Variant report

Variant	rs17531148
Chromosome Location	chr7:121440519-121440520
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: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12706382	1.00[JPT][hapmap]
rs13308121	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34863408	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35002654	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35168178	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35330552	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6974265	1.00[JPT][hapmap]
rs73229107	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7784550	0.89[AMR][1000 genomes];0.95[EUR][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	chr7:121436000-121440800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:121436000-121441000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:121436200-121440600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:121436400-121444000	Enhancers	NHEK	skin
6	chr7:121436600-121442200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:121438800-121441400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:121439000-121441600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:121439200-121444000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:121439600-121442800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:121439600-121443800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:121439800-121441000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:121439800-121441000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:121440000-121441000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:121440000-121442600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:121440000-121442800	Weak transcription	Fetal Brain Female	brain
17	chr7:121440200-121440600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:121440200-121443800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:121440400-121440800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:121440400-121441000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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