Variant report

Variant	rs2523192
Chromosome Location	chr7:79794505-79794506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10230368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10257372	0.90[ASN][1000 genomes]
rs10272499	0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10277707	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12671775	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12706673	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1468242	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2428466	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2428467	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2523184	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2714457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2714460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512317	0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6945280	0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6956455	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808119	0.81[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79776200-79796200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:79781200-79803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:79781600-79795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:79781600-79797000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:79783800-79806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:79786200-79796600	Weak transcription	NHEK	skin
7	chr7:79786200-79799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:79788000-79795200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:79788600-79799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:79788600-79799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:79788800-79794600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:79788800-79796400	Weak transcription	Brain Anterior Caudate	brain
13	chr7:79789400-79814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:79791200-79799400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:79791600-79801400	Weak transcription	Ovary	ovary
16	chr7:79791800-79799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:79792200-79796000	Weak transcription	Adipose Nuclei	Adipose
18	chr7:79792200-79799000	Weak transcription	Gastric	stomach
19	chr7:79792400-79794600	Weak transcription	Fetal Brain Male	brain
20	chr7:79792800-79809000	Weak transcription	Fetal Kidney	kidney
21	chr7:79793000-79795200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:79793200-79799600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:79793200-79802000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:79794000-79794600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:79794000-79794800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:79794000-79795000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:79794200-79794600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:79794200-79794600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:79794200-79794600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr7:79794200-79794800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:79794200-79794800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr7:79794200-79794800	Enhancers	HSMMtube	muscle
33	chr7:79794200-79795000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:79794200-79795600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:79794200-79795600	Enhancers	Colon Smooth Muscle	Colon
36	chr7:79794200-79796400	Enhancers	Brain Hippocampus Middle	brain
37	chr7:79794200-79796600	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:79794200-79796600	Enhancers	Brain Substantia Nigra	brain
39	chr7:79794400-79794800	Enhancers	Fetal Heart	heart
40	chr7:79794400-79795400	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:79794400-79796800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr7:79794400-79796800	Enhancers	Fetal Lung	lung
43	chr7:79794400-79802200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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