Variant report

Variant	rs7974460
Chromosome Location	chr12:44783123-44783124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10506248	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320849	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1622682	1.00[CHD][hapmap]
rs1625442	1.00[CHD][hapmap]
rs1643432	1.00[CHD][hapmap]
rs1644007	1.00[CHD][hapmap]
rs1644014	1.00[CHD][hapmap]
rs17094494	0.92[EUR][1000 genomes]
rs17121314	0.90[EUR][1000 genomes]
rs1726887	1.00[CHD][hapmap]
rs1798020	1.00[CHD][hapmap]
rs1798027	1.00[CHD][hapmap]
rs1798033	0.81[AMR][1000 genomes]
rs2068103	0.92[EUR][1000 genomes]
rs55923007	0.84[EUR][1000 genomes]
rs57673436	0.92[EUR][1000 genomes]
rs61035347	1.00[EUR][1000 genomes]
rs7310784	0.92[EUR][1000 genomes]
rs7310993	0.92[EUR][1000 genomes]
rs74085178	0.87[EUR][1000 genomes]
rs7955106	1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs840772	1.00[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine
2	chr12:44770000-44784400	Weak transcription	Pancreas	Pancrea
3	chr12:44770000-44785200	Weak transcription	Adipose Nuclei	Adipose
4	chr12:44772400-44787000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44775400-44783200	Weak transcription	Fetal Brain Female	brain
6	chr12:44775600-44783800	Weak transcription	Fetal Heart	heart
7	chr12:44780800-44784400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:44781000-44784200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:44781200-44783600	Weak transcription	HSMM	muscle
10	chr12:44782400-44784000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:44783000-44789400	Weak transcription	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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