Variant report

Variant	rs2052134
Chromosome Location	chr7:121441640-121441641
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	chr7:120971216..120973778-chr7:121440199..121441897,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1007522	0.81[JPT][hapmap]
rs1007784	0.82[JPT][hapmap]
rs1014171	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10238474	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10238868	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10246475	0.82[AMR][1000 genomes]
rs10256242	0.84[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs11766572	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766594	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766616	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768615	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11978007	0.86[JPT][hapmap]
rs11983105	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1206473	0.81[JPT][hapmap]
rs1206477	0.82[JPT][hapmap]
rs1206481	0.82[JPT][hapmap]
rs1206483	0.82[JPT][hapmap]
rs12111892	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535478	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12540905	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13231796	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13243402	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1916880	0.86[JPT][hapmap]
rs1916886	0.86[JPT][hapmap]
rs1916888	0.86[JPT][hapmap]
rs1916889	0.86[JPT][hapmap]
rs2024249	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2052131	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052132	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2109764	0.97[EUR][1000 genomes]
rs2402589	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402590	0.82[AMR][1000 genomes]
rs3757549	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs3757550	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs4731038	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740961	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740962	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs740963	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs740964	0.81[JPT][hapmap]
rs7797305	0.84[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7802916	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7809971	0.81[AMR][1000 genomes]
rs7811200	0.85[AMR][1000 genomes]
rs960539	0.81[CHB][hapmap];0.82[JPT][hapmap]

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	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121433800-121442400	Enhancers	HMEC	breast
2	chr7:121436400-121444000	Enhancers	NHEK	skin
3	chr7:121436600-121442200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:121439200-121444000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:121439600-121442800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:121439600-121443800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:121440000-121442600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:121440000-121442800	Weak transcription	Fetal Brain Female	brain
9	chr7:121440200-121443800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:121440600-121450400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:121440800-121441800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:121441600-121442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:121441600-121443200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:121441600-121443400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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