Variant report

Variant	rs6488315
Chromosome Location	chr12:10804883-10804884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57880649	0.84[AFR][1000 genomes]
rs7300889	0.84[AFR][1000 genomes]
rs73264011	0.80[AFR][1000 genomes]
rs73264018	0.80[AFR][1000 genomes]
rs73264045	0.84[AFR][1000 genomes]
rs73265915	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73265916	0.88[AFR][1000 genomes]
rs7957167	0.81[AFR][1000 genomes]
rs7966052	0.84[AFR][1000 genomes]
rs7975199	0.81[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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10799800-10813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:10800000-10809600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10800400-10808600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:10800600-10809600	Weak transcription	HUVEC	blood vessel
5	chr12:10800800-10809400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:10804600-10805600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:10804800-10805000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr12:10804800-10805200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:10804800-10805200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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