Variant report

Variant	rs7786347
Chromosome Location	chr7:138140578-138140579
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10274356	0.97[ASN][1000 genomes]
rs12669629	0.87[ASN][1000 genomes]
rs13229601	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34415266	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757383	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6467773	1.00[ASN][1000 genomes]
rs752158	0.80[ASN][1000 genomes]
rs7798391	0.96[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7786347	ADCK2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138138400-138142400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:138140000-138140600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr7:138140000-138140600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:138140000-138141200	Enhancers	Liver	Liver
5	chr7:138140000-138141400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:138140000-138141400	Enhancers	HepG2	liver
7	chr7:138140200-138140600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:138140200-138140600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:138140200-138140600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:138140200-138140600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:138140200-138140600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:138140200-138140600	Enhancers	Fetal Intestine Large	intestine
13	chr7:138140200-138140800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:138140200-138141000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:138140200-138141000	Enhancers	Fetal Intestine Small	intestine
16	chr7:138140200-138141200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:138140200-138141400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:138140400-138141000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:138140400-138141200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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