Variant report

Variant	rs28494505
Chromosome Location	chr19:18893811-18893812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18893741..18897746-chr19:18945981..18952333,7	K562	blood:
2	chr19:18893606..18897307-chr19:18942633..18945318,6	K562	blood:
3	chr19:18890374..18892617-chr19:18892731..18895508,2	MCF-7	breast:
4	chr19:18893606..18896824-chr19:18942185..18945318,5	K562	blood:
5	chr19:18879279..18882586-chr19:18891947..18894710,3	MCF-7	breast:
6	chr19:18885317..18890245-chr19:18892616..18897433,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005007	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12609934	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12611313	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12975249	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17757406	0.81[EUR][1000 genomes]
rs1989888	0.88[ASN][1000 genomes]
rs2240014	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3746266	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3787050	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808155	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56090467	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257846	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs730079	0.89[ASN][1000 genomes]
rs739638	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv911295	chr19:18874483-18902592	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv911296	chr19:18874483-18915988	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
2	chr19:18865600-18894600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr19:18865600-18896000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:18873800-18895600	Weak transcription	Ovary	ovary
5	chr19:18873800-18896200	Weak transcription	Brain Angular Gyrus	brain
6	chr19:18880600-18895800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr19:18887400-18895600	Weak transcription	Lung	lung
8	chr19:18887600-18894000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:18887600-18899200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:18887800-18895800	Weak transcription	Pancreas	Pancrea
11	chr19:18888000-18895800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:18888200-18895800	Weak transcription	Gastric	stomach
13	chr19:18888800-18895000	Weak transcription	Spleen	Spleen
14	chr19:18893000-18895400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:18893000-18896200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:18893200-18894000	Bivalent Enhancer	HepG2	liver
17	chr19:18893400-18895200	Weak transcription	Fetal Intestine Small	intestine
18	chr19:18893400-18895400	Weak transcription	HSMMtube	muscle
19	chr19:18893600-18894000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:18893600-18894200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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