Variant report

Variant	rs11715606
Chromosome Location	chr3:51283069-51283070
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	chr3:51282663..51284761-chr3:51296334..51298569,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10433609	0.86[ASN][1000 genomes]
rs10446473	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11130283	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11130286	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11130290	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11706571	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11711643	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12715446	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13064149	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1318649	0.89[ASN][1000 genomes]
rs1480360	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1480362	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1480364	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1996331	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1996332	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2061950	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2101055	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2170178	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2219891	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2291162	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2355943	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2355945	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2883812	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36188265	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3856932	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4538365	0.86[ASN][1000 genomes]
rs4557148	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4974092	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4974094	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4974099	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4974108	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62257481	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62257499	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6445577	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6445578	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6445601	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6445604	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6445611	0.88[ASN][1000 genomes]
rs6783235	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6796847	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7614317	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7616967	0.86[ASN][1000 genomes]
rs7630714	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7634799	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7640083	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7649069	0.88[ASN][1000 genomes]
rs7651141	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs899750	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9832074	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9832672	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9836464	0.86[ASN][1000 genomes]
rs9856566	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9857598	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9860403	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9870281	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9877188	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs995543	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11715606	TEX264	cis	Esophagus Muscularis	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51235800-51285000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:51252000-51288200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:51252000-51312600	Weak transcription	HSMMtube	muscle
4	chr3:51253400-51312200	Weak transcription	Brain Substantia Nigra	brain
5	chr3:51259800-51284000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:51259800-51284000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:51260000-51284400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:51260000-51284800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:51265800-51284000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:51266400-51284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:51266400-51284200	Weak transcription	Brain Angular Gyrus	brain
12	chr3:51266400-51284800	Weak transcription	Brain Germinal Matrix	brain
13	chr3:51266400-51297000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:51267000-51297600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:51268000-51296200	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:51274800-51284000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:51275400-51284200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:51276400-51284000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:51276600-51284200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:51280400-51284000	Weak transcription	Brain Anterior Caudate	brain
21	chr3:51280400-51286600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:51280400-51298800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:51280600-51284000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:51280800-51285200	Weak transcription	Fetal Brain Female	brain

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