Variant report

Variant	rs66932244
Chromosome Location	chr4:106327612-106327613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1017988	1.00[ASN][1000 genomes]
rs1077526	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1126066	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035461	0.85[EUR][1000 genomes]
rs17035475	0.81[AMR][1000 genomes]
rs17035478	0.81[AMR][1000 genomes]
rs17035550	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035553	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035557	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035558	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035581	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035584	1.00[ASN][1000 genomes]
rs17035586	1.00[ASN][1000 genomes]
rs17035619	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509136	1.00[ASN][1000 genomes]
rs2004290	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28561818	0.81[AMR][1000 genomes]
rs34628486	0.81[AMR][1000 genomes]
rs3898404	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41438151	0.81[AMR][1000 genomes]
rs4499701	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698937	0.81[AMR][1000 genomes]
rs4699169	0.81[AMR][1000 genomes]
rs4699172	0.81[AMR][1000 genomes]
rs55652556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55755102	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758341	0.81[AMR][1000 genomes]
rs55874621	1.00[ASN][1000 genomes]
rs56184249	0.81[AMR][1000 genomes]
rs56387770	0.81[AMR][1000 genomes]
rs56397029	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58566149	0.81[AMR][1000 genomes]
rs59738222	0.81[AMR][1000 genomes]
rs59902936	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59939789	0.81[AMR][1000 genomes]
rs62317353	1.00[ASN][1000 genomes]
rs6533188	0.81[AMR][1000 genomes]
rs6533194	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66517713	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66763438	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66867451	0.81[AMR][1000 genomes]
rs66956902	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66988826	1.00[ASN][1000 genomes]
rs67075366	0.81[AMR][1000 genomes]
rs67104841	0.81[AMR][1000 genomes]
rs67124324	0.81[AMR][1000 genomes]
rs67248885	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67457538	0.81[AMR][1000 genomes]
rs67476913	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67554145	1.00[ASN][1000 genomes]
rs6811159	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68146425	0.81[AMR][1000 genomes]
rs6829168	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856615	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857688	0.86[EUR][1000 genomes]
rs72665984	0.81[AMR][1000 genomes]
rs72668208	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668215	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668219	1.00[ASN][1000 genomes]
rs72668239	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656023	0.81[AMR][1000 genomes]
rs7673307	0.81[AMR][1000 genomes]
rs7678439	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106253800-106343000	Weak transcription	Psoas Muscle	Psoas
2	chr4:106274800-106330400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:106279000-106339600	Weak transcription	HSMMtube	muscle
4	chr4:106279000-106347400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:106280000-106344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:106282600-106335600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:106283600-106330000	Weak transcription	Right Ventricle	heart
8	chr4:106287000-106335800	Weak transcription	Colonic Mucosa	Colon
9	chr4:106287600-106335600	Weak transcription	Esophagus	oesophagus
10	chr4:106287600-106357000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:106287800-106330200	Weak transcription	Gastric	stomach
12	chr4:106287800-106335400	Weak transcription	Spleen	Spleen
13	chr4:106287800-106335800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:106287800-106347600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:106288400-106330200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:106288400-106330200	Weak transcription	Lung	lung
17	chr4:106288600-106335400	Weak transcription	Thymus	Thymus
18	chr4:106289600-106335400	Weak transcription	Brain Anterior Caudate	brain
19	chr4:106290000-106347400	Weak transcription	Fetal Kidney	kidney
20	chr4:106290800-106345800	Weak transcription	K562	blood
21	chr4:106293400-106330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:106304400-106330400	Weak transcription	Fetal Stomach	stomach
23	chr4:106304400-106335600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:106306400-106335200	Weak transcription	Placenta	Placenta
25	chr4:106306400-106335400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:106306400-106335400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:106308400-106335800	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:106309400-106351000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:106312400-106335600	Weak transcription	Ovary	ovary
30	chr4:106314600-106335600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:106315600-106330200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:106315600-106335400	Weak transcription	Pancreas	Pancrea
33	chr4:106316200-106330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:106316800-106330200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr4:106317600-106336000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:106319000-106330200	Weak transcription	Aorta	Aorta
37	chr4:106320800-106328200	Weak transcription	Adipose Nuclei	Adipose
38	chr4:106320800-106335600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:106320800-106335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:106320800-106342800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:106320800-106342800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:106321000-106330200	Weak transcription	HSMM	muscle
43	chr4:106321000-106343600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:106321000-106346000	Weak transcription	Hela-S3	cervix
45	chr4:106321200-106335600	Weak transcription	Left Ventricle	heart
46	chr4:106321400-106328800	Weak transcription	NHEK	skin
47	chr4:106321400-106367200	Weak transcription	HUVEC	blood vessel
48	chr4:106321600-106341800	Weak transcription	NH-A	brain
49	chr4:106321600-106356200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:106321800-106335600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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