Variant report

Variant	rs4148903
Chromosome Location	chr11:45672725-45672726
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	chr11:45671225..45673031-chr11:45675062..45677985,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10838503	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11038595	0.89[ASN][1000 genomes]
rs11038602	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11038604	0.96[ASN][1000 genomes]
rs11038605	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1992849	0.91[ASN][1000 genomes]
rs2277272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3740702	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3802762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4540819	0.88[ASN][1000 genomes]
rs4755331	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4755334	0.81[ASN][1000 genomes]
rs66798082	0.81[ASN][1000 genomes]
rs72896778	0.96[ASN][1000 genomes]
rs9787901	0.80[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4148903	CHST1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45665600-45674400	Weak transcription	HMEC	breast
2	chr11:45665600-45680000	Weak transcription	Gastric	stomach
3	chr11:45669200-45674000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:45669800-45673200	Weak transcription	Brain Angular Gyrus	brain
5	chr11:45669800-45676400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:45669800-45676400	Weak transcription	HUVEC	blood vessel
7	chr11:45669800-45676600	Weak transcription	Left Ventricle	heart
8	chr11:45670000-45672800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:45670000-45680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:45670200-45673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:45670600-45673200	Strong transcription	Ovary	ovary
12	chr11:45670600-45673800	Strong transcription	Fetal Brain Female	brain
13	chr11:45670600-45675400	Strong transcription	Dnd41	blood
14	chr11:45670600-45676600	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:45671000-45673000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:45671200-45672800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:45671200-45673000	ZNF genes & repeats	Spleen	Spleen
18	chr11:45671200-45673200	Strong transcription	Brain Cingulate Gyrus	brain
19	chr11:45671200-45673400	Strong transcription	Brain Anterior Caudate	brain
20	chr11:45671200-45673400	Strong transcription	Lung	lung
21	chr11:45671200-45676200	Weak transcription	Fetal Brain Male	brain
22	chr11:45671800-45673600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:45671800-45674200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:45672000-45673600	Strong transcription	Brain Germinal Matrix	brain
25	chr11:45672000-45673800	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:45672200-45673400	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr11:45672400-45673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:45672600-45675200	Weak transcription	Aorta	Aorta
29	chr11:45672600-45675800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:45672600-45676400	Weak transcription	Right Ventricle	heart

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