Variant report

Variant	rs7709999
Chromosome Location	chr5:111972682-111972683
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111972172..111973807-chr5:111975493..111977532,2	MCF-7	breast:
2	chr5:111962584..111966606-chr5:111971212..111973885,4	MCF-7	breast:
3	chr5:111970303..111973081-chr5:179124431..179126220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127022	Chromatin interaction
ENSG00000250358	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10057885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10063954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10070859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13436554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2165494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2416292	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2900064	0.97[AFR][1000 genomes]
rs4355511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56367966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72791191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72791193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72791195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894147	0.86[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];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9326859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9326860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111964800-111978200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:111968200-111973600	Enhancers	Liver	Liver
3	chr5:111968800-111973200	Enhancers	Fetal Intestine Small	intestine
4	chr5:111970000-111973400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:111970400-111973200	Enhancers	Fetal Intestine Large	intestine
6	chr5:111970400-111974200	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:111970400-111974400	Enhancers	Brain Angular Gyrus	brain
8	chr5:111970400-111974600	Enhancers	Brain Hippocampus Middle	brain
9	chr5:111970600-111973200	Enhancers	Right Atrium	heart
10	chr5:111970600-111973400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:111970600-111973800	Enhancers	Psoas Muscle	Psoas
12	chr5:111970800-111973000	Enhancers	Fetal Heart	heart
13	chr5:111971000-111973400	Enhancers	Fetal Kidney	kidney
14	chr5:111971000-111973600	Weak transcription	Lung	lung
15	chr5:111971000-111973800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:111971200-111973200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:111971600-111974400	Enhancers	Brain Anterior Caudate	brain
18	chr5:111971800-111973200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:111971800-111973200	Enhancers	Left Ventricle	heart
20	chr5:111971800-111973400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:111971800-111973800	Enhancers	Fetal Muscle Leg	muscle
22	chr5:111971800-111973800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:111971800-111974200	Enhancers	Brain Substantia Nigra	brain
24	chr5:111972000-111973400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr5:111972200-111973400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:111972200-111973600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:111972400-111973000	Enhancers	Fetal Muscle Trunk	muscle
28	chr5:111972400-111973000	Enhancers	Stomach Smooth Muscle	stomach
29	chr5:111972400-111975800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:111972400-111976600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:111972600-111973200	Enhancers	HSMMtube	muscle
32	chr5:111972600-111973400	Enhancers	Adipose Nuclei	Adipose
33	chr5:111972600-111978400	Weak transcription	Pancreas	Pancrea

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