Variant report

Variant	rs284269
Chromosome Location	chr1:10655936-10655937
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10655023..10657893-chr1:10665049..10667461,2	K562	blood:
2	chr1:10655095..10656837-chr1:10658126..10659763,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12047856	0.92[EUR][1000 genomes]
rs12087384	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12090714	0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs12567436	0.92[EUR][1000 genomes]
rs284271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs284273	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs284281	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs479407	0.84[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs517344	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57853007	0.87[EUR][1000 genomes]
rs59790639	0.87[EUR][1000 genomes]
rs60101188	0.87[EUR][1000 genomes]
rs60257606	0.87[EUR][1000 genomes]
rs72857041	0.89[EUR][1000 genomes]
rs72857049	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:10628400-10661600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:10629800-10659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:10631800-10659200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:10636200-10656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:10636400-10656200	Weak transcription	NHEK	skin
10	chr1:10636600-10658000	Weak transcription	Spleen	Spleen
11	chr1:10637400-10659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:10638400-10657400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:10638400-10661600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:10638600-10661600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:10639800-10659200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:10640400-10656600	Weak transcription	Placenta	Placenta
17	chr1:10643200-10656200	Weak transcription	Primary T cells from cord blood	blood
18	chr1:10644200-10683400	Weak transcription	K562	blood
19	chr1:10648200-10656200	Weak transcription	Gastric	stomach
20	chr1:10649400-10657800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:10650000-10659200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:10650200-10670600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:10651200-10659200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:10651400-10656200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:10651400-10656200	Weak transcription	Stomach Mucosa	stomach
26	chr1:10651400-10658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:10651400-10659000	Weak transcription	Dnd41	blood
28	chr1:10651400-10659200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:10651400-10672800	Weak transcription	Thymus	Thymus
30	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:10652000-10657000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:10652000-10657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:10652000-10657600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:10652000-10659000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:10652000-10659000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:10652200-10656000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:10652200-10658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:10652400-10656000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:10652400-10657400	Weak transcription	Adipose Nuclei	Adipose
40	chr1:10652400-10657600	Weak transcription	HSMMtube	muscle
41	chr1:10652400-10658800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:10652400-10661400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:10652400-10678400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:10652800-10656000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:10652800-10656000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:10652800-10656400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:10653000-10656400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:10653400-10660800	Weak transcription	Fetal Heart	heart
49	chr1:10653600-10656200	Weak transcription	Fetal Lung	lung
50	chr1:10653600-10657000	Weak transcription	Fetal Thymus	thymus

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