Variant report

Variant	rs7313422
Chromosome Location	chr12:20746037-20746038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10734705	0.85[YRI][hapmap]
rs10743381	0.85[YRI][hapmap]
rs10770678	0.82[YRI][hapmap]
rs4131319	0.92[AFR][1000 genomes]
rs4369460	0.85[YRI][hapmap]
rs4508254	0.83[YRI][hapmap]
rs4576873	0.84[AFR][1000 genomes]
rs6487109	0.84[AFR][1000 genomes]
rs6487110	0.84[AFR][1000 genomes]
rs7136256	0.82[YRI][hapmap]
rs7315045	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20706800-20746400	Weak transcription	Fetal Intestine Small	intestine
2	chr12:20710400-20754800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:20741400-20746200	Weak transcription	Fetal Stomach	stomach
4	chr12:20741400-20752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:20742600-20753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:20743600-20756000	Weak transcription	Left Ventricle	heart
7	chr12:20744600-20752200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:20745000-20746200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:20745000-20746800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:20745600-20746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:20745600-20751800	Weak transcription	A549	lung
12	chr12:20745600-20751800	Weak transcription	Hela-S3	cervix

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

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