Variant report

Variant	rs12618358
Chromosome Location	chr2:149105710-149105711
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10164630	0.93[ASN][1000 genomes]
rs10181225	0.97[ASN][1000 genomes]
rs10188234	0.97[ASN][1000 genomes]
rs10191789	0.84[ASN][1000 genomes]
rs10196090	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10198939	0.89[ASN][1000 genomes]
rs10199369	0.81[ASN][1000 genomes]
rs10199719	0.81[ASN][1000 genomes]
rs10208839	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10928395	0.89[ASN][1000 genomes]
rs11675979	0.89[EUR][1000 genomes]
rs11678688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs11683219	0.91[EUR][1000 genomes]
rs11686180	0.81[ASN][1000 genomes]
rs12053104	0.89[EUR][1000 genomes]
rs12464334	0.81[ASN][1000 genomes]
rs12465493	0.81[ASN][1000 genomes]
rs12469720	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12470061	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12478120	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12613727	0.84[ASN][1000 genomes]
rs12615490	0.89[ASN][1000 genomes]
rs12616001	0.89[ASN][1000 genomes]
rs12691792	0.84[ASN][1000 genomes]
rs12992721	0.89[ASN][1000 genomes]
rs13427268	0.88[ASN][1000 genomes]
rs1404185	0.97[ASN][1000 genomes]
rs1404186	0.81[ASN][1000 genomes]
rs1404187	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1453317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1453318	0.84[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs17276501	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1869341	0.89[EUR][1000 genomes]
rs1916960	0.95[ASN][1000 genomes]
rs2140606	0.84[ASN][1000 genomes]
rs2167880	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602352	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602358	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2656317	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2656319	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2656320	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2656324	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2656325	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28831467	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2938705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35177340	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35630407	0.89[ASN][1000 genomes]
rs35997635	0.81[ASN][1000 genomes]
rs4972277	0.89[EUR][1000 genomes]
rs4972278	0.91[EUR][1000 genomes]
rs4972347	0.91[EUR][1000 genomes]
rs4972355	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4972358	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183965	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6708633	0.95[ASN][1000 genomes]
rs6723914	0.89[ASN][1000 genomes]
rs6734448	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745934	0.87[ASN][1000 genomes]
rs6748825	0.89[ASN][1000 genomes]
rs6749083	0.81[ASN][1000 genomes]
rs7355758	0.84[ASN][1000 genomes]
rs7425880	0.89[ASN][1000 genomes]
rs7567204	0.97[ASN][1000 genomes]
rs7592019	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7606618	0.97[ASN][1000 genomes]
rs7607930	0.89[ASN][1000 genomes]
rs869595	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949679	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv523090	chr2:149037012-149110873	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1012123	chr2:149078500-149151358	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv583289	chr2:149091754-149170115	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875277	chr2:149094415-149178974	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875278	chr2:149094415-149201775	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149089200-149119400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:149094600-149115400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:149094600-149119800	Weak transcription	Fetal Stomach	stomach
4	chr2:149095200-149110200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:149095600-149107000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:149096800-149120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:149097000-149107600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:149100800-149106000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:149100800-149106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:149100800-149107800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:149100800-149108800	Weak transcription	Small Intestine	intestine
12	chr2:149100800-149109400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:149100800-149109600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:149100800-149110800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:149100800-149111800	Weak transcription	Left Ventricle	heart
16	chr2:149100800-149137000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:149101000-149126000	Weak transcription	Psoas Muscle	Psoas
18	chr2:149101200-149106000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:149101200-149107400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:149101200-149107600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:149101400-149105800	Weak transcription	HSMM	muscle
22	chr2:149101600-149105800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:149101800-149107400	Weak transcription	Fetal Lung	lung
24	chr2:149101800-149115400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:149102200-149110800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:149102600-149109200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:149102800-149136600	Weak transcription	Primary B cells from cord blood	blood
28	chr2:149103600-149111000	Weak transcription	Aorta	Aorta
29	chr2:149103800-149111400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:149105400-149106000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:149105600-149106000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:149105600-149106000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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