Variant report

Variant	rs10793054
Chromosome Location	chr11:72662812-72662813
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72662616..72664158-chr11:72667252..72669595,2	K562	blood:
2	chr11:72656692..72659445-chr11:72660931..72662895,2	MCF-7	breast:
3	chr11:72662658..72664172-chr11:72667529..72669595,2	K562	blood:
4	chr11:72642359..72644585-chr11:72662494..72664932,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10793048	0.82[YRI][hapmap]
rs10793049	0.84[YRI][hapmap]
rs10793055	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10793056	0.87[CHB][hapmap];0.95[YRI][hapmap]
rs10898885	0.82[YRI][hapmap]
rs10898894	0.95[YRI][hapmap]
rs10898895	0.90[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11235612	0.95[CEU][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12294533	0.95[YRI][hapmap]
rs2276379	0.95[YRI][hapmap]
rs2303969	1.00[CEU][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4394861	0.82[YRI][hapmap]
rs6592508	0.87[CHB][hapmap];0.95[YRI][hapmap]
rs7129921	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7925466	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7925928	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7936751	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7937701	0.87[CHB][hapmap];0.96[YRI][hapmap]
rs7943424	0.91[CHB][hapmap];0.86[YRI][hapmap]
rs9645708	0.95[CEU][hapmap];0.95[YRI][hapmap];0.83[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	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72633000-72680000	Weak transcription	Dnd41	blood
2	chr11:72633000-72684000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:72633200-72668400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:72633400-72679400	Weak transcription	Fetal Thymus	thymus
5	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
6	chr11:72636400-72680200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:72637400-72666000	Weak transcription	Ovary	ovary
10	chr11:72637400-72666400	Weak transcription	Right Ventricle	heart
11	chr11:72641800-72680200	Weak transcription	HSMMtube	muscle
12	chr11:72643600-72676400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:72643800-72668400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:72643800-72673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:72647200-72670800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:72647200-72680800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
18	chr11:72649600-72681600	Weak transcription	Aorta	Aorta
19	chr11:72649800-72679400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:72650400-72666600	Weak transcription	HepG2	liver
21	chr11:72651400-72666400	Weak transcription	HUVEC	blood vessel
22	chr11:72651400-72696600	Weak transcription	Brain Anterior Caudate	brain
23	chr11:72651600-72680400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:72651600-72680600	Weak transcription	Fetal Stomach	stomach
25	chr11:72651800-72674600	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:72651800-72680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:72652000-72666000	Weak transcription	Brain Substantia Nigra	brain
28	chr11:72652200-72666000	Weak transcription	Left Ventricle	heart
29	chr11:72653400-72664200	Weak transcription	Fetal Intestine Small	intestine
30	chr11:72653400-72681800	Weak transcription	Pancreas	Pancrea
31	chr11:72654000-72671200	Weak transcription	HSMM	muscle
32	chr11:72658200-72666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:72658400-72671400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:72658600-72668600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:72661800-72664400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:72661800-72668000	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr11:72662000-72663000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:72662000-72663000	Enhancers	Liver	Liver
39	chr11:72662000-72663200	Enhancers	Osteobl	bone
40	chr11:72662000-72665600	Enhancers	Fetal Heart	heart
41	chr11:72662200-72680800	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:72662400-72663000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:72662400-72663000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:72662400-72663200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:72662400-72663400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:72662400-72663600	Enhancers	NHEK	skin
47	chr11:72662400-72665200	Enhancers	Fetal Intestine Large	intestine
48	chr11:72662400-72668000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr11:72662600-72663000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr11:72662600-72663200	Flanking Active TSS	Primary B cells from cord blood	blood

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