Variant report

Variant	rs12454319
Chromosome Location	chr18:8971368-8971369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10775445	0.81[ASN][1000 genomes]
rs12454318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127878	0.82[ASN][1000 genomes]
rs2170299	0.82[ASN][1000 genomes]
rs9964650	0.85[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8961800-8982400	Weak transcription	NHDF-Ad	bronchial
2	chr18:8963800-8982200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8969000-8971400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:8970000-8971400	Enhancers	Colon Smooth Muscle	Colon
5	chr18:8970000-8972400	Enhancers	K562	blood
6	chr18:8970200-8971400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:8970400-8972000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:8970600-8971600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr18:8970600-8972200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:8970800-8972200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:8970800-8976400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:8971200-8971600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:8971200-8973800	Weak transcription	Rectal Smooth Muscle	rectum

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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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