Variant report

Variant	rs3740702
Chromosome Location	chr11:45670395-45670396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10838503	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11038595	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11038602	0.92[ASN][1000 genomes]
rs11038604	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11038605	0.91[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038611	1.00[AFR][1000 genomes]
rs1992849	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2277272	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3802762	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4148898	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4148902	0.97[ASN][1000 genomes]
rs4148903	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4540819	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4755331	0.92[ASN][1000 genomes]
rs66798082	0.81[ASN][1000 genomes]
rs72896725	0.88[EUR][1000 genomes]
rs72896778	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72910683	0.88[EUR][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	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3740702	CHST1	cis	Esophagus Mucosa	GTEx
rs3740702	CHST1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45663600-45671200	Weak transcription	Spleen	Spleen
2	chr11:45665600-45671000	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:45665600-45674400	Weak transcription	HMEC	breast
4	chr11:45665600-45680000	Weak transcription	Gastric	stomach
5	chr11:45665800-45670600	Weak transcription	Fetal Brain Female	brain
6	chr11:45665800-45670600	Weak transcription	Right Ventricle	heart
7	chr11:45665800-45671200	Weak transcription	Brain Anterior Caudate	brain
8	chr11:45665800-45671800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:45666200-45671000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:45667800-45670600	Weak transcription	Aorta	Aorta
11	chr11:45668600-45670600	Weak transcription	Ovary	ovary
12	chr11:45668600-45671200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:45669000-45670600	Weak transcription	Dnd41	blood
14	chr11:45669000-45671200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:45669200-45674000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:45669400-45672200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:45669600-45670600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:45669600-45671000	Weak transcription	Brain Germinal Matrix	brain
19	chr11:45669600-45671200	Weak transcription	Lung	lung
20	chr11:45669800-45671400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:45669800-45673200	Weak transcription	Brain Angular Gyrus	brain
22	chr11:45669800-45676400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:45669800-45676400	Weak transcription	HUVEC	blood vessel
24	chr11:45669800-45676600	Weak transcription	Left Ventricle	heart
25	chr11:45670000-45672800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:45670000-45680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:45670200-45670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:45670200-45670600	Flanking Active TSS	K562	blood
29	chr11:45670200-45673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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