Variant report

Variant	rs11975907
Chromosome Location	chr7:19012708-19012709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10486310	1.00[AMR][1000 genomes]
rs11973545	1.00[AMR][1000 genomes]
rs11973923	0.97[AFR][1000 genomes]
rs11978418	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11979779	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11983126	1.00[AMR][1000 genomes]
rs11983879	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[AFR][1000 genomes]
rs73684307	1.00[AMR][1000 genomes]
rs73684652	1.00[AMR][1000 genomes]
rs73684653	1.00[AMR][1000 genomes]
rs7779171	0.82[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032870	chr7:18982862-19021763	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538765	chr7:18982862-19021763	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1792539	chr7:19008728-19012994	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11975907	HECA	trans	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18991400-19025000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:18999400-19016400	Weak transcription	HSMM	muscle
3	chr7:19000800-19017600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:19002000-19014000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:19003800-19016400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:19005400-19016800	Weak transcription	Adipose Nuclei	Adipose
7	chr7:19006200-19014200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:19007000-19014400	Weak transcription	NHDF-Ad	bronchial
9	chr7:19011600-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:19011600-19018800	Enhancers	HMEC	breast
11	chr7:19011600-19018800	Enhancers	NHEK	skin
12	chr7:19011800-19015800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:19012000-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:19012200-19018600	Enhancers	Breast Myoepithelial Primary Cells	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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