Variant report

Variant	rs12730514
Chromosome Location	chr1:192679228-192679229
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs12724227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729923	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12731540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733584	1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734103	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12743947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747575	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749077	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12749254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751300	0.89[AFR][1000 genomes]
rs12751942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12752676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754700	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12754879	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12755754	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757567	0.83[EUR][1000 genomes]
rs16834649	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16834654	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834657	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834665	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16834668	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834688	1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834698	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16834703	0.83[EUR][1000 genomes]
rs16834706	0.83[EUR][1000 genomes]
rs17583672	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17585105	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17585265	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933703	1.00[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1933704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146609	1.00[CEU][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs33945715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34097781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100239	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34113351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34192146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34208957	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34347367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34348864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349890	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34373724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34494529	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34495773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34539703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34624213	0.83[EUR][1000 genomes]
rs34725057	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34823827	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34889140	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34960843	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34987447	0.83[EUR][1000 genomes]
rs35103963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35164338	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35234624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35431149	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35491260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35511097	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35555343	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35556099	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35557412	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35679411	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35766898	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35918607	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs36034041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36057899	0.92[EUR][1000 genomes]
rs36082277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36087525	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36090855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36125019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4995860	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4995861	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56073640	0.83[EUR][1000 genomes]
rs59228642	0.83[EUR][1000 genomes]
rs6656146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673110	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691305	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639163	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs71639164	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs71639165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639166	0.85[AFR][1000 genomes]
rs71639168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639171	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs71639172	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639173	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639174	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130459	0.83[EUR][1000 genomes]
rs74130460	0.83[EUR][1000 genomes]
rs74130461	0.83[EUR][1000 genomes]
rs74130462	0.83[EUR][1000 genomes]
rs74130463	0.83[EUR][1000 genomes]
rs74130464	0.83[EUR][1000 genomes]
rs74130467	0.83[EUR][1000 genomes]
rs9287125	1.00[JPT][hapmap]

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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv3321003	chr1:192674884-192683739	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3321001	chr1:192674886-192683763	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3321002	chr1:192674954-192683702	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3321004	chr1:192674954-192683702	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv18975	chr1:192675218-192683546	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv947459	chr1:192676062-192682340	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192676600-192679400	Enhancers	HepG2	liver
2	chr1:192677000-192682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:192677200-192680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:192677400-192680000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:192677400-192683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:192677800-192682800	Weak transcription	HMEC	breast
7	chr1:192678200-192680200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:192678200-192681000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:192678400-192679400	Enhancers	HSMMtube	muscle
10	chr1:192678400-192679600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:192678600-192680000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:192678800-192679600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:192679000-192680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:192679000-192683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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