Variant report

Variant	rs12504418
Chromosome Location	chr4:143456937-143456938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10519649	0.88[JPT][hapmap]
rs10857395	1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11728822	0.94[JPT][hapmap]
rs17717651	0.81[JPT][hapmap]
rs2059510	0.86[JPT][hapmap]
rs2162105	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4975306	0.88[JPT][hapmap]
rs67641357	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72726422	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12504418	ELMOD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143438800-143462800	Weak transcription	Aorta	Aorta
2	chr4:143444800-143468400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143452800-143458800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:143453000-143464000	Weak transcription	Fetal Intestine Small	intestine
5	chr4:143453600-143457000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:143453800-143458000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:143453800-143459200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:143454600-143459200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:143455400-143457000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:143456000-143457000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:143456800-143460400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:143456800-143461400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:143456800-143468400	Weak transcription	HMEC	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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