Variant report

Variant	rs60978422
Chromosome Location	chr18:29530900-29530901
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28503280	1.00[AMR][1000 genomes]
rs59782671	1.00[AMR][1000 genomes]
rs61417715	1.00[AMR][1000 genomes]
rs7232263	1.00[AMR][1000 genomes]
rs73409458	1.00[AMR][1000 genomes]
rs9949181	1.00[AMR][1000 genomes]
rs9962924	1.00[AMR][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	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29525600-29537400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr18:29528800-29533400	Weak transcription	K562	blood
3	chr18:29530000-29531000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr18:29530000-29531400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr18:29530000-29532400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:29530000-29532600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:29530200-29531000	Enhancers	HepG2	liver
8	chr18:29530200-29531200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:29530400-29531000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr18:29530400-29531200	Enhancers	Fetal Intestine Small	intestine
11	chr18:29530400-29532000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:29530600-29531000	Enhancers	Fetal Intestine Large	intestine
13	chr18:29530600-29531200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:29530800-29531400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr18:29530800-29534400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:29530800-29534600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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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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