Variant report

Variant	rs17621345
Chromosome Location	chr7:40875192-40875193
allele	A/C
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:12)

rs_ID	r²[population]
rs1012567	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1012568	0.84[EUR][1000 genomes]
rs10499618	1.00[CHD][hapmap]
rs12701838	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13230202	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17530234	1.00[CHD][hapmap]
rs17621508	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17688583	0.95[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.84[EUR][1000 genomes]
rs17688601	0.95[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap];0.84[EUR][1000 genomes]
rs73689863	0.87[AFR][1000 genomes]
rs73689865	0.87[AFR][1000 genomes]
rs73689876	0.83[AFR][1000 genomes]

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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1827128	chr7:40862370-40886576	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17621345	LOC646999	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40867600-40882600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:40867800-40875800	Weak transcription	NHEK	skin
3	chr7:40867800-40877200	Weak transcription	HSMM	muscle
4	chr7:40868800-40879400	Weak transcription	HSMMtube	muscle
5	chr7:40869800-40879400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:40873600-40879400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:40873800-40879400	Weak transcription	HMEC	breast
8	chr7:40874000-40878000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:40874000-40878000	Weak transcription	NHDF-Ad	bronchial
10	chr7:40874000-40883400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:40874800-40875200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:40874800-40875200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:40875000-40875200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:40875000-40875400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:40875000-40875400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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