Variant report

Variant	rs1271663
Chromosome Location	chr12:31692499-31692500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31692214..31692734-chr8:126444102..126444903,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1012154	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1150942	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1150943	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1150945	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1150950	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150954	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1150955	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1150963	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1259233	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1259235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1259241	0.83[AMR][1000 genomes]
rs1259353	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1259354	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1259355	0.84[ASN][1000 genomes]
rs1259356	0.92[AFR][1000 genomes]
rs1259359	0.88[AFR][1000 genomes]
rs1259400	0.89[EUR][1000 genomes]
rs1259401	0.89[EUR][1000 genomes]
rs1259405	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1259422	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1259423	0.87[EUR][1000 genomes]
rs1259427	0.85[EUR][1000 genomes]
rs1259428	0.84[ASN][1000 genomes]
rs1259430	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1259432	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1259435	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1259437	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1259438	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1259441	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1262390	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1271128	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1272773	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1677154	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1677173	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1677186	0.81[EUR][1000 genomes]
rs1677189	0.83[AFR][1000 genomes]
rs1716216	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2061761	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2568884	0.93[ASN][1000 genomes]
rs2568885	0.85[AFR][1000 genomes]
rs2568888	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2617190	0.93[ASN][1000 genomes]
rs2617200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682671	0.83[AFR][1000 genomes]
rs2682679	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2682697	0.89[ASN][1000 genomes]
rs71440988	0.82[ASN][1000 genomes]
rs793146	0.89[ASN][1000 genomes]
rs793148	0.83[AFR][1000 genomes]
rs793149	0.83[AFR][1000 genomes]
rs793171	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs793173	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs793174	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs793176	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs793177	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs793180	0.89[ASN][1000 genomes]
rs793184	0.93[ASN][1000 genomes]
rs793186	0.83[AFR][1000 genomes]
rs7974437	0.83[EUR][1000 genomes]
rs976874	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	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
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	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
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31685400-31700600	Weak transcription	Aorta	Aorta
2	chr12:31685400-31708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:31686800-31693200	Weak transcription	Fetal Intestine Small	intestine
4	chr12:31686800-31695600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:31688600-31692600	Weak transcription	Fetal Heart	heart
6	chr12:31689000-31713000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:31689200-31692800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:31689200-31694000	Weak transcription	Psoas Muscle	Psoas
9	chr12:31689200-31695800	Weak transcription	Ovary	ovary

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