Variant report

Variant	rs10753475
Chromosome Location	chr1:224811853-224811854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10799587	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10916650	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10916652	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1499290	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1809879	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2088619	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2405310	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2405313	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4654049	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6659753	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7538145	0.81[EUR][1000 genomes]
rs991834	0.95[AMR][1000 genomes];0.94[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224805800-224812200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:224806600-224812800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:224806600-224813600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:224808800-224812400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224809400-224815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:224809800-224812800	Enhancers	HMEC	breast
7	chr1:224810000-224812000	Enhancers	NHDF-Ad	bronchial
8	chr1:224810000-224812800	Enhancers	Fetal Intestine Large	intestine
9	chr1:224810200-224812000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:224810200-224812000	Enhancers	NHLF	lung
11	chr1:224810400-224812000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:224810400-224812400	Enhancers	Gastric	stomach
13	chr1:224810400-224812400	Enhancers	HUVEC	blood vessel
14	chr1:224810400-224813000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:224810400-224813000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:224810400-224813600	Enhancers	Pancreas	Pancrea
17	chr1:224810400-224814600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:224810400-224819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:224810600-224812000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:224810600-224812000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:224810600-224812400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:224810600-224812600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:224810600-224812800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:224810600-224812800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:224810600-224813000	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:224810600-224813000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:224810600-224813600	Enhancers	Fetal Thymus	thymus
28	chr1:224810600-224814600	Enhancers	HSMM	muscle
29	chr1:224810600-224814800	Enhancers	Fetal Brain Male	brain
30	chr1:224810600-224814800	Enhancers	Osteobl	bone
31	chr1:224810800-224812000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:224810800-224812800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:224810800-224812800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:224810800-224813000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr1:224810800-224815600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:224811000-224812400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:224811000-224812400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:224811000-224812400	Flanking Active TSS	Dnd41	blood
39	chr1:224811000-224812400	Enhancers	HSMMtube	muscle
40	chr1:224811000-224812400	Bivalent Enhancer	NHEK	skin
41	chr1:224811000-224812800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:224811000-224819800	Weak transcription	Right Atrium	heart
43	chr1:224811200-224812000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:224811200-224812000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:224811200-224812200	Enhancers	Thymus	Thymus
46	chr1:224811200-224812400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:224811400-224812000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr1:224811400-224812200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr1:224811400-224812200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:224811400-224812200	Enhancers	GM12878-XiMat	blood

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