Variant report

Variant	rs11249599
Chromosome Location	chr5:178303009-178303010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10039708	0.81[EUR][1000 genomes]
rs11948175	0.83[EUR][1000 genomes]
rs11948664	0.83[EUR][1000 genomes]
rs11948690	0.81[EUR][1000 genomes]
rs11949180	0.82[EUR][1000 genomes]
rs11949181	0.82[EUR][1000 genomes]
rs11949892	0.82[EUR][1000 genomes]
rs11949941	0.81[EUR][1000 genomes]
rs11950641	0.81[EUR][1000 genomes]
rs11952790	0.81[EUR][1000 genomes]
rs11955047	0.81[EUR][1000 genomes]
rs11958887	0.82[EUR][1000 genomes]
rs11958941	0.83[EUR][1000 genomes]
rs11960942	0.83[EUR][1000 genomes]
rs12553	0.81[EUR][1000 genomes]
rs35609799	0.83[EUR][1000 genomes]
rs35957383	0.83[EUR][1000 genomes]
rs56814168	0.83[EUR][1000 genomes]
rs56872885	0.81[EUR][1000 genomes]
rs56951084	0.81[EUR][1000 genomes]
rs58354049	0.81[EUR][1000 genomes]
rs58554591	0.83[EUR][1000 genomes]
rs58672680	0.81[EUR][1000 genomes]
rs58679434	0.81[EUR][1000 genomes]
rs58941917	0.83[EUR][1000 genomes]
rs59242428	0.81[EUR][1000 genomes]
rs59994898	0.81[EUR][1000 genomes]
rs60178472	0.81[EUR][1000 genomes]
rs60277514	0.81[EUR][1000 genomes]
rs60417551	0.81[EUR][1000 genomes]
rs60601817	0.81[EUR][1000 genomes]
rs60813042	0.81[EUR][1000 genomes]
rs61295075	0.83[EUR][1000 genomes]
rs61310482	0.81[EUR][1000 genomes]
rs6859174	0.81[EUR][1000 genomes]
rs6861717	0.82[EUR][1000 genomes]
rs6863202	0.82[EUR][1000 genomes]
rs6863603	0.81[EUR][1000 genomes]
rs6867653	0.89[JPT][hapmap]
rs6870926	0.82[EUR][1000 genomes]
rs6871003	0.89[JPT][hapmap]
rs6877663	0.83[EUR][1000 genomes]
rs6878353	0.81[EUR][1000 genomes]
rs6882396	0.83[EUR][1000 genomes]
rs6883566	0.83[EUR][1000 genomes]
rs6887256	0.83[EUR][1000 genomes]
rs6894878	0.81[EUR][1000 genomes]
rs7706558	0.81[EUR][1000 genomes]
rs7716977	1.00[ASN][1000 genomes]
rs7729560	0.82[EUR][1000 genomes]
rs7729717	0.82[EUR][1000 genomes]
rs7731067	0.81[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	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv462574	chr5:178269682-178313078	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv600463	chr5:178269682-178313078	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178288200-178317400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr5:178288800-178317400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:178289600-178317400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:178291200-178317400	ZNF genes & repeats	Liver	Liver
5	chr5:178292600-178305000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:178292600-178305200	Strong transcription	Stomach Smooth Muscle	stomach
7	chr5:178296000-178305000	ZNF genes & repeats	A549	lung
8	chr5:178296000-178305200	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr5:178296000-178305400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
10	chr5:178296000-178319200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr5:178296200-178315600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr5:178296200-178319200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:178296400-178311200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr5:178296400-178317600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr5:178297200-178315800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr5:178297400-178315600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr5:178297400-178317400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:178297400-178317400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr5:178297400-178317400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:178297600-178303600	ZNF genes & repeats	NHEK	skin
21	chr5:178297600-178305000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:178297600-178305200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr5:178297600-178317400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:178298000-178305200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr5:178298200-178305000	Strong transcription	Psoas Muscle	Psoas
26	chr5:178298400-178305000	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr5:178298600-178304000	Strong transcription	Fetal Kidney	kidney
28	chr5:178298600-178305000	ZNF genes & repeats	Brain Hippocampus Middle	brain
29	chr5:178298800-178317800	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr5:178299000-178303400	ZNF genes & repeats	HMEC	breast
31	chr5:178299000-178310600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
32	chr5:178299000-178317600	ZNF genes & repeats	Fetal Brain Female	brain
33	chr5:178299200-178314000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr5:178299400-178305000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr5:178299400-178310200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:178299400-178317400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:178299600-178305000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr5:178299600-178305000	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr5:178299600-178309000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
40	chr5:178299600-178317400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr5:178299800-178317400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:178299800-178317600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:178300000-178305000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
44	chr5:178300000-178305200	ZNF genes & repeats	Fetal Lung	lung
45	chr5:178300200-178305000	ZNF genes & repeats	Dnd41	blood
46	chr5:178300200-178305000	ZNF genes & repeats	NHDF-Ad	bronchial
47	chr5:178300200-178305200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:178300200-178305200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
49	chr5:178300200-178305200	ZNF genes & repeats	HepG2	liver
50	chr5:178300200-178311400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood

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