Variant report

Variant	rs1358299
Chromosome Location	chr2:178767800-178767801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10168605	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10170290	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10171247	0.97[AFR][1000 genomes]
rs10174604	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10181377	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10182833	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10183144	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10186239	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10189134	1.00[AFR][1000 genomes]
rs10192990	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10193299	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10195497	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10197329	0.95[AFR][1000 genomes]
rs10198681	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10198877	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10221783	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10221806	0.99[AFR][1000 genomes]
rs12151755	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693123	0.87[AFR][1000 genomes]
rs12693127	1.00[AFR][1000 genomes]
rs12693128	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693133	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693145	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12988331	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12995449	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13003683	1.00[ASN][1000 genomes]
rs13010993	0.90[AFR][1000 genomes]
rs13015148	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13388218	0.99[AFR][1000 genomes]
rs13393722	0.86[AFR][1000 genomes]
rs13396207	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13410185	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13419437	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13427912	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13428032	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16865818	0.82[ASN][1000 genomes]
rs16865821	0.82[ASN][1000 genomes]
rs17329742	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17401468	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17401650	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17401671	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34596457	0.82[AFR][1000 genomes]
rs35267683	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35385829	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35625771	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35758079	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770053	0.82[ASN][1000 genomes]
rs6738614	0.87[AFR][1000 genomes]
rs71423515	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71423518	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71423519	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7561059	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7575322	1.00[AFR][1000 genomes]
rs9288011	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9989802	0.99[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv2756313	chr2:178750158-178768683	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2754225	chr2:178750493-178768493	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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
9	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
10	esv2755624	chr2:178767493-178768493	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 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	chr2:178765600-178768200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:178765800-178774200	Weak transcription	HMEC	breast
5	chr2:178765800-178774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:178766600-178768000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:178766600-178768600	Enhancers	Fetal Heart	heart
8	chr2:178766600-178772600	Weak transcription	NHEK	skin
9	chr2:178767000-178770600	Weak transcription	Liver	Liver
10	chr2:178767200-178767800	Enhancers	Stomach Mucosa	stomach
11	chr2:178767200-178768000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:178767200-178768200	Enhancers	Adipose Nuclei	Adipose
13	chr2:178767200-178768200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:178767200-178768600	Enhancers	Psoas Muscle	Psoas
15	chr2:178767200-178768600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:178767400-178768000	Enhancers	Ovary	ovary
17	chr2:178767400-178768600	Enhancers	Left Ventricle	heart
18	chr2:178767400-178768600	Enhancers	Right Atrium	heart
19	chr2:178767400-178770400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:178767600-178768000	Enhancers	Aorta	Aorta
21	chr2:178767800-178770600	Weak transcription	Stomach Mucosa	stomach

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