Variant report

Variant	rs4318407
Chromosome Location	chr2:151112873-151112874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10170246	0.92[EUR][1000 genomes]
rs10174836	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10184785	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10190277	0.84[ASN][1000 genomes]
rs10195650	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10207680	0.95[EUR][1000 genomes]
rs1031212	0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1031213	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1031214	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1031215	0.92[EUR][1000 genomes]
rs1031216	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930038	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1155072	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11682154	0.92[EUR][1000 genomes]
rs11687868	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11694747	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886061	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11886070	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12692632	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12692633	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12692644	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12986816	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12996112	0.92[EUR][1000 genomes]
rs13024074	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13024803	0.83[EUR][1000 genomes]
rs13028397	0.92[EUR][1000 genomes]
rs13419478	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13430267	0.87[EUR][1000 genomes]
rs1348741	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1374157	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2376603	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4260269	0.85[EUR][1000 genomes]
rs4283445	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4295034	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4296450	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4434022	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4435478	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4461280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464296	0.96[EUR][1000 genomes]
rs4481007	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4560135	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4597551	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4597552	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4600677	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4629182	0.83[EUR][1000 genomes]
rs4667341	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667343	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62170020	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432680	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6432682	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432683	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432700	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6650776	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6733918	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7422660	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7557353	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7564853	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7566441	0.95[EUR][1000 genomes]
rs7569176	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7575612	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7580941	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7581265	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7581723	0.85[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7586530	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592745	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7600792	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7604483	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs974902	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151111400-151113200	Enhancers	Ovary	ovary
2	chr2:151111600-151113200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:151111600-151113200	Enhancers	NHDF-Ad	bronchial
4	chr2:151111600-151113600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:151111600-151113600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:151111600-151113800	Enhancers	NHLF	lung
7	chr2:151111800-151113000	Enhancers	Liver	Liver
8	chr2:151111800-151116400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:151112000-151113000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:151112000-151113000	Enhancers	Adipose Nuclei	Adipose
11	chr2:151112000-151113000	Enhancers	Colon Smooth Muscle	Colon
12	chr2:151112000-151113400	Enhancers	Fetal Stomach	stomach
13	chr2:151112000-151113600	Enhancers	Fetal Lung	lung
14	chr2:151112200-151113000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:151112200-151113000	Enhancers	Right Atrium	heart
16	chr2:151112200-151113000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:151112200-151113000	Enhancers	HSMM	muscle
18	chr2:151112200-151113200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:151112200-151113200	Enhancers	HSMMtube	muscle
20	chr2:151112200-151113600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:151112200-151115000	Enhancers	Brain Germinal Matrix	brain
22	chr2:151112600-151113000	Enhancers	Fetal Muscle Leg	muscle
23	chr2:151112800-151113000	Enhancers	Fetal Brain Male	brain
24	chr2:151112800-151117600	Enhancers	Cortex derived primary cultured neurospheres	brain

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