Variant report

Variant	rs894147
Chromosome Location	chr5:111971944-111971945
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	chr5:111962584..111966606-chr5:111971212..111973885,4	MCF-7	breast:
2	chr5:111970303..111973081-chr5:179124431..179126220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250358	Chromatin interaction
ENSG00000127022	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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10063954	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10070859	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13436554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2165494	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2416292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2900064	0.91[AFR][1000 genomes]
rs4355511	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56367966	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72791191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72791193	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72791195	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709999	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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9326860	0.94[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:31 , 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	chr5:111970600-111972400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:111970600-111973200	Enhancers	Right Atrium	heart
11	chr5:111970600-111973400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:111970600-111973800	Enhancers	Psoas Muscle	Psoas
13	chr5:111970800-111973000	Enhancers	Fetal Heart	heart
14	chr5:111971000-111972000	Weak transcription	Right Ventricle	heart
15	chr5:111971000-111972600	Enhancers	Pancreas	Pancrea
16	chr5:111971000-111973400	Enhancers	Fetal Kidney	kidney
17	chr5:111971000-111973600	Weak transcription	Lung	lung
18	chr5:111971000-111973800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:111971200-111972600	Weak transcription	HSMMtube	muscle
20	chr5:111971200-111973200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:111971600-111972200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:111971600-111974400	Enhancers	Brain Anterior Caudate	brain
23	chr5:111971800-111972000	Enhancers	Esophagus	oesophagus
24	chr5:111971800-111972000	Enhancers	Fetal Lung	lung
25	chr5:111971800-111972200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr5:111971800-111973200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:111971800-111973200	Enhancers	Left Ventricle	heart
28	chr5:111971800-111973400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr5:111971800-111973800	Enhancers	Fetal Muscle Leg	muscle
30	chr5:111971800-111973800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:111971800-111974200	Enhancers	Brain Substantia Nigra	brain

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