Variant report

Variant	rs71489929
Chromosome Location	chr11:108816730-108816731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10502103	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11212824	0.98[ASN][1000 genomes]
rs12574721	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12574758	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12575278	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12577382	0.82[ASN][1000 genomes]
rs12785398	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12794597	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12796331	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12802313	0.82[ASN][1000 genomes]
rs12808674	0.82[ASN][1000 genomes]
rs17108703	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17108744	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2553749	0.87[ASN][1000 genomes]
rs2553750	0.87[ASN][1000 genomes]
rs2553751	0.85[ASN][1000 genomes]
rs2615756	0.81[ASN][1000 genomes]
rs2726896	0.87[ASN][1000 genomes]
rs28736339	0.81[ASN][1000 genomes]
rs34350110	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34354308	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34363971	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34451436	0.81[ASN][1000 genomes]
rs34593113	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34651663	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34848528	0.82[ASN][1000 genomes]
rs35244070	0.82[ASN][1000 genomes]
rs35430545	0.83[ASN][1000 genomes]
rs35517426	0.85[ASN][1000 genomes]
rs35756735	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs36034048	0.81[ASN][1000 genomes]
rs36043878	0.81[ASN][1000 genomes]
rs4317954	0.90[ASN][1000 genomes]
rs57014838	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs71489919	0.81[ASN][1000 genomes]
rs71489925	0.82[ASN][1000 genomes]
rs71489928	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7930675	0.86[ASN][1000 genomes]
rs898972	0.82[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:45 , 50 per page) page: 1

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	chr11:108810200-108829000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:108811400-108817800	Weak transcription	Gastric	stomach
9	chr11:108811400-108818400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:108811600-108818200	Weak transcription	A549	lung
11	chr11:108811600-108819400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:108811800-108817000	Enhancers	Fetal Thymus	thymus
13	chr11:108811800-108818200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:108812000-108817000	Weak transcription	Aorta	Aorta
15	chr11:108812000-108817200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:108812000-108817400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:108812000-108817600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:108812000-108818200	Weak transcription	K562	blood
19	chr11:108812000-108818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:108812000-108822200	Weak transcription	Pancreas	Pancrea
21	chr11:108812000-108823400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:108812200-108816800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:108812200-108818200	Weak transcription	NHEK	skin
24	chr11:108812200-108818400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:108812200-108818800	Weak transcription	Ovary	ovary
26	chr11:108812200-108828800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:108812400-108816800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:108812400-108817000	Weak transcription	Adipose Nuclei	Adipose
29	chr11:108812400-108817400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:108812400-108818200	Weak transcription	NH-A	brain
31	chr11:108812600-108818400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:108812800-108818200	Weak transcription	Lung	lung
33	chr11:108812800-108818800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:108813000-108817400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:108813000-108818600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:108813000-108818600	Weak transcription	Liver	Liver
37	chr11:108813000-108819200	Weak transcription	Primary B cells from cord blood	blood
38	chr11:108813200-108817800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:108813400-108818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:108813400-108818800	Weak transcription	HUVEC	blood vessel
41	chr11:108815000-108817600	Weak transcription	HSMM	muscle
42	chr11:108815000-108819000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:108815000-108819200	Weak transcription	Primary T cells from cord blood	blood
44	chr11:108815200-108819000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:108815600-108818400	Weak transcription	Fetal Muscle Leg	muscle

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