Variant report

Variant	rs12199141
Chromosome Location	chr6:164010335-164010336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12194670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12199664	1.00[AFR][1000 genomes]
rs1230319	1.00[AFR][1000 genomes]
rs1737605	1.00[AFR][1000 genomes]
rs2321699	1.00[AFR][1000 genomes]
rs2759397	1.00[AFR][1000 genomes]
rs2784868	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS 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	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163998200-164010800	Enhancers	Brain Cingulate Gyrus	brain
2	chr6:164007200-164010400	Enhancers	HSMMtube	muscle
3	chr6:164007400-164011000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr6:164007800-164010600	Weak transcription	Fetal Heart	heart
5	chr6:164008200-164011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:164009200-164011200	Enhancers	Brain Anterior Caudate	brain
7	chr6:164009600-164011000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:164009600-164011600	Weak transcription	Right Ventricle	heart
9	chr6:164009800-164010800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:164009800-164011600	Weak transcription	NHEK	skin
11	chr6:164010000-164010400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:164010000-164010400	Enhancers	Brain Substantia Nigra	brain
13	chr6:164010000-164011000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:164010200-164011000	Enhancers	Brain Germinal Matrix	brain
15	chr6:164010200-164011000	Enhancers	Brain Hippocampus Middle	brain
16	chr6:164010200-164011000	Enhancers	HUVEC	blood vessel
17	chr6:164010200-164013600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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