Variant report

Variant	rs74112284
Chromosome Location	chr1:119596031-119596032
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119595564..119597854-chr1:119610208..119612001,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17023092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023211	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023317	1.00[AMR][1000 genomes]
rs17023323	1.00[AMR][1000 genomes]
rs56083438	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57667302	1.00[AMR][1000 genomes]
rs60375409	1.00[AMR][1000 genomes]
rs74112264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112509	1.00[AMR][1000 genomes]
rs74112511	1.00[AMR][1000 genomes]
rs74112512	1.00[AMR][1000 genomes]
rs74114807	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114819	1.00[AMR][1000 genomes]
rs74114822	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
4	nsv521813	chr1:119589343-119619448	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119568200-119611200	Weak transcription	Hela-S3	cervix
2	chr1:119571400-119613200	Weak transcription	Pancreas	Pancrea
3	chr1:119571600-119602200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:119571800-119612400	Weak transcription	Gastric	stomach
5	chr1:119573400-119599800	Weak transcription	Fetal Stomach	stomach
6	chr1:119575800-119603200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:119576000-119606200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:119576000-119608400	Weak transcription	Right Ventricle	heart
9	chr1:119576000-119626000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:119576200-119602000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:119576400-119604400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:119577200-119607400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:119579000-119598000	Weak transcription	Fetal Brain Male	brain
14	chr1:119584000-119606600	Weak transcription	Esophagus	oesophagus
15	chr1:119584000-119618000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:119587800-119634200	Weak transcription	Left Ventricle	heart
17	chr1:119588200-119596800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:119588200-119610400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:119588200-119618200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:119588200-119619000	Weak transcription	Liver	Liver
21	chr1:119588400-119607200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:119588400-119620800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:119588600-119613800	Weak transcription	Primary T cells from cord blood	blood
24	chr1:119589800-119622200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:119589800-119629600	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:119590000-119618200	Weak transcription	HSMM	muscle
27	chr1:119590600-119627400	Weak transcription	Aorta	Aorta
28	chr1:119591000-119616400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:119591400-119599800	Weak transcription	Fetal Intestine Small	intestine
30	chr1:119591400-119623200	Weak transcription	Ovary	ovary
31	chr1:119595400-119623200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:119595600-119617600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links