Variant report

Variant	rs8006977
Chromosome Location	chr14:55419670-55419671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10129318	0.88[ASN][1000 genomes]
rs10129802	0.86[ASN][1000 genomes]
rs10139354	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10140164	0.88[ASN][1000 genomes]
rs10148100	0.82[ASN][1000 genomes]
rs10150110	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1107960	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158029	0.87[ASN][1000 genomes]
rs11846514	0.89[ASN][1000 genomes]
rs11846809	0.84[ASN][1000 genomes]
rs12147796	0.87[ASN][1000 genomes]
rs17128120	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17832269	0.94[ASN][1000 genomes]
rs2183085	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2840268	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28446981	0.82[ASN][1000 genomes]
rs28481699	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28693954	0.82[ASN][1000 genomes]
rs2878174	0.86[ASN][1000 genomes]
rs34988865	0.83[ASN][1000 genomes]
rs3783643	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783644	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783645	0.88[ASN][1000 genomes]
rs4325453	0.90[ASN][1000 genomes]
rs56164809	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56206440	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56335168	0.82[ASN][1000 genomes]
rs57667631	0.81[ASN][1000 genomes]
rs57922954	0.82[ASN][1000 genomes]
rs58055971	0.82[ASN][1000 genomes]
rs59323730	0.87[ASN][1000 genomes]
rs61224609	0.85[ASN][1000 genomes]
rs6572992	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6572993	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6572994	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6572997	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66769866	0.89[ASN][1000 genomes]
rs66820631	0.83[ASN][1000 genomes]
rs67395322	0.81[ASN][1000 genomes]
rs67571433	0.89[ASN][1000 genomes]
rs68065548	0.82[ASN][1000 genomes]
rs7146285	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7151670	0.89[ASN][1000 genomes]
rs7153937	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7157085	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159232	0.96[ASN][1000 genomes]
rs7159933	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7159953	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72715573	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8004402	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8005471	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008150	0.87[ASN][1000 genomes]
rs8009997	0.94[ASN][1000 genomes]
rs8011446	0.94[ASN][1000 genomes]
rs8012152	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8013521	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015172	0.95[ASN][1000 genomes]
rs8018800	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019220	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019390	0.87[ASN][1000 genomes]
rs8021303	0.95[ASN][1000 genomes]
rs8021370	0.80[ASN][1000 genomes]
rs8022049	0.89[ASN][1000 genomes]
rs9285583	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323275	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs943914	0.86[ASN][1000 genomes]
rs9805952	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1038242	chr14:55398559-55444839	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3378942	chr14:55412251-55440744	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
2	chr14:55394400-55428800	Weak transcription	HSMM	muscle
3	chr14:55395200-55422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
5	chr14:55403000-55449000	Weak transcription	Gastric	stomach
6	chr14:55403200-55421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:55403200-55442600	Weak transcription	NHEK	skin
8	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
9	chr14:55403400-55421800	Weak transcription	HMEC	breast
10	chr14:55403600-55423800	Weak transcription	K562	blood
11	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel
12	chr14:55404400-55427600	Weak transcription	Primary T cells from cord blood	blood
13	chr14:55405200-55420200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:55407600-55427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:55408000-55421400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:55408000-55423200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:55408400-55423600	Weak transcription	GM12878-XiMat	blood
19	chr14:55408400-55429200	Weak transcription	Fetal Lung	lung
20	chr14:55409800-55423200	Weak transcription	Primary B cells from cord blood	blood
21	chr14:55410000-55427800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
23	chr14:55412200-55427600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:55412400-55453400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:55412600-55433600	Weak transcription	HepG2	liver
26	chr14:55413600-55429400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:55414000-55433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:55414400-55423200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:55414400-55429800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:55415200-55450000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:55415400-55427600	Weak transcription	Fetal Intestine Large	intestine
32	chr14:55415400-55443000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:55415600-55420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:55415600-55423200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:55415600-55423200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr14:55415600-55423400	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:55415600-55424800	Weak transcription	Thymus	Thymus
38	chr14:55415600-55425200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:55415600-55427600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:55415600-55427800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:55415600-55428800	Weak transcription	Hela-S3	cervix
42	chr14:55415800-55423200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:55415800-55427600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:55415800-55427600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:55415800-55427600	Weak transcription	A549	lung
46	chr14:55416000-55420600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:55416000-55420600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:55416000-55420600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:55416000-55420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:55416000-55420800	Weak transcription	Dnd41	blood

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