Variant report

Variant	rs12199301
Chromosome Location	chr6:36912256-36912257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12191672	1.00[JPT][hapmap]
rs2293388	1.00[JPT][hapmap]
rs2293389	1.00[JPT][hapmap]
rs3778022	1.00[JPT][hapmap]
rs3778024	1.00[JPT][hapmap]
rs3798477	1.00[JPT][hapmap]
rs3798478	1.00[JPT][hapmap]
rs6918432	0.88[CHD][hapmap]
rs726819	1.00[JPT][hapmap]
rs734905	1.00[JPT][hapmap]
rs753634	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs753635	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs9357232	1.00[JPT][hapmap]

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	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12199301	PI16	cis	cerebellum	SCAN
rs12199301	PI16	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36892800-36915600	Weak transcription	Pancreas	Pancrea
2	chr6:36896200-36914200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:36896200-36915400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:36896400-36914200	Weak transcription	Brain Substantia Nigra	brain
5	chr6:36898600-36922200	Weak transcription	Right Atrium	heart
6	chr6:36908000-36915200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:36908800-36914000	Weak transcription	Thymus	Thymus
8	chr6:36910800-36916000	Weak transcription	Hela-S3	cervix
9	chr6:36911200-36912600	Enhancers	Primary B cells from cord blood	blood
10	chr6:36911400-36912800	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:36912000-36912600	Enhancers	Fetal Thymus	thymus
12	chr6:36912000-36913200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:36912200-36912600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr6:36912200-36912800	Enhancers	Brain Anterior Caudate	brain
15	chr6:36912200-36912800	Enhancers	Fetal Heart	heart

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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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