Variant report

Variant	rs884694
Chromosome Location	chr5:36301420-36301421
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36241131..36242804-chr5:36299171..36301601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152620	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10042551	0.95[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs12516393	0.83[EUR][1000 genomes]
rs1392454	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1392456	0.99[EUR][1000 genomes]
rs1827198	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28792437	0.88[EUR][1000 genomes]
rs4637575	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72744600	0.88[EUR][1000 genomes]
rs884692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952303	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs958929	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs990057	0.95[CEU][hapmap];0.88[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	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv881598	chr5:36248752-36382802	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36299200-36302400	Weak transcription	Placenta	Placenta
2	chr5:36299200-36302600	Active TSS	Brain Anterior Caudate	brain
3	chr5:36300000-36302000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:36300000-36302000	Flanking Active TSS	Liver	Liver
5	chr5:36300000-36302200	Active TSS	Brain Hippocampus Middle	brain
6	chr5:36300000-36302600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:36300000-36302600	Active TSS	Brain Substantia Nigra	brain
8	chr5:36300000-36303000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:36300000-36303000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:36300000-36303000	Active TSS	Aorta	Aorta
11	chr5:36300200-36302000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:36300200-36302400	Active TSS	Brain Cingulate Gyrus	brain
13	chr5:36300200-36302600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:36300200-36302600	Active TSS	Right Atrium	heart
15	chr5:36300200-36302800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:36300200-36302800	Active TSS	Brain Angular Gyrus	brain
17	chr5:36300400-36301600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr5:36300400-36301600	Flanking Active TSS	HSMMtube	muscle
19	chr5:36300400-36301800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:36300400-36301800	Enhancers	Fetal Muscle Leg	muscle
21	chr5:36300400-36302000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:36300400-36302000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:36300400-36302000	Enhancers	HSMM	muscle
24	chr5:36300400-36302000	Enhancers	NHLF	lung
25	chr5:36300400-36302200	Enhancers	Fetal Stomach	stomach
26	chr5:36300400-36302800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:36300400-36302800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:36300600-36302000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:36300600-36302000	Enhancers	NH-A	brain
30	chr5:36300800-36302800	Flanking Active TSS	Osteobl	bone
31	chr5:36301000-36301600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:36301000-36301600	Flanking Active TSS	Ovary	ovary
33	chr5:36301000-36301800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr5:36301200-36301600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:36301200-36301600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr5:36301200-36301600	Flanking Active TSS	Fetal Kidney	kidney
37	chr5:36301200-36301600	Enhancers	Gastric	stomach
38	chr5:36301200-36301600	Flanking Active TSS	Left Ventricle	heart
39	chr5:36301200-36301600	Enhancers	Lung	lung
40	chr5:36301200-36301800	Enhancers	Fetal Muscle Trunk	muscle
41	chr5:36301200-36301800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr5:36301200-36301800	Flanking Active TSS	NHDF-Ad	bronchial
43	chr5:36301200-36302000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:36301200-36302000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr5:36301200-36302600	Enhancers	Pancreas	Pancrea
46	chr5:36301400-36301600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:36301400-36301600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr5:36301400-36301600	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr5:36301400-36301600	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr5:36301400-36301600	Flanking Active TSS	Psoas Muscle	Psoas

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