Variant report

Variant	rs12671250
Chromosome Location	chr7:12284475-12284476
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12250897..12251789-chr7:12283782..12284744,2	MCF-7	breast:
2	chr7:12273399..12275539-chr7:12283095..12285753,2	K562	blood:

Variant related genes	Relation type
ENSG00000106460	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1019306	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1019308	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1020005	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1020006	0.87[ASN][1000 genomes]
rs10234805	0.87[ASN][1000 genomes]
rs10278257	0.87[ASN][1000 genomes]
rs10281425	0.91[ASN][1000 genomes]
rs1042949	0.91[ASN][1000 genomes]
rs1054168	0.91[ASN][1000 genomes]
rs1054169	0.91[ASN][1000 genomes]
rs1060700	0.91[ASN][1000 genomes]
rs10950391	0.89[ASN][1000 genomes]
rs10950392	0.81[ASN][1000 genomes]
rs10950393	0.82[ASN][1000 genomes]
rs10950394	0.86[ASN][1000 genomes]
rs10950395	0.91[ASN][1000 genomes]
rs10950396	0.89[ASN][1000 genomes]
rs11509880	0.89[ASN][1000 genomes]
rs11971133	0.86[ASN][1000 genomes]
rs11974304	0.90[ASN][1000 genomes]
rs11974335	0.89[ASN][1000 genomes]
rs11981005	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12667950	0.89[ASN][1000 genomes]
rs12668625	0.91[ASN][1000 genomes]
rs12669919	0.91[ASN][1000 genomes]
rs12699323	0.87[ASN][1000 genomes]
rs12699324	0.87[ASN][1000 genomes]
rs12699332	0.90[ASN][1000 genomes]
rs12699333	0.91[ASN][1000 genomes]
rs12699338	0.92[ASN][1000 genomes]
rs13229988	0.89[ASN][1000 genomes]
rs13230513	0.89[ASN][1000 genomes]
rs13237518	0.90[ASN][1000 genomes]
rs13237715	0.90[ASN][1000 genomes]
rs1435524	0.89[ASN][1000 genomes]
rs1435525	0.89[ASN][1000 genomes]
rs1435526	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1435527	0.89[ASN][1000 genomes]
rs1435543	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1468801	0.91[ASN][1000 genomes]
rs1468802	0.91[ASN][1000 genomes]
rs1468803	0.90[ASN][1000 genomes]
rs1468804	0.91[ASN][1000 genomes]
rs1548882	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1548884	0.92[ASN][1000 genomes]
rs1990620	0.97[ASN][1000 genomes]
rs1990621	0.97[ASN][1000 genomes]
rs1990622	0.97[ASN][1000 genomes]
rs2043539	0.87[ASN][1000 genomes]
rs2098363	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2160269	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2302633	0.91[ASN][1000 genomes]
rs2302634	0.91[ASN][1000 genomes]
rs2302635	0.91[ASN][1000 genomes]
rs2356065	0.92[ASN][1000 genomes]
rs28549831	0.89[ASN][1000 genomes]
rs3173615	0.91[ASN][1000 genomes]
rs34150432	0.91[ASN][1000 genomes]
rs3800841	0.91[ASN][1000 genomes]
rs3800842	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800843	0.91[ASN][1000 genomes]
rs3800844	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800845	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800847	0.89[ASN][1000 genomes]
rs3815535	0.91[ASN][1000 genomes]
rs3823612	0.87[ASN][1000 genomes]
rs4719302	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4721056	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4721057	0.85[ASN][1000 genomes]
rs4721058	0.89[ASN][1000 genomes]
rs4721059	0.89[ASN][1000 genomes]
rs4721060	0.89[ASN][1000 genomes]
rs4721061	0.89[ASN][1000 genomes]
rs4721064	0.93[ASN][1000 genomes]
rs5011431	0.89[ASN][1000 genomes]
rs5011433	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5011434	0.89[ASN][1000 genomes]
rs5011436	0.90[ASN][1000 genomes]
rs5011438	0.88[ASN][1000 genomes]
rs5011439	0.89[ASN][1000 genomes]
rs6415232	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460895	0.86[ASN][1000 genomes]
rs6460896	0.86[ASN][1000 genomes]
rs6460897	0.86[ASN][1000 genomes]
rs6460898	0.83[ASN][1000 genomes]
rs6460899	0.87[ASN][1000 genomes]
rs6460900	0.87[ASN][1000 genomes]
rs6460901	0.87[ASN][1000 genomes]
rs6460902	0.87[ASN][1000 genomes]
rs6460903	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460905	0.97[ASN][1000 genomes]
rs6460906	0.97[ASN][1000 genomes]
rs6947327	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6948844	0.85[ASN][1000 genomes]
rs6966757	0.89[ASN][1000 genomes]
rs6966915	0.89[ASN][1000 genomes]
rs6974465	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7785087	0.87[ASN][1000 genomes]
rs7785189	0.87[ASN][1000 genomes]
rs7791726	0.97[ASN][1000 genomes]
rs7792410	0.88[ASN][1000 genomes]
rs7797705	0.89[ASN][1000 genomes]
rs7804234	0.89[ASN][1000 genomes]
rs7804433	0.89[ASN][1000 genomes]
rs7804736	0.89[ASN][1000 genomes]
rs7809700	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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
2	chr7:12271800-12289000	Weak transcription	HSMM	muscle
3	chr7:12278600-12284600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:12280000-12295000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:12284000-12284600	Enhancers	Fetal Intestine Small	intestine
6	chr7:12284400-12284600	Enhancers	Liver	Liver
7	chr7:12284400-12284600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:12284400-12285000	Enhancers	Pancreatic Islets	Pancreatic Islet

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