Variant report

Variant	rs1223516
Chromosome Location	chr6:13135833-13135834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1223509	0.97[ASN][1000 genomes]
rs1223514	1.00[ASN][1000 genomes]
rs1223515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1223517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1223518	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1223522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1223523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1223524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1223525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1223528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1223530	0.97[ASN][1000 genomes]
rs1223533	0.97[ASN][1000 genomes]
rs1223536	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1223537	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1753554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753555	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753562	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1937769	1.00[EUR][1000 genomes];0.93[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	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13124400-13137800	Weak transcription	Pancreas	Pancrea
2	chr6:13128200-13139600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:13128400-13139000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:13132000-13138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:13132600-13139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:13132800-13137800	Weak transcription	Left Ventricle	heart
7	chr6:13132800-13153000	Weak transcription	Aorta	Aorta
8	chr6:13133200-13136800	Weak transcription	Fetal Heart	heart
9	chr6:13133200-13138600	Weak transcription	Right Ventricle	heart
10	chr6:13133600-13137000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:13135600-13136600	Weak transcription	Brain Anterior Caudate	brain
12	chr6:13135800-13136600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:13135800-13138200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:13135800-13138400	Weak transcription	iPS-20b 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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