Variant report

Variant	rs12196807
Chromosome Location	chr6:54554155-54554156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12190982	0.94[EUR][1000 genomes]
rs12198000	0.83[EUR][1000 genomes]
rs12199020	0.83[EUR][1000 genomes]
rs12211620	0.81[EUR][1000 genomes]
rs12216154	0.83[EUR][1000 genomes]
rs3913635	0.83[EUR][1000 genomes]
rs72959489	0.83[AMR][1000 genomes]
rs72967427	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72967428	0.85[AMR][1000 genomes]
rs9464136	0.83[EUR][1000 genomes]
rs9475003	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv1813954	chr6:54518364-54557296	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1813136	chr6:54550530-54557193	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1807602	chr6:54553140-54557193	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3473995	chr6:54553738-54557493	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3473997	chr6:54553854-54557380	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv21159	chr6:54553918-54557383	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1804920	chr6:54553922-54557399	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1811098	chr6:54553922-54557399	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1805121	chr6:54553942-54557193	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1805171	chr6:54553942-54557193	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv1809635	chr6:54553942-54557193	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv1812631	chr6:54553942-54557193	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2760995	chr6:54554082-54554627	Bivalent Enhancer Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv1804438	chr6:54554122-54557296	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1805482	chr6:54554122-54557296	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54554000-54554800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr6:54554000-54555200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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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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