Variant report

Variant	rs72944595
Chromosome Location	chr1:85415018-85415019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10873667	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117919	1.00[EUR][1000 genomes]
rs58279485	1.00[EUR][1000 genomes]
rs58977145	1.00[EUR][1000 genomes]
rs653213	1.00[EUR][1000 genomes]
rs72944567	0.84[EUR][1000 genomes]
rs72944579	0.97[EUR][1000 genomes]
rs72944587	1.00[EUR][1000 genomes]
rs72944593	1.00[EUR][1000 genomes]
rs74098721	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr1:85402000-85419600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:85411400-85416400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:85411400-85426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:85411800-85416200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:85412000-85415200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:85412000-85415600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:85412000-85424600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:85412000-85425200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:85412200-85415400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:85412200-85430200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:85413200-85416800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:85413800-85416400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:85414400-85415400	Strong transcription	GM12878-XiMat	blood
14	chr1:85414800-85415600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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