Variant report

Variant	rs67554145
Chromosome Location	chr4:106380644-106380645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106375361..106377809-chr4:106379253..106381049,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1017988	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1077526	1.00[ASN][1000 genomes]
rs1126066	1.00[ASN][1000 genomes]
rs1391436	0.82[AMR][1000 genomes]
rs1498124	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17035436	0.82[AMR][1000 genomes]
rs17035468	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17035475	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17035478	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17035512	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17035550	1.00[ASN][1000 genomes]
rs17035551	1.00[ASN][1000 genomes]
rs17035553	1.00[ASN][1000 genomes]
rs17035557	1.00[ASN][1000 genomes]
rs17035558	1.00[ASN][1000 genomes]
rs17035568	1.00[ASN][1000 genomes]
rs17035581	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035584	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035586	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035619	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509136	1.00[ASN][1000 genomes]
rs2004290	1.00[ASN][1000 genomes]
rs28561818	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34628486	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3898404	1.00[ASN][1000 genomes]
rs41372153	0.85[AMR][1000 genomes]
rs41438151	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4273475	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4499701	1.00[ASN][1000 genomes]
rs4519798	1.00[ASN][1000 genomes]
rs4560414	0.82[AMR][1000 genomes]
rs4698937	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4698938	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4699169	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4699170	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4699172	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4699173	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55652556	1.00[ASN][1000 genomes]
rs55755102	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758341	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55874621	1.00[ASN][1000 genomes]
rs55998107	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56184249	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56256811	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56387770	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56397029	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58566149	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59738222	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59902936	1.00[ASN][1000 genomes]
rs59939789	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62317353	1.00[ASN][1000 genomes]
rs6533188	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6533194	1.00[ASN][1000 genomes]
rs66517713	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66712969	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66763438	1.00[ASN][1000 genomes]
rs66867451	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66932244	1.00[ASN][1000 genomes]
rs66956902	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66988826	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67075366	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67104841	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67124324	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67209101	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67248885	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67457538	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67476913	1.00[ASN][1000 genomes]
rs67670123	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6811159	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68146425	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6823995	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6829168	1.00[ASN][1000 genomes]
rs6856615	1.00[ASN][1000 genomes]
rs72665979	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72665980	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72665984	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72668208	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668215	1.00[ASN][1000 genomes]
rs72668219	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668239	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72954332	0.83[AFR][1000 genomes]
rs72954351	0.81[AFR][1000 genomes]
rs7656023	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7673307	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7678439	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9942141	0.95[AMR][1000 genomes];0.81[EUR][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	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
2	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
3	nsv1002228	chr4:106346206-106433381	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106327200-106389200	Weak transcription	Small Intestine	intestine
2	chr4:106327200-106390600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:106336800-106387800	Weak transcription	NHLF	lung
4	chr4:106340200-106387800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:106347600-106392800	Weak transcription	Colonic Mucosa	Colon
6	chr4:106348000-106388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:106348200-106387800	Weak transcription	Lung	lung
8	chr4:106348200-106393000	Weak transcription	Thymus	Thymus
9	chr4:106348400-106384200	Weak transcription	Fetal Stomach	stomach
10	chr4:106348600-106384600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:106355400-106393200	Weak transcription	Esophagus	oesophagus
12	chr4:106357200-106381000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:106357200-106381000	Weak transcription	Brain Substantia Nigra	brain
14	chr4:106357200-106387600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:106357200-106392600	Weak transcription	Brain Angular Gyrus	brain
16	chr4:106357600-106392200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:106359000-106382400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:106359000-106387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:106359200-106382200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:106361800-106387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:106362200-106392600	Weak transcription	A549	lung
22	chr4:106363800-106390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:106364400-106384200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:106364600-106382800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:106364600-106392000	Weak transcription	Brain Anterior Caudate	brain
26	chr4:106364600-106392600	Weak transcription	Fetal Kidney	kidney
27	chr4:106365200-106380800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:106365800-106387600	Weak transcription	Placenta	Placenta
29	chr4:106366000-106384600	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:106366000-106392400	Weak transcription	Osteobl	bone
31	chr4:106366000-106392600	Weak transcription	Psoas Muscle	Psoas
32	chr4:106366600-106380800	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:106366600-106392200	Weak transcription	Liver	Liver
34	chr4:106366600-106392200	Weak transcription	HepG2	liver
35	chr4:106366600-106392600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:106366800-106393200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:106367800-106384600	Weak transcription	Fetal Intestine Large	intestine
38	chr4:106368200-106392000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr4:106369400-106388800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:106369600-106388000	Weak transcription	Hela-S3	cervix
41	chr4:106370000-106392600	Weak transcription	HUVEC	blood vessel
42	chr4:106372800-106387200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:106373000-106381600	Weak transcription	Stomach Mucosa	stomach
44	chr4:106373200-106382400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:106373200-106387600	Weak transcription	Fetal Thymus	thymus
46	chr4:106373200-106392600	Weak transcription	NH-A	brain
47	chr4:106373400-106390600	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:106373400-106392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:106374000-106387800	Weak transcription	Ovary	ovary
50	chr4:106374000-106392400	Weak transcription	NHDF-Ad	bronchial

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