Variant report

Variant	rs2529423
Chromosome Location	chr7:50712759-50712760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1468449	0.92[CEU][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2190497	0.92[CEU][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs2237449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237461	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529393	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2529419	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529422	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529424	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2715096	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715109	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715117	0.83[CEU][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes]
rs2715127	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715143	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6974769	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
2	chr7:50695000-50720600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:50695600-50716000	Weak transcription	Fetal Stomach	stomach
4	chr7:50697600-50716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:50697800-50716800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:50699600-50720400	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:50700600-50722000	Weak transcription	Aorta	Aorta
8	chr7:50701000-50719400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:50701000-50720400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:50701000-50733600	Weak transcription	A549	lung
11	chr7:50701200-50717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:50701200-50728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:50701200-50731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:50701200-50733600	Weak transcription	K562	blood
15	chr7:50701400-50716400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:50701400-50729000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:50705000-50713000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:50705800-50724200	Weak transcription	NH-A	brain
19	chr7:50706000-50717200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:50706400-50720400	Weak transcription	NHDF-Ad	bronchial
21	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:50706600-50719200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:50706800-50724600	Weak transcription	Fetal Lung	lung
24	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:50707800-50727600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:50708200-50729400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:50708600-50715200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:50709200-50727400	Weak transcription	Fetal Intestine Small	intestine
29	chr7:50709600-50715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:50709600-50716600	Weak transcription	Gastric	stomach
31	chr7:50709600-50717000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:50709600-50717000	Weak transcription	HSMM	muscle
33	chr7:50709600-50717400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:50709600-50720400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:50709800-50714400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:50709800-50717200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:50709800-50720800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:50709800-50720800	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:50710000-50714400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:50710000-50714400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:50710000-50719000	Weak transcription	HSMMtube	muscle
42	chr7:50710000-50720200	Weak transcription	Lung	lung
43	chr7:50710000-50720600	Weak transcription	Adipose Nuclei	Adipose
44	chr7:50710000-50721800	Weak transcription	Esophagus	oesophagus
45	chr7:50710000-50733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:50710200-50713200	Enhancers	Brain Substantia Nigra	brain
49	chr7:50710200-50716200	Weak transcription	Brain Angular Gyrus	brain
50	chr7:50710200-50716200	Weak transcription	Right Ventricle	heart

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