Variant report

Variant	rs4754366
Chromosome Location	chr11:108816374-108816375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10466523	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10502106	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10749927	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.85[TSI][hapmap]
rs10749928	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs10749929	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs10789678	0.92[CEU][hapmap]
rs10789680	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs10789681	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap]
rs10789682	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10789683	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs10789688	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.87[ASN][1000 genomes]
rs10789691	0.87[ASN][1000 genomes]
rs10789693	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10789694	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10789696	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890893	0.91[CEU][hapmap];0.87[CHB][hapmap]
rs10890894	0.92[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.85[TSI][hapmap]
rs10890895	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10890897	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs10890898	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs10890899	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10890901	0.86[ASN][1000 genomes]
rs10890902	0.86[ASN][1000 genomes]
rs10890903	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.87[ASN][1000 genomes]
rs10890905	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10890908	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890909	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11212797	0.87[ASN][1000 genomes]
rs11212802	0.90[ASN][1000 genomes]
rs11212811	0.91[ASN][1000 genomes]
rs11212816	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11212825	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12420572	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap]
rs1824665	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs1863366	0.86[ASN][1000 genomes]
rs2357224	0.84[ASN][1000 genomes]
rs2466930	1.00[YRI][hapmap]
rs2615717	1.00[YRI][hapmap]
rs4237580	0.83[ASN][1000 genomes]
rs4497371	0.92[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs4753849	0.92[CEU][hapmap]
rs4753852	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[ASN][1000 genomes]
rs4754357	0.83[ASN][1000 genomes]
rs4754358	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.85[TSI][hapmap]
rs4754359	0.89[ASN][1000 genomes]
rs61912810	0.90[ASN][1000 genomes]
rs890237	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108800800-108818000	Weak transcription	HMEC	breast
2	chr11:108805200-108829600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:108808800-108819000	Weak transcription	HepG2	liver
4	chr11:108809600-108816800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:108809600-108817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:108809600-108819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:108810000-108816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:108810200-108829000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:108811400-108817800	Weak transcription	Gastric	stomach
10	chr11:108811400-108818400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:108811600-108818200	Weak transcription	A549	lung
12	chr11:108811600-108819400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:108811800-108817000	Enhancers	Fetal Thymus	thymus
14	chr11:108811800-108818200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:108812000-108817000	Weak transcription	Aorta	Aorta
16	chr11:108812000-108817200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:108812000-108817400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:108812000-108817600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:108812000-108818200	Weak transcription	K562	blood
20	chr11:108812000-108818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:108812000-108822200	Weak transcription	Pancreas	Pancrea
22	chr11:108812000-108823400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:108812200-108816800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:108812200-108818200	Weak transcription	NHEK	skin
25	chr11:108812200-108818400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:108812200-108818800	Weak transcription	Ovary	ovary
27	chr11:108812200-108828800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:108812400-108816800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:108812400-108817000	Weak transcription	Adipose Nuclei	Adipose
30	chr11:108812400-108817400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:108812400-108818200	Weak transcription	NH-A	brain
32	chr11:108812600-108818400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:108812800-108818200	Weak transcription	Lung	lung
34	chr11:108812800-108818800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:108813000-108816400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:108813000-108817400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:108813000-108818600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:108813000-108818600	Weak transcription	Liver	Liver
39	chr11:108813000-108819200	Weak transcription	Primary B cells from cord blood	blood
40	chr11:108813200-108817800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:108813400-108818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:108813400-108818800	Weak transcription	HUVEC	blood vessel
43	chr11:108814200-108816400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:108814200-108816600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:108814200-108816600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:108815000-108817600	Weak transcription	HSMM	muscle
47	chr11:108815000-108819000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:108815000-108819200	Weak transcription	Primary T cells from cord blood	blood
49	chr11:108815200-108819000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:108815400-108816400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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