Variant report

Variant	rs10891545
Chromosome Location	chr11:113258065-113258066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:113257958-113258939	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ANKK1	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1003641	0.87[CHD][hapmap];0.83[JPT][hapmap]
rs10502173	0.85[TSI][hapmap]
rs1055076	0.90[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.90[TSI][hapmap];0.92[ASN][1000 genomes]
rs10891541	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10891542	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10891543	0.80[ASN][1000 genomes]
rs10891546	0.85[CHD][hapmap]
rs11214592	0.83[ASN][1000 genomes]
rs11214597	0.82[JPT][hapmap]
rs11214598	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs1124492	0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1124493	0.89[CHD][hapmap];0.83[JPT][hapmap]
rs12224538	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12225351	0.85[TSI][hapmap]
rs12285457	0.92[ASN][1000 genomes]
rs12293753	0.85[TSI][hapmap]
rs17115439	0.85[CHD][hapmap]
rs17115583	0.87[GIH][hapmap];0.81[JPT][hapmap]
rs1943622	0.80[CHB][hapmap]
rs2276070	0.81[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2288159	0.85[TSI][hapmap]
rs2587550	0.87[CHD][hapmap];0.83[JPT][hapmap]
rs2734841	0.83[JPT][hapmap]
rs2859545	0.85[JPT][hapmap]
rs28712705	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3897584	0.80[ASN][1000 genomes]
rs4436578	0.81[JPT][hapmap]
rs4590907	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4601821	0.80[ASN][1000 genomes]
rs4620755	0.87[GIH][hapmap];0.81[JPT][hapmap]
rs4938010	0.92[ASN][1000 genomes]
rs4938011	0.93[ASN][1000 genomes]
rs4938013	0.85[CHD][hapmap]
rs4938014	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4938015	0.85[CHD][hapmap]
rs4938016	0.87[JPT][hapmap]
rs61492892	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6275	0.87[CHD][hapmap];0.83[JPT][hapmap]
rs6276	0.83[JPT][hapmap]
rs6279	0.83[JPT][hapmap]
rs7109196	0.82[JPT][hapmap]
rs713233	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs719803	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs73557236	0.81[ASN][1000 genomes]
rs7949242	0.87[ASN][1000 genomes]
rs877138	0.81[CHB][hapmap];0.89[CHD][hapmap];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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1040152	chr11:113258065-113285916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10891545	TTC12	cis	multi-tissue	Pritchard
rs10891545	TTC12	cis	lymphoblastoid	seeQTL
rs10891545	TIMM8B	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113240200-113258400	Weak transcription	Spleen	Spleen
2	chr11:113249200-113258200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:113255400-113258200	Enhancers	HMEC	breast
4	chr11:113255400-113258400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:113255600-113258200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:113255800-113258200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:113256000-113258200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:113257000-113260200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:113257400-113258200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:113257400-113258200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:113257400-113258400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:113257400-113258400	Bivalent Enhancer	Fetal Stomach	stomach
13	chr11:113257600-113258200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr11:113257600-113258200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr11:113257600-113258200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:113257600-113258400	Weak transcription	Lung	lung
17	chr11:113257600-113259200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:113257800-113258200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:113257800-113258200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:113257800-113258200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr11:113257800-113258400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:113257800-113258800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr11:113258000-113258400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
24	chr11:113258000-113258400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:113258000-113258400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr11:113258000-113258400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr11:113258000-113258600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr11:113258000-113258600	Enhancers	HUVEC	blood vessel
29	chr11:113258000-113258800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:113258000-113259200	Flanking Active TSS	NHEK	skin
31	chr11:113258000-113272200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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