Variant report

Variant	rs2271678
Chromosome Location	chr15:58471556-58471557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57615195..57617935-chr15:58470715..58472691,2	K562	blood:
2	chr15:58402611..58405043-chr15:58470858..58473947,6	K562	blood:
3	chr15:58457163..58460249-chr15:58468233..58471898,3	K562	blood:
4	chr15:58355374..58360159-chr15:58469656..58474821,10	K562	blood:
5	chr15:58348390..58350453-chr15:58469668..58473033,3	K562	blood:
6	chr15:58464019..58467002-chr15:58469139..58471766,2	K562	blood:
7	chr15:58402733..58404852-chr15:58471216..58473457,2	K562	blood:
8	chr15:58305878..58307859-chr15:58469628..58472033,2	K562	blood:
9	chr15:58471240..58473438-chr15:58477636..58480344,3	K562	blood:
10	chr15:58467290..58469519-chr15:58470114..58472151,2	K562	blood:
11	chr15:58368356..58371327-chr15:58469110..58471908,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259285	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1317851	0.84[EUR][1000 genomes]
rs16939839	0.90[EUR][1000 genomes]
rs17240643	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17240650	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17240671	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17821086	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17821117	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821135	0.85[EUR][1000 genomes]
rs1814461	0.84[EUR][1000 genomes]
rs2292714	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2414537	0.84[EUR][1000 genomes]
rs2414538	0.84[EUR][1000 genomes]
rs2414539	0.84[EUR][1000 genomes]
rs2414543	0.90[EUR][1000 genomes]
rs2414544	0.90[EUR][1000 genomes]
rs2414545	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3784248	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3784255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825777	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55672049	0.85[EUR][1000 genomes]
rs55808100	0.86[EUR][1000 genomes]
rs55832939	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55860231	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885730	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56099208	0.89[EUR][1000 genomes]
rs56141765	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61113628	0.84[EUR][1000 genomes]
rs66717621	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66881380	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66896776	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67670862	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67683432	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7161943	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7165818	0.84[EUR][1000 genomes]
rs7165997	0.84[EUR][1000 genomes]
rs7179531	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7181378	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72737450	0.93[EUR][1000 genomes]
rs72743586	0.90[EUR][1000 genomes]
rs7496709	0.83[EUR][1000 genomes]
rs935204	0.90[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	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2752813	chr15:58461006-58507064	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2271678	CGNL1	cis	parietal	SCAN
rs2271678	LEO1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58451200-58481000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:58458400-58477800	Strong transcription	Liver	Liver
3	chr15:58461800-58473000	Weak transcription	Pancreas	Pancrea
4	chr15:58467400-58474600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr15:58470600-58471800	Enhancers	HUVEC	blood vessel
6	chr15:58470800-58473200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:58470800-58473800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr15:58471000-58471800	Enhancers	NHEK	skin
9	chr15:58471000-58473200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:58471000-58473200	Enhancers	HMEC	breast
11	chr15:58471200-58472600	Flanking Active TSS	K562	blood
12	chr15:58471200-58473000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:58471400-58471600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:58471400-58471600	Enhancers	Right Atrium	heart
15	chr15:58471400-58472400	Enhancers	Left Ventricle	heart
16	chr15:58471400-58472400	Genic enhancers	Spleen	Spleen
17	chr15:58471400-58472600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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