Variant report

Variant	rs3750954
Chromosome Location	chr11:8149553-8149554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10769880	0.92[TSI][hapmap]
rs10839983	0.91[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11041759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11826236	0.92[TSI][hapmap]
rs1406093	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1528128	0.92[TSI][hapmap]
rs1528133	1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs16936374	1.00[TSI][hapmap]
rs16936464	0.92[TSI][hapmap]
rs2272384	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3750956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3930849	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758043	0.91[MEX][hapmap]
rs4758045	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4758295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4758298	0.92[TSI][hapmap]
rs4758301	0.92[TSI][hapmap]
rs57845267	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59123180	0.95[ASN][1000 genomes]
rs6578933	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7113581	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7116667	0.91[MEX][hapmap];0.92[TSI][hapmap]
rs7481121	0.91[JPT][hapmap]
rs9783349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][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	chr11:8148200-8149800	Enhancers	Brain Substantia Nigra	brain
22	chr11:8148400-8157200	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:8148400-8157800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:8148400-8169200	Weak transcription	Brain Anterior Caudate	brain
25	chr11:8148800-8149600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:8148800-8157600	Weak transcription	Brain Angular Gyrus	brain
27	chr11:8148800-8170200	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:8149200-8150000	Enhancers	GM12878-XiMat	blood
29	chr11:8149400-8149800	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:8149400-8150200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:8149400-8150600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:8149400-8162200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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