Variant report

Variant	rs4600301
Chromosome Location	chr12:31784682-31784683
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10771860	0.93[ASN][1000 genomes]
rs10843975	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10843976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843977	0.91[ASN][1000 genomes]
rs10843980	0.88[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.92[ASN][1000 genomes]
rs10843981	0.90[ASN][1000 genomes]
rs10843982	0.87[ASN][1000 genomes]
rs10843983	0.87[ASN][1000 genomes]
rs10843984	0.90[ASN][1000 genomes]
rs10843985	0.87[ASN][1000 genomes]
rs11051491	0.80[ASN][1000 genomes]
rs11051496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051500	0.81[ASN][1000 genomes]
rs11051505	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs11051506	0.86[ASN][1000 genomes]
rs11051507	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs11051508	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs11051509	0.86[ASN][1000 genomes]
rs11051511	0.82[ASN][1000 genomes]
rs11608917	0.83[ASN][1000 genomes]
rs11608932	0.82[ASN][1000 genomes]
rs12366487	0.92[ASN][1000 genomes]
rs12368226	0.93[ASN][1000 genomes]
rs12370374	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12813290	0.94[CHB][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs2046367	0.87[AMR][1000 genomes]
rs2046368	0.80[ASN][1000 genomes]
rs2374165	0.94[CHB][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap];0.91[ASN][1000 genomes]
rs2374167	0.90[ASN][1000 genomes]
rs2374168	0.93[ASN][1000 genomes]
rs2374170	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2888753	0.94[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.93[ASN][1000 genomes]
rs2888754	0.93[ASN][1000 genomes]
rs34312039	0.92[ASN][1000 genomes]
rs34399504	0.86[ASN][1000 genomes]
rs3844104	0.82[ASN][1000 genomes]
rs3850970	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850971	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3908176	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3908177	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4346052	0.81[AMR][1000 genomes]
rs4931528	0.84[ASN][1000 genomes]
rs4931531	0.90[ASN][1000 genomes]
rs4931532	0.80[YRI][hapmap]
rs4931533	0.94[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.93[ASN][1000 genomes]
rs4999141	0.91[ASN][1000 genomes]
rs55935178	0.82[ASN][1000 genomes]
rs56320129	0.87[ASN][1000 genomes]
rs57741885	0.93[ASN][1000 genomes]
rs61930405	0.87[ASN][1000 genomes]
rs6487997	0.86[ASN][1000 genomes]
rs6487998	0.94[CHB][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs6487999	0.86[ASN][1000 genomes]
rs7299690	0.86[ASN][1000 genomes]
rs7313596	0.83[ASN][1000 genomes]
rs7314164	0.86[ASN][1000 genomes]
rs7959945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962168	0.94[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.93[ASN][1000 genomes]
rs7967222	0.90[ASN][1000 genomes]
rs7974004	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7975093	0.81[AFR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31783400-31784800	Enhancers	Fetal Heart	heart
2	chr12:31783400-31789800	Weak transcription	Placenta	Placenta
3	chr12:31783400-31803000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:31783400-31803000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:31783600-31784800	Weak transcription	K562	blood
6	chr12:31783600-31785000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:31783600-31785000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:31783600-31792600	Weak transcription	Pancreas	Pancrea
9	chr12:31783800-31785400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:31783800-31789600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:31784000-31786200	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:31784200-31786000	Enhancers	Primary B cells from cord blood	blood
13	chr12:31784400-31785600	Enhancers	GM12878-XiMat	blood
14	chr12:31784600-31785000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr12:31784600-31785400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:31784600-31794000	Weak transcription	Ovary	ovary

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