Variant report

Variant	rs11234744
Chromosome Location	chr11:86404891-86404892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10501626	0.91[CHB][hapmap]
rs10898526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11234738	0.95[ASN][1000 genomes]
rs11234739	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234741	0.98[ASN][1000 genomes]
rs11234743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11234745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234746	0.93[ASN][1000 genomes]
rs12574672	0.89[ASN][1000 genomes]
rs12575285	0.92[CHB][hapmap]
rs12789412	0.95[ASN][1000 genomes]
rs17211458	0.92[CHB][hapmap]
rs17818845	0.84[CHB][hapmap]
rs17819523	0.90[CHB][hapmap]
rs17819683	0.91[CHB][hapmap]
rs1945142	0.92[CHB][hapmap]
rs2433412	0.94[ASN][1000 genomes]
rs2433413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2433414	0.95[ASN][1000 genomes]
rs2433415	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4619178	0.94[ASN][1000 genomes]
rs539214	0.84[CHB][hapmap]
rs543336	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs544199	0.94[ASN][1000 genomes]
rs575273	0.94[ASN][1000 genomes]
rs575468	0.94[ASN][1000 genomes]
rs600242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs602498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs659301	0.83[CHB][hapmap]
rs66878934	0.89[ASN][1000 genomes]
rs672266	0.83[CHB][hapmap]
rs67655324	0.91[ASN][1000 genomes]
rs72961766	0.85[ASN][1000 genomes]
rs72961771	0.93[ASN][1000 genomes]
rs746491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7933920	0.97[ASN][1000 genomes]
rs7939319	0.98[ASN][1000 genomes]
rs7948924	0.95[ASN][1000 genomes]
rs949348	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11234744	ME3	cis	Nerve Tibial	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86385200-86411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:86388000-86409600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:86393000-86406800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:86398800-86405400	Weak transcription	Hela-S3	cervix
6	chr11:86399600-86415800	Weak transcription	Fetal Heart	heart
7	chr11:86399800-86406400	Weak transcription	HUVEC	blood vessel
8	chr11:86399800-86406600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:86400600-86405000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:86400600-86405000	Weak transcription	HSMMtube	muscle
11	chr11:86400600-86406600	Weak transcription	Aorta	Aorta
12	chr11:86400600-86406600	Weak transcription	Left Ventricle	heart
13	chr11:86400600-86406600	Weak transcription	Right Ventricle	heart
14	chr11:86400600-86410800	Weak transcription	Psoas Muscle	Psoas
15	chr11:86400600-86414800	Weak transcription	Ovary	ovary
16	chr11:86400800-86405000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:86402800-86407600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:86402800-86408000	Enhancers	HSMM	muscle
19	chr11:86402800-86408600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:86402800-86410600	Enhancers	NHDF-Ad	bronchial
21	chr11:86403000-86405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:86403000-86406600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:86403000-86406800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:86403000-86408000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:86403200-86405600	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:86403200-86408000	Enhancers	Osteobl	bone
27	chr11:86403400-86406000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:86403400-86408400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:86404000-86405000	Weak transcription	A549	lung
30	chr11:86404000-86405400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:86404200-86405200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:86404200-86405400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:86404200-86406000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:86404200-86406000	Enhancers	Colon Smooth Muscle	Colon
35	chr11:86404400-86405000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:86404400-86406200	Weak transcription	NHEK	skin
37	chr11:86404400-86406400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:86404400-86406400	Weak transcription	NH-A	brain
39	chr11:86404600-86405000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:86404600-86405600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:86404800-86405800	Weak transcription	NHLF	lung
42	chr11:86404800-86406400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:86404800-86408400	Enhancers	HMEC	breast

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