Variant report

Variant	rs11117756
Chromosome Location	chr1:217215958-217215959
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	chr1:217215201..217218103-chr1:217218640..217221582,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1004626	0.92[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863289	0.96[CEU][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11807917	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416530	0.99[ASN][1000 genomes]
rs1416531	0.96[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1416535	0.81[YRI][hapmap]
rs17636912	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4085455	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4846804	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4846806	0.83[YRI][hapmap]
rs61816725	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61816726	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6688120	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs6694626	0.94[CEU][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7516529	0.81[YRI][hapmap]
rs7523193	0.86[YRI][hapmap]
rs7538474	0.96[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs950581	0.82[YRI][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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:217204800-217226000	Weak transcription	Fetal Kidney	kidney
2	chr1:217212000-217223200	Weak transcription	Gastric	stomach
3	chr1:217212600-217223000	Weak transcription	Pancreas	Pancrea
4	chr1:217212600-217224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:217213400-217240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:217214200-217216200	Enhancers	Fetal Heart	heart
7	chr1:217214600-217216800	Enhancers	Fetal Muscle Leg	muscle
8	chr1:217214800-217216800	Enhancers	Brain Hippocampus Middle	brain
9	chr1:217215000-217216400	Enhancers	Fetal Brain Male	brain
10	chr1:217215200-217216600	Enhancers	Right Atrium	heart
11	chr1:217215400-217216400	Enhancers	Fetal Brain Female	brain
12	chr1:217215400-217216800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr1:217215400-217217000	Enhancers	Brain Anterior Caudate	brain
14	chr1:217215400-217226600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:217215600-217216000	Enhancers	Psoas Muscle	Psoas
16	chr1:217215600-217216400	Enhancers	Fetal Lung	lung
17	chr1:217215600-217216400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:217215600-217216600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:217215600-217216600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:217215600-217216600	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:217215600-217216800	Enhancers	Brain Substantia Nigra	brain
22	chr1:217215600-217217000	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:217215800-217216000	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:217215800-217216000	Enhancers	Left Ventricle	heart
25	chr1:217215800-217216400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:217215800-217216400	Enhancers	Fetal Stomach	stomach
27	chr1:217215800-217216600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:217215800-217216600	Enhancers	HSMMtube	muscle
29	chr1:217215800-217216800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:217215800-217216800	Enhancers	Brain Angular Gyrus	brain
31	chr1:217215800-217217000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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