Variant report

Variant	rs13232695
Chromosome Location	chr7:104536482-104536483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10247369	0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808135	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667927	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173	0.83[TSI][hapmap]
rs2041830	0.92[CEU][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs2214083	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2430483	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2470934	0.89[ASN][1000 genomes]
rs2891785	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.92[LWK][hapmap];0.84[MEX][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34477839	0.89[EUR][1000 genomes]
rs3815553	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs62485455	0.89[EUR][1000 genomes]
rs6950960	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs735443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs741323	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv981792	chr7:104524351-104538104	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13232695	POLR2J	cis	parietal	SCAN
rs13232695	EPHB4	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104524800-104540800	Weak transcription	Brain Anterior Caudate	brain
2	chr7:104525400-104540400	Weak transcription	Brain Substantia Nigra	brain
3	chr7:104527800-104539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:104531400-104541800	Weak transcription	Pancreas	Pancrea
5	chr7:104531400-104542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:104534400-104537000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:104534400-104537200	Genic enhancers	Fetal Intestine Small	intestine
8	chr7:104534600-104538200	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:104534600-104538400	Flanking Active TSS	GM12878-XiMat	blood
10	chr7:104535000-104536600	Enhancers	Fetal Intestine Large	intestine
11	chr7:104535000-104539800	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:104535000-104557000	Weak transcription	Fetal Kidney	kidney
13	chr7:104535400-104537800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:104535600-104537000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:104535600-104538000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:104535600-104542400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:104535800-104537200	Enhancers	Small Intestine	intestine
18	chr7:104536400-104536600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:104536400-104537000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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