Variant report

Variant	rs12535478
Chromosome Location	chr7:121440257-121440258
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	chr7:120971216..120973778-chr7:121440199..121441897,2	K562	blood:

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

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

rs_ID	r²[population]
rs1014171	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10238474	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10238868	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11766572	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766594	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766616	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11768615	0.82[EUR][1000 genomes]
rs11983105	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12111892	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12540905	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13231796	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13243402	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2052131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052132	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052134	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2109764	0.94[EUR][1000 genomes]
rs2402589	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731038	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs740961	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs740962	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121433800-121442400	Enhancers	HMEC	breast
2	chr7:121435800-121440400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:121436000-121440800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:121436000-121441000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:121436200-121440600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:121436400-121444000	Enhancers	NHEK	skin
7	chr7:121436600-121442200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:121438800-121441400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:121439000-121441600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:121439200-121444000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:121439600-121440400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:121439600-121442800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:121439600-121443800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:121439800-121441000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:121439800-121441000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:121440000-121441000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:121440000-121442600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:121440000-121442800	Weak transcription	Fetal Brain Female	brain
19	chr7:121440200-121440600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:121440200-121443800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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