Variant report

Variant	rs57535767
Chromosome Location	chr14:70791349-70791350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10133282	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136230	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10139500	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10142102	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144588	0.82[EUR][1000 genomes]
rs10144818	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10144926	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10148586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10150707	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10873230	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11844845	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12431493	0.80[EUR][1000 genomes]
rs12588623	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2332415	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332417	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2877657	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2877669	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28830860	0.96[ASN][1000 genomes]
rs4048519	0.99[EUR][1000 genomes]
rs4902815	0.83[ASN][1000 genomes]
rs55728800	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56977342	0.99[ASN][1000 genomes]
rs57495576	0.99[ASN][1000 genomes]
rs58186506	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573949	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67203490	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141636	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7141694	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7144478	0.82[ASN][1000 genomes]
rs7148445	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8005522	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8014179	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8014459	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016520	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9323536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9630398	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70781200-70796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:70782600-70791800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:70782600-70791800	Weak transcription	HSMMtube	muscle
4	chr14:70783200-70792400	Weak transcription	HMEC	breast
5	chr14:70783400-70799200	Weak transcription	NHEK	skin
6	chr14:70783600-70791800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:70783600-70791800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:70783600-70792000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:70783600-70798600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:70784000-70792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:70784000-70792400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:70784000-70801000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:70784200-70792200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:70784200-70800600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:70784600-70798600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:70784800-70798800	Weak transcription	Gastric	stomach
17	chr14:70785400-70799200	Weak transcription	Stomach Mucosa	stomach
18	chr14:70785600-70799000	Weak transcription	Psoas Muscle	Psoas
19	chr14:70786000-70794400	Weak transcription	Fetal Intestine Large	intestine
20	chr14:70786000-70794600	Weak transcription	Fetal Intestine Small	intestine
21	chr14:70786000-70799200	Weak transcription	Pancreas	Pancrea
22	chr14:70786800-70792200	Weak transcription	HepG2	liver
23	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:70788400-70791800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:70788400-70792400	Weak transcription	Osteobl	bone
26	chr14:70788600-70791400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:70788600-70794400	Weak transcription	Left Ventricle	heart
28	chr14:70788800-70791400	Weak transcription	Adipose Nuclei	Adipose
29	chr14:70788800-70792200	Weak transcription	Brain Angular Gyrus	brain
30	chr14:70789000-70791400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:70789000-70791800	Weak transcription	Lung	lung
32	chr14:70789000-70793600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:70789000-70798600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:70789200-70791800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:70789200-70791800	Weak transcription	Dnd41	blood
36	chr14:70789200-70792000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:70789200-70792000	Weak transcription	Ovary	ovary
38	chr14:70789200-70792400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:70789200-70798600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:70789400-70791600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:70789400-70791800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:70789400-70792000	Weak transcription	Primary B cells from cord blood	blood
43	chr14:70789400-70798600	Weak transcription	Fetal Brain Female	brain
44	chr14:70789400-70798600	Weak transcription	Fetal Stomach	stomach
45	chr14:70789400-70798600	Weak transcription	Spleen	Spleen
46	chr14:70789400-70798800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:70789400-70799000	Weak transcription	Right Ventricle	heart
48	chr14:70789600-70791800	Weak transcription	Primary T cells from cord blood	blood
49	chr14:70789600-70791800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:70789600-70792000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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