Variant report

Variant	rs2347989
Chromosome Location	chr7:47682566-47682567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11765333	0.80[EUR][1000 genomes]
rs11765367	0.85[EUR][1000 genomes]
rs2347988	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720601	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724604	0.82[EUR][1000 genomes]
rs7803396	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2347989	CDC14C	cis	parietal	SCAN
rs2347989	C7orf72	cis	parietal	SCAN
rs2347989	FIGNL1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47676000-47686600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:47676800-47686800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:47677000-47687000	Weak transcription	NHLF	lung
4	chr7:47678600-47687000	Weak transcription	Spleen	Spleen
5	chr7:47680800-47684600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:47680800-47684600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:47680800-47686400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:47680800-47686600	Weak transcription	Fetal Heart	heart
9	chr7:47681200-47686600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:47681400-47686600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:47681600-47686600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:47681800-47686200	Weak transcription	A549	lung
13	chr7:47681800-47687200	Weak transcription	Osteobl	bone

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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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