Variant report

Variant	rs2523193
Chromosome Location	chr7:79796275-79796276
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	chr7:79787757..79790479-chr7:79794943..79796781,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10252512	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12706672	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17147931	1.00[CEU][hapmap]
rs2428468	0.95[EUR][1000 genomes]
rs2428470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428471	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523191	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523195	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523196	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714455	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714456	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714466	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489243	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4552840	0.87[EUR][1000 genomes]
rs60873462	0.80[EUR][1000 genomes]
rs6467043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs6969850	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs719057	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807610	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79781200-79803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:79781600-79797000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:79783800-79806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:79786200-79796600	Weak transcription	NHEK	skin
5	chr7:79786200-79799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:79788600-79799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:79788600-79799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:79788800-79796400	Weak transcription	Brain Anterior Caudate	brain
9	chr7:79789400-79814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:79791200-79799400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:79791600-79801400	Weak transcription	Ovary	ovary
12	chr7:79791800-79799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:79792200-79799000	Weak transcription	Gastric	stomach
14	chr7:79792800-79809000	Weak transcription	Fetal Kidney	kidney
15	chr7:79793200-79799600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:79793200-79802000	Weak transcription	Brain Angular Gyrus	brain
17	chr7:79794200-79796400	Enhancers	Brain Hippocampus Middle	brain
18	chr7:79794200-79796600	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:79794200-79796600	Enhancers	Brain Substantia Nigra	brain
20	chr7:79794400-79796800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:79794400-79796800	Enhancers	Fetal Lung	lung
22	chr7:79794400-79802200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:79794600-79796400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:79794800-79796400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:79795000-79799200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:79795200-79797600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:79795400-79816000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:79795600-79797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:79795600-79809000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:79796000-79796600	Enhancers	Adipose Nuclei	Adipose
31	chr7:79796200-79796400	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:79796200-79796800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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