Variant report

Variant	rs10493753
Chromosome Location	chr1:84991669-84991670
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84969735..84979623-chr1:84983174..84994888,16	K562	blood:
2	chr1:84985686..84987846-chr1:84990963..84992844,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPF1-1	chr1:84991528-84991756	NONHSAT004204
2	lnc-RPF1-1	chr1:84991528-84992571	NONHSAT004205
3	lnc-RPF1-1	chr1:84991528-84991756	NONHSAT004207
4	lnc-RPF1-1	chr1:84991528-84991759	NONHSAT004210
5	lnc-RPF1-1	chr1:84991528-84991755	NONHSAT004209
6	lnc-RPF1-1	chr1:84991528-84991756	NONHSAT004211

No data

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction
ENSG00000122432	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1043493	0.92[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs11163991	0.81[AFR][1000 genomes]
rs11164003	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11164009	0.83[GIH][hapmap]
rs1156435	1.00[CEU][hapmap];0.92[GIH][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs11801891	0.89[EUR][1000 genomes]
rs11802781	0.89[EUR][1000 genomes]
rs11804372	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17099163	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs17110157	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17110695	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110700	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110865	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17111233	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17111283	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17111299	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17111308	1.00[CEU][hapmap];0.92[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs17111314	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17111351	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17111464	1.00[CEU][hapmap];0.92[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs17111498	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17131722	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17131723	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs56935748	0.89[EUR][1000 genomes]
rs58273089	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58339631	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59441149	1.00[EUR][1000 genomes]
rs59898877	0.89[EUR][1000 genomes]
rs61699375	0.89[EUR][1000 genomes]
rs6681870	0.83[GIH][hapmap]
rs6683385	1.00[EUR][1000 genomes]
rs6688208	1.00[CEU][hapmap]
rs72950323	0.89[EUR][1000 genomes]
rs72950341	0.89[EUR][1000 genomes]
rs7524406	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7528067	1.00[CEU][hapmap];0.83[TSI][hapmap];1.00[EUR][1000 genomes]
rs7530632	0.89[EUR][1000 genomes]
rs7547026	1.00[CEU][hapmap]
rs9782922	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84973000-85003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:84973200-85003200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:84973400-84993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:84973400-84994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:84973400-84995200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:84973400-85002000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:84975200-85019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:84975800-85030200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:84979600-84994400	Weak transcription	Primary B cells from cord blood	blood
10	chr1:84981600-85012200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:84982400-85026800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:84985000-84994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:84987000-85003200	Weak transcription	Left Ventricle	heart
14	chr1:84988200-85020600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:84991000-85034200	Weak transcription	Esophagus	oesophagus
16	chr1:84991000-85038200	Weak transcription	Thymus	Thymus
17	chr1:84991200-84993800	Weak transcription	Liver	Liver
18	chr1:84991400-84992000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:84991600-84991800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
20	chr1:84991600-84992000	Enhancers	Brain Germinal Matrix	brain
21	chr1:84991600-84992200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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