Variant report

Variant	rs10128711
Chromosome Location	chr11:18632984-18632985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18629347..18632000-chr11:18632583..18634106,2	K562	blood:
2	chr11:18629851..18633818-chr11:18636242..18638829,5	K562	blood:
3	chr11:18629872..18633193-chr11:18634242..18638507,6	K562	blood:
4	chr11:18632328..18634710-chr11:18635963..18638562,2	MCF-7	breast:
5	chr11:18623737..18625685-chr11:18631766..18634861,3	K562	blood:

Variant related genes	Relation type
ENSG00000247595	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10500834	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832950	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832954	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832956	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832961	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10832962	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024735	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024737	1.00[YRI][hapmap]
rs11024739	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024743	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12365747	0.82[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs2084220	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2166519	0.88[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs2896537	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4237722	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4757674	0.81[ASN][1000 genomes]
rs4757676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757678	1.00[YRI][hapmap]
rs7943121	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv516413	chr11:18628418-18643758	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Cholesterol, total	24097068	GWAS catalog
Cholesterol, total	20686565	GWAS catalog

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18611200-18636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:18611400-18635800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:18618000-18636400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:18618400-18635000	Weak transcription	NHEK	skin
8	chr11:18618600-18635000	Weak transcription	Esophagus	oesophagus
9	chr11:18618600-18636200	Weak transcription	Pancreas	Pancrea
10	chr11:18618600-18636200	Weak transcription	Right Ventricle	heart
11	chr11:18624000-18637800	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:18624800-18640800	Weak transcription	Right Atrium	heart
13	chr11:18625000-18635200	Weak transcription	Small Intestine	intestine
14	chr11:18625200-18637200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:18625200-18637800	Strong transcription	A549	lung
16	chr11:18625800-18633200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:18625800-18638400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:18626200-18633000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:18626200-18635600	Weak transcription	Gastric	stomach
20	chr11:18626200-18638000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:18626200-18638800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:18626800-18634200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:18627200-18633200	Strong transcription	Brain Germinal Matrix	brain
24	chr11:18627200-18634000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:18627200-18637200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:18627400-18634200	Strong transcription	Primary T cells from cord blood	blood
27	chr11:18627400-18636600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:18627400-18638000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:18627600-18634000	Strong transcription	Fetal Brain Female	brain
30	chr11:18627600-18637200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:18627600-18637200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:18627600-18637400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:18627600-18637600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:18627600-18638200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:18627600-18638400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:18628000-18633000	Weak transcription	Fetal Brain Male	brain
37	chr11:18628400-18637600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:18628600-18633000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:18628600-18633000	Strong transcription	Fetal Lung	lung
40	chr11:18628600-18633200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:18628600-18636600	Strong transcription	GM12878-XiMat	blood
42	chr11:18628600-18636800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:18628600-18637200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:18628600-18637600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:18628600-18637600	Strong transcription	NH-A	brain
46	chr11:18628600-18638200	Strong transcription	Liver	Liver
47	chr11:18628600-18638200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:18628600-18638400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:18628600-18638600	Strong transcription	Placenta	Placenta
50	chr11:18628800-18633000	Strong transcription	Colon Smooth Muscle	Colon

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