Variant report

Variant	rs7311514
Chromosome Location	chr12:83530657-83530658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83485429..83487033-chr12:83528261..83531260,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10732679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10735463	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1517817	0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1517821	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517822	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1543170	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1543171	0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1949427	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2056218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292823	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292827	0.81[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3168365	0.82[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4882547	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132909	0.83[ASN][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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:83516000-83533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:83516400-83538800	Weak transcription	Fetal Brain Male	brain
3	chr12:83516600-83532600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:83516600-83533400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:83522200-83533800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:83522400-83532200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:83522600-83533200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:83524400-83533800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:83524600-83533600	Weak transcription	Esophagus	oesophagus
10	chr12:83525200-83536600	Weak transcription	Fetal Heart	heart
11	chr12:83526400-83533200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:83526600-83530800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:83526600-83533000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:83526600-83537600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:83526800-83533600	Weak transcription	Fetal Stomach	stomach
16	chr12:83527000-83539200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:83527200-83533200	Weak transcription	Fetal Lung	lung
18	chr12:83527400-83533400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:83529200-83532000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:83529800-83531200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:83530200-83531000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr12:83530400-83531000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:83530600-83532400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:83530600-83533200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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