Variant report

Variant	rs4944595
Chromosome Location	chr11:86280544-86280545
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10792857	0.81[CHD][hapmap]
rs10792858	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10898500	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10898501	0.95[JPT][hapmap]
rs11234691	0.92[CEU][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs12287767	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1458382	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17211115	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1945036	0.95[JPT][hapmap]
rs1945143	0.92[CEU][hapmap]
rs1945146	0.90[MEX][hapmap]
rs4144867	0.95[JPT][hapmap]
rs4391846	0.95[JPT][hapmap]
rs4943946	0.91[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4944594	0.81[ASN][1000 genomes]
rs4944596	0.95[JPT][hapmap]
rs7103271	0.91[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[ASN][1000 genomes]
rs7109521	0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs7109555	0.83[ASN][1000 genomes]
rs7126810	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7127944	0.95[JPT][hapmap]
rs7130902	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7924879	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7951185	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
2	chr11:86270400-86281200	Weak transcription	Colonic Mucosa	Colon
3	chr11:86271000-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:86271000-86285400	Weak transcription	Right Atrium	heart
5	chr11:86271000-86285600	Weak transcription	Right Ventricle	heart
6	chr11:86271000-86291200	Weak transcription	Gastric	stomach
7	chr11:86272400-86285600	Weak transcription	Psoas Muscle	Psoas
8	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
10	chr11:86277200-86282400	Weak transcription	Lung	lung
11	chr11:86277400-86281000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:86277400-86281200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:86277400-86287400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:86277400-86287600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:86277400-86289400	Weak transcription	Brain Anterior Caudate	brain
16	chr11:86278200-86282000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:86278600-86283000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:86278800-86281200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86279000-86280800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:86279000-86281400	Weak transcription	Fetal Intestine Small	intestine
21	chr11:86279000-86285200	Weak transcription	Hela-S3	cervix
22	chr11:86279000-86285600	Weak transcription	Adipose Nuclei	Adipose
23	chr11:86279000-86289000	Weak transcription	NHEK	skin
24	chr11:86279200-86281000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:86279200-86281200	Weak transcription	Fetal Intestine Large	intestine
26	chr11:86279400-86285600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:86279400-86285600	Weak transcription	Fetal Stomach	stomach
28	chr11:86279400-86285600	Weak transcription	Ovary	ovary
29	chr11:86279600-86281000	Weak transcription	HUVEC	blood vessel
30	chr11:86279800-86280800	Weak transcription	A549	lung
31	chr11:86279800-86282800	Weak transcription	Stomach Mucosa	stomach
32	chr11:86279800-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:86279800-86288000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:86280000-86280600	Enhancers	Left Ventricle	heart
35	chr11:86280000-86285600	Weak transcription	Pancreas	Pancrea
36	chr11:86280200-86282000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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