Variant report

Variant	rs4452825
Chromosome Location	chr8:121412141-121412142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10098436	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10109431	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955971	0.93[ASN][1000 genomes]
rs1129080	0.95[ASN][1000 genomes]
rs1129353	0.95[ASN][1000 genomes]
rs11780830	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11781786	0.98[ASN][1000 genomes]
rs12545308	0.95[ASN][1000 genomes]
rs12546007	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12674727	0.95[ASN][1000 genomes]
rs12675235	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676755	0.92[ASN][1000 genomes]
rs12678531	0.96[ASN][1000 genomes]
rs12678788	0.98[ASN][1000 genomes]
rs12680641	0.92[ASN][1000 genomes]
rs13252173	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263962	1.00[ASN][1000 genomes]
rs16893976	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2429	0.95[ASN][1000 genomes]
rs4242313	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4448321	0.97[ASN][1000 genomes]
rs4463470	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4565499	0.96[ASN][1000 genomes]
rs4573322	0.97[ASN][1000 genomes]
rs4590476	0.95[ASN][1000 genomes]
rs4871067	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61203971	0.98[ASN][1000 genomes]
rs61424477	0.83[ASN][1000 genomes]
rs6415474	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469920	0.93[ASN][1000 genomes]
rs6469921	0.93[ASN][1000 genomes]
rs6984090	0.98[ASN][1000 genomes]
rs6985660	0.98[ASN][1000 genomes]
rs7002445	0.98[ASN][1000 genomes]
rs7015443	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73315165	0.98[ASN][1000 genomes]
rs73315171	0.98[ASN][1000 genomes]
rs73315174	0.96[ASN][1000 genomes]
rs73315182	0.96[ASN][1000 genomes]
rs7812590	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814949	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818026	1.00[ASN][1000 genomes]
rs7819405	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7826906	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7832933	0.94[ASN][1000 genomes]
rs7834496	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7835198	0.95[ASN][1000 genomes]
rs7835363	0.95[ASN][1000 genomes]
rs9297619	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9650081	0.97[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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121396800-121416800	Weak transcription	Aorta	Aorta
2	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
3	chr8:121402200-121415600	Weak transcription	Esophagus	oesophagus
4	chr8:121402200-121416200	Weak transcription	Stomach Mucosa	stomach
5	chr8:121403600-121412400	Weak transcription	Fetal Brain Male	brain
6	chr8:121404000-121433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:121404400-121421400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
10	chr8:121404800-121416600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:121405200-121414400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:121405800-121412200	Weak transcription	Fetal Kidney	kidney
15	chr8:121406800-121415000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:121407800-121412200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:121407800-121417400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:121407800-121424600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:121407800-121442800	Weak transcription	NHEK	skin
20	chr8:121408000-121412200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:121408000-121412200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:121408000-121416200	Weak transcription	HUVEC	blood vessel
23	chr8:121408200-121412400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
25	chr8:121408400-121415400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:121408400-121415600	Weak transcription	K562	blood
27	chr8:121408400-121416200	Weak transcription	Hela-S3	cervix
28	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:121409400-121415600	Weak transcription	Pancreas	Pancrea
30	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
31	chr8:121410000-121412200	Weak transcription	HMEC	breast
32	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:121410400-121412200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:121410400-121416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:121410400-121417200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:121410600-121412200	Weak transcription	HSMM	muscle
38	chr8:121410600-121412400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:121410600-121413200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:121410600-121415600	Weak transcription	Left Ventricle	heart
41	chr8:121410600-121415600	Weak transcription	Lung	lung
42	chr8:121410600-121416600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:121410600-121416800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:121410600-121423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:121410600-121423000	Weak transcription	Thymus	Thymus
46	chr8:121410600-121456600	Weak transcription	Gastric	stomach
47	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
48	chr8:121410800-121412200	Weak transcription	Adipose Nuclei	Adipose
49	chr8:121410800-121412200	Weak transcription	Liver	Liver
50	chr8:121410800-121412400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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