Variant report

Variant	rs12200304
Chromosome Location	chr6:143924008-143924009
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]
rs12194137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2876568	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915651	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496698	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr6:143911200-143929200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:143913200-143928400	Weak transcription	Aorta	Aorta
3	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:143917200-143929000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:143917200-143941400	Weak transcription	Fetal Intestine Large	intestine
6	chr6:143918200-143929200	Weak transcription	Lung	lung
7	chr6:143919800-143930400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:143919800-143930600	Weak transcription	Stomach Mucosa	stomach
9	chr6:143920000-143935200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:143920200-143935000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:143920600-143934800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:143923000-143926400	Weak transcription	Placenta	Placenta
13	chr6:143923200-143924200	Enhancers	Adipose Nuclei	Adipose
14	chr6:143923200-143924400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:143923600-143924600	Weak transcription	HepG2	liver
16	chr6:143923800-143929200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:143923800-143929200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:143924000-143924400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:143924000-143925600	Weak transcription	Fetal Muscle Leg	muscle

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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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