Variant report

Variant	rs952303
Chromosome Location	chr5:36299709-36299710
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	chr5:36297689..36300593-chr5:36309430..36312413,2	K562	blood:
2	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	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12516393	0.84[EUR][1000 genomes]
rs1392454	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1392456	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1827198	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28792437	0.88[EUR][1000 genomes]
rs4637575	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72744600	0.88[EUR][1000 genomes]
rs884692	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs884694	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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990057	1.00[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36297800-36300200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:36298000-36300000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:36298000-36300000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:36298400-36300200	Enhancers	NHDF-Ad	bronchial
5	chr5:36298400-36300400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:36298800-36300000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:36298800-36300000	Weak transcription	Brain Substantia Nigra	brain
8	chr5:36299000-36300000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:36299000-36300000	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:36299000-36300200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:36299000-36300400	Weak transcription	Hela-S3	cervix
12	chr5:36299000-36300600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:36299000-36300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:36299200-36300000	Weak transcription	Aorta	Aorta
15	chr5:36299200-36300000	Enhancers	Liver	Liver
16	chr5:36299200-36300200	Weak transcription	Adipose Nuclei	Adipose
17	chr5:36299200-36300200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:36299200-36300400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:36299200-36300400	Weak transcription	HSMM	muscle
20	chr5:36299200-36300400	Weak transcription	HSMMtube	muscle
21	chr5:36299200-36302400	Weak transcription	Placenta	Placenta
22	chr5:36299200-36302600	Active TSS	Brain Anterior Caudate	brain
23	chr5:36299400-36299800	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:36299600-36300000	Weak transcription	Osteobl	bone

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