Variant report

Variant	rs1059696
Chromosome Location	chr10:45934437-45934438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr10:45933932-45934573	HEK293-T-REx	kidney:	n/a	chr10:45934332-45934353 chr10:45934311-45934332 chr10:45934325-45934334
2	CCNT2	chr10:45934073-45934513	K562	blood:	n/a	n/a
3	ZNF263	chr10:45933876-45934574	K562	blood:	n/a	chr10:45934332-45934353 chr10:45934311-45934332 chr10:45934325-45934334
4	BHLHE40	chr10:45934231-45934471	K562	blood:	n/a	n/a
5	MAZ	chr10:45934167-45934479	K562	blood:	n/a	chr10:45934332-45934342
6	ZNF143	chr10:45933276-45934485	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45916870..45919327-chr10:45931748..45934680,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM21C-4	chr10:45931684-45934607	NONHSAT013093

Variant related genes	Relation type
ALOX5	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1051713	0.95[EUR][1000 genomes]
rs11239532	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12247163	0.90[EUR][1000 genomes]
rs12355888	0.81[EUR][1000 genomes]
rs1487562	0.89[EUR][1000 genomes]
rs2082109	0.99[EUR][1000 genomes]
rs2082110	0.99[EUR][1000 genomes]
rs2082111	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2310783	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780908	0.89[EUR][1000 genomes]
rs3891524	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56145077	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61854092	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61854093	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7068039	0.90[EUR][1000 genomes]
rs7080474	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130823	0.82[EUR][1000 genomes]
rs752059	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active 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	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv895110	chr10:45912771-45953767	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1059696	ANUBL1	cis	parietal	SCAN
rs1059696	ALOX5	Cis_1M	lymphoblastoid	RTeQTL
rs1059696	ANUBL1	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45916600-45949200	Weak transcription	Gastric	stomach
2	chr10:45925000-45940600	Weak transcription	Fetal Intestine Small	intestine
3	chr10:45925000-45949200	Weak transcription	Lung	lung
4	chr10:45925800-45936200	Weak transcription	Placenta	Placenta
5	chr10:45928800-45951000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:45929000-45934800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:45929200-45951600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr10:45929600-45934600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:45930200-45938400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:45930800-45935200	Weak transcription	Fetal Thymus	thymus
11	chr10:45930800-45935400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
12	chr10:45932400-45934800	Enhancers	Pancreas	Pancrea
13	chr10:45933600-45934800	Enhancers	K562	blood
14	chr10:45933800-45935400	Bivalent Enhancer	HepG2	liver
15	chr10:45934000-45938400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr10:45934000-45938600	Strong transcription	Primary B cells from cord blood	blood
17	chr10:45934000-45939400	Weak transcription	GM12878-XiMat	blood
18	chr10:45934000-45951200	Weak transcription	Esophagus	oesophagus
19	chr10:45934200-45934800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr10:45934200-45938400	Strong transcription	Spleen	Spleen
21	chr10:45934200-45942000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr10:45934400-45934800	Weak transcription	Thymus	Thymus
23	chr10:45934400-45941800	Strong transcription	Primary monocytes fromperipheralblood	blood

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