Variant report

Variant	rs4148901
Chromosome Location	chr11:45672926-45672927
allele	A/C
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf94-5	chr11:45672783-45673640	NONHSAT019041
2	lnc-CTD-2210P24.4.1-2	chr11:45672876-45673104	NONHSAT019042

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1026078	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10769158	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10769159	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10838504	0.84[AFR][1000 genomes]
rs11603055	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12420703	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2012019	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4148894	0.91[AFR][1000 genomes]
rs4148895	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148899	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737244	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs895733	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs895734	1.00[ASW][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4148901	CHST1	cis	parietal	SCAN
rs4148901	OR4C45	cis	cerebellum	SCAN
rs4148901	F2	cis	cerebellum	SCAN

Chromatin state (count:29 , 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	chr11:45670000-45680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:45670200-45673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:45670600-45673200	Strong transcription	Ovary	ovary
11	chr11:45670600-45673800	Strong transcription	Fetal Brain Female	brain
12	chr11:45670600-45675400	Strong transcription	Dnd41	blood
13	chr11:45670600-45676600	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:45671000-45673000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:45671200-45673000	ZNF genes & repeats	Spleen	Spleen
16	chr11:45671200-45673200	Strong transcription	Brain Cingulate Gyrus	brain
17	chr11:45671200-45673400	Strong transcription	Brain Anterior Caudate	brain
18	chr11:45671200-45673400	Strong transcription	Lung	lung
19	chr11:45671200-45676200	Weak transcription	Fetal Brain Male	brain
20	chr11:45671800-45673600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:45671800-45674200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:45672000-45673600	Strong transcription	Brain Germinal Matrix	brain
23	chr11:45672000-45673800	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:45672200-45673400	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr11:45672400-45673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:45672600-45675200	Weak transcription	Aorta	Aorta
27	chr11:45672600-45675800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:45672600-45676400	Weak transcription	Right Ventricle	heart
29	chr11:45672800-45674200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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