Variant report

Variant	rs7981303
Chromosome Location	chr13:48479590-48479591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11617530	0.87[ASN][1000 genomes]
rs11620507	0.80[ASN][1000 genomes]
rs1324801	0.83[ASN][1000 genomes]
rs1324802	0.83[ASN][1000 genomes]
rs1408618	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1555723	0.83[ASN][1000 genomes]
rs1555724	0.83[ASN][1000 genomes]
rs1924811	0.82[ASN][1000 genomes]
rs2038789	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2147502	0.85[ASN][1000 genomes]
rs2274189	0.88[ASN][1000 genomes]
rs2406690	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28874956	0.84[ASN][1000 genomes]
rs4142533	0.85[ASN][1000 genomes]
rs4369555	0.96[CHB][hapmap]
rs4508328	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4558305	0.83[EUR][1000 genomes]
rs4941616	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942712	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4942713	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942715	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4942717	0.88[ASN][1000 genomes]
rs4942718	0.88[ASN][1000 genomes]
rs61972224	0.88[ASN][1000 genomes]
rs73187725	0.92[ASN][1000 genomes]
rs7321745	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7329550	0.80[ASN][1000 genomes]
rs7330169	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7337764	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7998090	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526406	0.86[ASN][1000 genomes]
rs9526407	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs9526410	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9526411	0.86[ASN][1000 genomes]
rs9526414	0.88[ASN][1000 genomes]
rs9526416	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534856	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs9534857	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs9534858	0.87[ASN][1000 genomes]
rs9534859	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9534860	0.87[ASN][1000 genomes]
rs9534861	0.86[ASN][1000 genomes]
rs9534862	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534863	0.88[ASN][1000 genomes]
rs9534864	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9534867	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9534888	0.95[CHB][hapmap]
rs9534944	0.80[JPT][hapmap]
rs9534947	0.82[CHB][hapmap]
rs9562775	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9567941	0.83[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	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1803690	chr13:48470681-48508091	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48451000-48480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:48465000-48484000	Weak transcription	Primary T cells from cord blood	blood
3	chr13:48468600-48485600	Weak transcription	Gastric	stomach
4	chr13:48468800-48479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:48468800-48482400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:48472000-48482200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:48472200-48482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:48472200-48482400	Weak transcription	NHEK	skin
9	chr13:48472200-48491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr13:48476000-48479800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:48477000-48506400	Weak transcription	Psoas Muscle	Psoas
12	chr13:48478000-48479600	Enhancers	HUVEC	blood vessel
13	chr13:48478200-48482600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr13:48478600-48490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:48478800-48491000	Weak transcription	Adipose Nuclei	Adipose
16	chr13:48478800-48491800	Weak transcription	Left Ventricle	heart
17	chr13:48478800-48492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:48479400-48488400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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