Variant report

Variant	rs11731383
Chromosome Location	chr4:48435097-48435098
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10029785	0.91[JPT][hapmap]
rs1015699	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10805168	0.90[EUR][1000 genomes]
rs1117010	0.80[ASN][1000 genomes]
rs12503644	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12507206	0.81[ASN][1000 genomes]
rs12511991	0.81[ASN][1000 genomes]
rs12645951	0.91[JPT][hapmap]
rs13105385	0.80[ASN][1000 genomes]
rs13115295	0.81[ASN][1000 genomes]
rs13148849	0.80[ASN][1000 genomes]
rs13150017	0.94[ASN][1000 genomes]
rs1352434	0.88[EUR][1000 genomes]
rs1472967	0.91[JPT][hapmap]
rs1488647	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1586540	0.89[EUR][1000 genomes]
rs16861305	0.89[ASN][1000 genomes]
rs1948167	0.89[EUR][1000 genomes]
rs2291474	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2291475	0.91[JPT][hapmap]
rs2353314	0.86[EUR][1000 genomes]
rs2353315	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2353855	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34975258	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35758434	0.90[EUR][1000 genomes]
rs3828496	0.80[ASN][1000 genomes]
rs392187	0.91[JPT][hapmap]
rs404445	0.91[JPT][hapmap]
rs411261	0.91[JPT][hapmap]
rs421833	0.91[JPT][hapmap]
rs4694895	0.89[EUR][1000 genomes]
rs4695377	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695381	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62309455	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62309458	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6447634	0.80[ASN][1000 genomes]
rs6816010	0.91[JPT][hapmap]
rs6821277	0.91[JPT][hapmap]
rs6834339	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6848073	0.91[JPT][hapmap]
rs7438704	0.91[JPT][hapmap]
rs7438713	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs923372	0.80[ASN][1000 genomes]
rs923373	0.80[ASN][1000 genomes]
rs974014	0.80[ASN][1000 genomes]
rs974015	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11731383	SLAIN2	Cis_1M	lymphoblastoid	RTeQTL
rs11731383	SLC10A4	cis	lung	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48423400-48438200	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48425200-48441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:48425400-48438400	Weak transcription	HSMMtube	muscle
4	chr4:48425800-48438400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:48425800-48438600	Weak transcription	Fetal Intestine Large	intestine
6	chr4:48426000-48438200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:48426000-48442000	Weak transcription	K562	blood
8	chr4:48430200-48438600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:48431000-48438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:48433400-48438400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:48434000-48438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:48434000-48441800	Weak transcription	Left Ventricle	heart
13	chr4:48434600-48438400	Weak transcription	Stomach Mucosa	stomach

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