Variant report

Variant	rs11239523
Chromosome Location	chr10:45912237-45912238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45911482..45913829-chr10:45919426..45921258,2	K562	blood:
2	chr10:45911283..45913624-chr10:45922069..45924597,2	K562	blood:
3	chr10:45906079..45908146-chr10:45910632..45912489,2	K562	blood:

Variant related genes	Relation type
ENSG00000012779	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10900215	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900228	1.00[ASN][1000 genomes]
rs11239501	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs11239506	0.88[EUR][1000 genomes]
rs11239512	0.88[EUR][1000 genomes]
rs11239515	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11239516	0.93[EUR][1000 genomes]
rs11239517	0.93[EUR][1000 genomes]
rs11239519	0.90[EUR][1000 genomes]
rs11239520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11239524	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239534	1.00[ASN][1000 genomes]
rs11239540	1.00[ASN][1000 genomes]
rs11239572	1.00[ASN][1000 genomes]
rs12355888	1.00[ASN][1000 genomes]
rs17444064	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs28395868	1.00[ASN][1000 genomes]
rs28586924	1.00[ASN][1000 genomes]
rs41526545	0.88[EUR][1000 genomes]
rs55789336	0.83[EUR][1000 genomes]
rs55837212	0.82[EUR][1000 genomes]
rs55866086	0.90[EUR][1000 genomes]
rs56071381	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61854113	1.00[ASN][1000 genomes]
rs61854124	1.00[ASN][1000 genomes]
rs6593484	0.88[EUR][1000 genomes]
rs72796464	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796496	1.00[ASN][1000 genomes]
rs72798218	1.00[ASN][1000 genomes]
rs72798220	1.00[ASN][1000 genomes]
rs7907779	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11239523	RBP3	cis	parietal	SCAN
rs11239523	ANUBL1	cis	parietal	SCAN
rs11239523	ALOX5	Cis_1M	lymphoblastoid	RTeQTL
rs11239523	ANUBL1	cis	cerebellum	SCAN
rs11239523	ALOX5	cis	lymphoblastoid	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45891600-45914200	Weak transcription	Thymus	Thymus
2	chr10:45894400-45912800	Weak transcription	Placenta	Placenta
3	chr10:45899400-45914000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:45900000-45913000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:45901600-45913200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:45905400-45913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:45905400-45913400	Weak transcription	Lung	lung
8	chr10:45905400-45914000	Weak transcription	Gastric	stomach
9	chr10:45905800-45914200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:45906200-45913600	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:45906600-45913400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:45907000-45914000	Weak transcription	Fetal Intestine Large	intestine
13	chr10:45907400-45916000	Weak transcription	K562	blood
14	chr10:45908000-45914000	Weak transcription	Brain Substantia Nigra	brain
15	chr10:45908400-45912800	Weak transcription	Spleen	Spleen
16	chr10:45908400-45914200	Weak transcription	Fetal Intestine Small	intestine
17	chr10:45908600-45912800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:45908600-45913200	Weak transcription	GM12878-XiMat	blood
19	chr10:45911000-45912400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr10:45911800-45913000	Genic enhancers	Primary monocytes fromperipheralblood	blood
21	chr10:45911800-45913000	Genic enhancers	Primary B cells from cord blood	blood
22	chr10:45911800-45913400	Genic enhancers	Monocytes-CD14+_RO01746	blood
23	chr10:45912000-45913600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
24	chr10:45912200-45914000	Weak transcription	Pancreas	Pancrea
25	chr10:45912200-45914200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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