Variant report

Variant	rs7658751
Chromosome Location	chr4:55885310-55885311
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	chr4:55882690..55885444-chr4:55890043..55891620,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10018070	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs13101523	0.81[CHB][hapmap]
rs13111963	0.85[EUR][1000 genomes]
rs13112551	0.85[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs13142103	0.86[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs13144875	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28744674	0.80[ASN][1000 genomes]
rs4259119	0.84[ASN][1000 genomes]
rs4333248	0.81[CHB][hapmap];0.92[CHD][hapmap]
rs4566712	0.82[ASN][1000 genomes]
rs4571397	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4582210	0.85[ASN][1000 genomes]
rs4596303	0.81[CHB][hapmap]
rs4864529	0.84[ASN][1000 genomes]
rs4864530	0.83[ASN][1000 genomes]
rs4864949	0.86[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs6554225	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6554226	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6554228	0.80[ASN][1000 genomes]
rs6554229	0.80[ASN][1000 genomes]
rs66459610	0.84[ASN][1000 genomes]
rs66506770	0.84[ASN][1000 genomes]
rs6816847	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6844468	0.87[ASN][1000 genomes]
rs7661259	0.83[ASN][1000 genomes]
rs7677709	0.82[ASN][1000 genomes]
rs7679094	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv432603	chr4:55877236-55970782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7658751	AASDH	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55883400-55886200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:55883800-55885400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:55884000-55891200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:55884200-55891000	Weak transcription	HMEC	breast
5	chr4:55884600-55885400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:55884600-55886000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:55884800-55887800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:55885000-55885400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:55885000-55885800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:55885000-55886000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:55885000-55886000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:55885000-55886400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:55885200-55885400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:55885200-55885600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:55885200-55885600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:55885200-55885600	Enhancers	NH-A	brain
17	chr4:55885200-55885800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:55885200-55885800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:55885200-55886000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:55885200-55887000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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