Variant report

Variant	rs2962505
Chromosome Location	chr5:145533786-145533787
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10491259	0.91[YRI][hapmap]
rs11948017	0.86[AFR][1000 genomes]
rs11953506	0.80[YRI][hapmap]
rs11960075	0.80[YRI][hapmap]
rs2063002	0.91[YRI][hapmap]
rs2939521	0.86[AFR][1000 genomes]
rs2939522	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2939526	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2939534	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2939536	0.91[YRI][hapmap]
rs2939537	0.80[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2939538	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962500	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2962506	0.80[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962507	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962512	0.80[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962514	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962516	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2963913	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963937	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6877277	0.91[YRI][hapmap]
rs6884711	0.94[AFR][1000 genomes]
rs6893477	0.86[AFR][1000 genomes]
rs7707229	0.91[YRI][hapmap]

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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:145490800-145535200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:145491000-145542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:145491000-145551600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:145491200-145534000	Strong transcription	Osteobl	bone
8	chr5:145491200-145552600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
12	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:145491600-145557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:145491800-145541400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:145491800-145546400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr5:145492000-145552200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:145495800-145559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:145496200-145552200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:145499000-145557400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:145500200-145541400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:145506200-145542000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:145506400-145541800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:145510800-145546800	Strong transcription	Primary T cells from cord blood	blood
27	chr5:145511200-145534400	Strong transcription	Fetal Muscle Leg	muscle
28	chr5:145511200-145542000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr5:145511200-145542200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:145511200-145548000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:145511400-145534800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:145511400-145535000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:145511600-145552800	Strong transcription	Fetal Thymus	thymus
34	chr5:145511600-145556800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:145515800-145537000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:145515800-145546800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:145515800-145557400	Strong transcription	Liver	Liver
38	chr5:145516800-145545600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:145517000-145553000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:145518400-145534200	Strong transcription	Fetal Intestine Large	intestine
41	chr5:145518600-145545200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:145518800-145552800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:145519000-145551600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:145519200-145558200	Strong transcription	Dnd41	blood
45	chr5:145519400-145545200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:145519400-145551800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:145519600-145546800	Strong transcription	HSMM	muscle
48	chr5:145520000-145551800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr5:145520200-145551800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr5:145520600-145534200	Strong transcription	K562	blood

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