enhancers	Fetal Intestine Large	intestine
11	chr1:217075800-217077400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:217075800-217077400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:217075800-217077400	Enhancers	HSMM	muscle
14	chr1:217075800-217079000	Enhancers	HepG2	liver
15	chr1:217076000-217076600	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:217076000-217076600	Enhancers	Small Intestine	intestine
17	chr1:217076000-217076800	Enhancers	Brain Anterior Caudate	brain
18	chr1:217076000-217076800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:217076000-217076800	Enhancers	Brain Substantia Nigra	brain
20	chr1:217076000-217076800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:217076000-217077000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:217076000-217077000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:217076000-217077000	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:217076000-217077000	Enhancers	Right Ventricle	heart
25	chr1:217076000-217077200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:217076000-217077200	Enhancers	Brain Angular Gyrus	brain
27	chr1:217076000-217077200	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:217076000-217077200	Enhancers	HSMMtube	muscle
29	chr1:217076000-217077600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:217076000-217078200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:217076000-217078200	Enhancers	NH-A	brain
32	chr1:217076000-217078400	Enhancers	Fetal Lung	lung
33	chr1:217076000-217078400	Enhancers	Stomach Mucosa	stomach
34	chr1:217076000-217078600	Enhancers	Right Atrium	heart
35	chr1:217076000-217079000	Enhancers	Fetal Heart	heart
36	chr1:217076000-217079000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr1:217076000-217079400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:217076200-217076600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:217076200-217076800	Weak transcription	Gastric	stomach
40	chr1:217076200-217077000	Enhancers	Fetal Stomach	stomach
41	chr1:217076200-217077200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:217076400-217076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:217076400-217077200	Enhancers	Fetal Brain Male	brain
44	chr1:217076400-217077200	Weak transcription	Left Ventricle	heart
45	chr1:217076400-217077400	Flanking Active TSS	HMEC	breast
46	chr1:217076400-217078800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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