Variant report

Variant	rs313760
Chromosome Location	chr1:86285582-86285583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86283944..86286909-chr1:86290122..86291813,2	MCF-7	breast:
2	chr1:86283869..86285851-chr1:86286499..86288640,2	MCF-7	breast:
3	chr1:86211855..86213533-chr1:86285001..86287776,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10873731	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11161693	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11161695	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12029238	0.91[ASN][1000 genomes]
rs12124109	0.92[ASN][1000 genomes]
rs12127479	0.91[ASN][1000 genomes]
rs167518	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs172693	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs172694	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17411495	0.91[ASN][1000 genomes]
rs188763	0.89[ASN][1000 genomes]
rs1904947	0.92[ASN][1000 genomes]
rs2256515	0.91[ASN][1000 genomes]
rs2795038	0.91[ASN][1000 genomes]
rs313701	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313702	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs313705	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313707	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs313709	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs313738	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs313739	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313740	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313741	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313742	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313743	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs313744	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313745	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313746	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313749	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313754	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs313755	0.84[AMR][1000 genomes]
rs313756	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313757	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313761	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313762	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs313764	0.91[ASN][1000 genomes]
rs313765	0.85[ASN][1000 genomes]
rs313766	0.91[ASN][1000 genomes]
rs313767	0.88[ASN][1000 genomes]
rs313768	0.91[ASN][1000 genomes]
rs313769	0.91[ASN][1000 genomes]
rs313770	0.91[ASN][1000 genomes]
rs313771	0.84[ASN][1000 genomes]
rs313772	0.85[ASN][1000 genomes]
rs313774	0.89[ASN][1000 genomes]
rs313775	0.91[ASN][1000 genomes]
rs383588	0.95[ASN][1000 genomes]
rs428475	0.92[ASN][1000 genomes]
rs437257	0.92[ASN][1000 genomes]
rs445782	0.92[ASN][1000 genomes]
rs556247	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61785081	0.92[ASN][1000 genomes]
rs61785083	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7524286	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7536101	0.92[ASN][1000 genomes]
rs7544141	0.91[ASN][1000 genomes]
rs7549218	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1011293	chr1:86270649-86416972	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86280000-86296600	Weak transcription	GM12878-XiMat	blood
2	chr1:86283600-86296400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86284000-86296400	Weak transcription	Fetal Lung	lung
4	chr1:86284200-86296400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:86284200-86296400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86284600-86288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86284800-86286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:86285000-86286000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:86285000-86286000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:86285000-86286400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:86285200-86286200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:86285200-86286400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:86285400-86285800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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