Variant report

Variant	rs7482611
Chromosome Location	chr11:8150026-8150027
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10431029	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1055233	0.90[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10732512	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10734629	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743051	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743052	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10769872	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11041767	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12146654	0.80[CEU][hapmap]
rs1569128	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2049684	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141321	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2272383	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs4758042	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6578931	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6578932	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6578934	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6578935	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7119468	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7358396	0.84[CEU][hapmap]
rs7482535	0.80[EUR][1000 genomes]
rs7937959	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951233	0.89[EUR][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	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1048537	chr11:8137353-8196203	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8117000-8157600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:8126400-8160600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:8128800-8162600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:8132400-8154600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:8132400-8157200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:8132400-8157200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:8132400-8159600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:8132600-8157600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:8132600-8157600	Weak transcription	Ovary	ovary
10	chr11:8132600-8158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:8132600-8160800	Weak transcription	Esophagus	oesophagus
12	chr11:8132600-8172200	Weak transcription	Pancreas	Pancrea
13	chr11:8133600-8157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:8133600-8157800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:8133600-8162800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:8138000-8154400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:8139200-8157200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:8145800-8150200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:8146600-8157800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:8147600-8154800	Weak transcription	Left Ventricle	heart
21	chr11:8148400-8157200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:8148400-8157800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:8148400-8169200	Weak transcription	Brain Anterior Caudate	brain
24	chr11:8148800-8157600	Weak transcription	Brain Angular Gyrus	brain
25	chr11:8148800-8170200	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:8149400-8150200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:8149400-8150600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:8149400-8162200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:8149600-8150200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:8149600-8157200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:8149800-8157800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:8149800-8179600	Weak transcription	Brain Substantia Nigra	brain

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