Variant report

Variant	rs12499716
Chromosome Location	chr4:30929000-30929001
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]
rs12500942	0.94[AMR][1000 genomes]
rs57615189	1.00[AFR][1000 genomes]
rs73812702	1.00[AFR][1000 genomes]
rs73815113	0.89[AFR][1000 genomes]
rs73815168	0.89[AFR][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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30914200-30947200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:30914400-30940600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:30920600-30947400	Weak transcription	Fetal Stomach	stomach
4	chr4:30922000-30935800	Weak transcription	Aorta	Aorta
5	chr4:30922400-30929400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:30922400-30929600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:30922400-30931400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:30922400-30933800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:30922600-30934200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:30923800-30930200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:30924200-30931400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:30926400-30931400	Weak transcription	Fetal Intestine Large	intestine
13	chr4:30927600-30929600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:30927600-30929600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:30928400-30930000	Enhancers	Fetal Heart	heart
16	chr4:30928600-30929000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
18	chr4:30928800-30930200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:30928800-30931400	Weak transcription	Fetal Intestine Small	intestine

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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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