Variant report

Variant	rs7131852
Chromosome Location	chr12:66929800-66929801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10748048	0.87[EUR][1000 genomes]
rs10748052	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10784550	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10784553	0.92[CEU][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10878443	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10878444	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10878445	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11176242	0.92[CEU][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11835094	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12099827	0.91[EUR][1000 genomes]
rs12316942	0.92[CEU][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1389329	1.00[CEU][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1493483	0.91[EUR][1000 genomes]
rs2904513	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4322492	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4544083	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4583057	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4644700	0.92[EUR][1000 genomes]
rs4913320	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7294896	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7298223	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7973560	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs903087	1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs903088	0.92[CEU][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs931515	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs987562	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2757508	chr12:66905405-66980180	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2759906	chr12:66905405-66980180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv518007	chr12:66922606-66935080	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7131852	XPOT	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66910200-66932800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:66911400-66938200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:66921000-66933000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:66925600-66932200	Weak transcription	Fetal Brain Male	brain
5	chr12:66926600-66929800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:66926600-66931000	Weak transcription	Fetal Brain Female	brain
7	chr12:66926600-66932800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:66926600-66933000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:66926800-66930200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:66928800-66930000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:66928800-66933000	Weak transcription	Pancreas	Pancrea
12	chr12:66929400-66930200	Enhancers	Fetal Intestine Small	intestine
13	chr12:66929600-66930400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:66929800-66930400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:66929800-66930400	Enhancers	H9 Cell Line	embryonic stem cell

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