Variant report

Variant	rs1427334
Chromosome Location	chr2:182713162-182713163
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	chr2:182713154..182714930-chr2:182753122..182755822,2	K562	blood:
2	chr2:182708528..182710954-chr2:182712417..182715182,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10165936	1.00[CEU][hapmap]
rs10173114	1.00[CEU][hapmap]
rs10176061	1.00[CEU][hapmap]
rs10176571	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176613	1.00[CEU][hapmap]
rs10176757	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs10177346	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10179363	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs10179547	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs10199645	1.00[CEU][hapmap]
rs10200243	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs10201303	1.00[CEU][hapmap]
rs10205426	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10210215	1.00[CEU][hapmap]
rs10221891	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs12620859	0.83[EUR][1000 genomes]
rs13399544	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13404156	1.00[CEU][hapmap]
rs13419200	0.80[MEX][hapmap]
rs13423165	0.88[EUR][1000 genomes]
rs13425734	1.00[CEU][hapmap]
rs1365805	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1365806	0.84[AMR][1000 genomes]
rs1427332	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1528024	1.00[CEU][hapmap]
rs1528025	1.00[CEU][hapmap]
rs1528027	1.00[CEU][hapmap]
rs16867498	1.00[CEU][hapmap]
rs16867500	0.91[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs16867509	1.00[CEU][hapmap]
rs1863687	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881158	1.00[CEU][hapmap]
rs1881159	1.00[CEU][hapmap]
rs2059702	1.00[CEU][hapmap]
rs2288330	1.00[CEU][hapmap]
rs2303554	1.00[CEU][hapmap]
rs2368224	1.00[CEU][hapmap]
rs3731693	1.00[CEU][hapmap]
rs3815877	1.00[CEU][hapmap]
rs3815878	1.00[CEU][hapmap]
rs6433934	0.82[AMR][1000 genomes]
rs6433943	1.00[CEU][hapmap];0.90[GIH][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap]
rs6707164	1.00[CEU][hapmap]
rs6720109	1.00[CEU][hapmap]
rs6720702	1.00[CEU][hapmap]
rs6734324	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6735322	1.00[CEU][hapmap]
rs6736766	1.00[CEU][hapmap]
rs6748354	1.00[CEU][hapmap]
rs6751685	1.00[CEU][hapmap]
rs6754192	1.00[CEU][hapmap]
rs6755017	1.00[CEU][hapmap]
rs73032649	0.84[AMR][1000 genomes]
rs7557969	1.00[CEU][hapmap]
rs7562680	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs7580410	1.00[CEU][hapmap]
rs7599951	0.83[AMR][1000 genomes]
rs7603721	1.00[CEU][hapmap]
rs7608942	1.00[CEU][hapmap]
rs9807949	1.00[CEU][hapmap]
rs9808112	1.00[CEU][hapmap]

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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1427334	LOC647288///LOC730587	trans	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182703200-182717200	Weak transcription	Pancreas	Pancrea
2	chr2:182709400-182713400	Enhancers	Brain Substantia Nigra	brain
3	chr2:182709600-182714600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:182709800-182714400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:182710400-182717800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:182710800-182714200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:182710800-182714400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:182711200-182715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:182711200-182715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:182711400-182713200	Enhancers	Brain Angular Gyrus	brain
11	chr2:182711400-182714600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:182711600-182713200	Enhancers	Fetal Kidney	kidney
13	chr2:182711800-182714800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:182712000-182713200	Enhancers	Fetal Stomach	stomach
15	chr2:182712000-182715000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:182712200-182713200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:182712200-182714400	Weak transcription	HSMMtube	muscle
18	chr2:182712400-182713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:182712400-182714000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:182712400-182715200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:182712600-182713400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:182712600-182713600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:182712600-182714000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:182712600-182714800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:182712800-182713400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:182712800-182714400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:182712800-182716600	Enhancers	Brain Hippocampus Middle	brain
28	chr2:182713000-182713400	Enhancers	Brain Anterior Caudate	brain
29	chr2:182713000-182713400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:182713000-182713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:182713000-182714800	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links