Variant report

Variant	rs1358300
Chromosome Location	chr2:178770184-178770185
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	chr2:178746834..178749681-chr2:178770158..178771750,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1020011	1.00[EUR][1000 genomes]
rs11686720	1.00[EUR][1000 genomes]
rs12613904	1.00[EUR][1000 genomes]
rs12620627	1.00[EUR][1000 genomes]
rs1344924	1.00[EUR][1000 genomes]
rs1369518	1.00[EUR][1000 genomes]
rs1527288	1.00[EUR][1000 genomes]
rs16865743	1.00[EUR][1000 genomes]
rs2117739	1.00[EUR][1000 genomes]
rs2164330	1.00[EUR][1000 genomes]
rs2366352	1.00[EUR][1000 genomes]
rs2886653	1.00[EUR][1000 genomes]
rs57026464	1.00[EUR][1000 genomes]
rs57986087	1.00[EUR][1000 genomes]
rs58471763	1.00[EUR][1000 genomes]
rs59572353	1.00[EUR][1000 genomes]
rs61560417	1.00[EUR][1000 genomes]
rs6433707	1.00[AMR][1000 genomes]
rs6433711	1.00[EUR][1000 genomes]
rs6706521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6729893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761951	1.00[EUR][1000 genomes]
rs73028314	1.00[EUR][1000 genomes]
rs73028315	1.00[EUR][1000 genomes]
rs73028326	1.00[EUR][1000 genomes]
rs73028333	1.00[EUR][1000 genomes]
rs73028337	1.00[EUR][1000 genomes]
rs73028352	1.00[EUR][1000 genomes]
rs73028355	1.00[EUR][1000 genomes]
rs73030318	1.00[EUR][1000 genomes]
rs73030323	1.00[EUR][1000 genomes]
rs73030331	1.00[EUR][1000 genomes]
rs73030336	1.00[EUR][1000 genomes]
rs73030347	1.00[EUR][1000 genomes]
rs73030350	1.00[EUR][1000 genomes]
rs73030357	1.00[EUR][1000 genomes]
rs73030362	1.00[EUR][1000 genomes]
rs73032055	1.00[EUR][1000 genomes]
rs73032059	1.00[EUR][1000 genomes]
rs73032072	1.00[EUR][1000 genomes]
rs73038286	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038297	1.00[AMR][1000 genomes]
rs9288012	1.00[EUR][1000 genomes]
rs9288013	1.00[EUR][1000 genomes]
rs934567	1.00[EUR][1000 genomes]
rs959775	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178762400-178770400	Weak transcription	Pancreas	Pancrea
2	chr2:178762600-178772600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:178765800-178774200	Weak transcription	HMEC	breast
4	chr2:178765800-178774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:178766600-178772600	Weak transcription	NHEK	skin
6	chr2:178767000-178770600	Weak transcription	Liver	Liver
7	chr2:178767400-178770400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:178767800-178770600	Weak transcription	Stomach Mucosa	stomach
9	chr2:178768000-178770800	Weak transcription	Ovary	ovary
10	chr2:178768000-178773000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:178768200-178770400	Weak transcription	Adipose Nuclei	Adipose
12	chr2:178768200-178774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:178768600-178770200	Weak transcription	Fetal Heart	heart
14	chr2:178768600-178770800	Weak transcription	Right Atrium	heart
15	chr2:178768600-178773000	Weak transcription	Left Ventricle	heart
16	chr2:178768600-178780000	Weak transcription	Psoas Muscle	Psoas

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