Variant report

Variant	rs533018
Chromosome Location	chr11:64819218-64819219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr11:64818461-64819355	GM12878	blood:	n/a	n/a
2	ATF2	chr11:64818853-64819348	GM12878	blood:	n/a	n/a
3	TCF12	chr11:64819044-64819225	GM12878	blood:	n/a	n/a
4	CEBPB	chr11:64819117-64819459	K562	blood:	n/a	chr11:64819284-64819295
5	POLR2A	chr11:64818550-64819228	Hela-S3	cervix:	n/a	n/a
6	NFATC1	chr11:64818800-64819373	GM12878	blood:	n/a	n/a
7	EBF1	chr11:64818954-64819367	GM12878	blood:	n/a	n/a
8	STAT5A	chr11:64818916-64819309	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:64819126-64819443	HepG2	liver:	n/a	chr11:64819284-64819295
10	NFIC	chr11:64818847-64819415	GM12878	blood:	n/a	n/a
11	BCL3	chr11:64818912-64819267	GM12878	blood:	n/a	n/a
12	MTA3	chr11:64818811-64819435	GM12878	blood:	n/a	n/a
13	BCL11A	chr11:64818967-64819329	GM12878	blood:	n/a	n/a
14	ATF2	chr11:64818826-64819392	GM12878	blood:	n/a	n/a
15	NFIC	chr11:64818822-64819303	GM12878	blood:	n/a	n/a
16	CEBPB	chr11:64819137-64819411	A549	lung:	n/a	chr11:64819284-64819295
17	PML	chr11:64818713-64819509	GM12878	blood:	n/a	n/a
18	BATF	chr11:64818932-64819262	GM12878	blood:	n/a	n/a
19	CEBPB	chr11:64819205-64819342	Hela-S3	cervix:	n/a	chr11:64819284-64819295
20	BCLAF1	chr11:64818859-64819377	GM12878	blood:	n/a	n/a
21	FOXM1	chr11:64818830-64819357	GM12878	blood:	n/a	n/a
22	IKZF1	chr11:64818958-64819250	GM12878	blood:	n/a	n/a
23	CEBPB	chr11:64819105-64819456	IMR90	lung:	n/a	chr11:64819284-64819295
24	MTA3	chr11:64818826-64819297	GM12878	blood:	n/a	n/a
25	RUNX3	chr11:64818538-64819365	GM12878	blood:	n/a	n/a
26	IRF4	chr11:64818901-64819378	GM12878	blood:	n/a	n/a
27	BATF	chr11:64818906-64819262	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64807871..64811209-chr11:64819025..64821229,4	MCF-7	breast:
2	chr11:64819003..64820709-chr11:64820825..64822558,3	K562	blood:
3	chr11:64817752..64820566-chr11:64835947..64837906,2	K562	blood:
4	chr11:64810649..64814377-chr11:64818779..64822031,5	K562	blood:
5	chr11:64812432..64815528-chr11:64818635..64820425,3	K562	blood:
6	chr11:64808310..64809815-chr11:64818321..64820626,2	K562	blood:
7	chr11:64789917..64792279-chr11:64818238..64820270,2	K562	blood:
8	chr11:64808319..64812889-chr11:64818537..64822434,8	MCF-7	breast:

No data

Variant related genes	Relation type
NAALADL1	TF binding region
RN7SL114P	TF binding region
ENSG00000168060	Chromatin interaction
ENSG00000168061	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10897544	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1300845	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458298	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2507814	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3741390	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759041	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs476824	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs486984	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs488686	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs502333	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs525433	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs562590	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs566221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613874	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs620981	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs678614	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs533018	SNX15	cis	Muscle Skeletal	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64812600-64820200	Weak transcription	HMEC	breast
2	chr11:64813400-64821200	Weak transcription	Primary T cells from cord blood	blood
3	chr11:64813400-64824200	Weak transcription	HepG2	liver
4	chr11:64813800-64833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:64814000-64827600	Weak transcription	Pancreas	Pancrea
6	chr11:64815800-64821000	Weak transcription	Fetal Thymus	thymus
7	chr11:64816000-64820200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:64816000-64820800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:64816000-64820800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:64816000-64821000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:64816000-64821000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:64816000-64821000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:64816000-64821000	Weak transcription	Fetal Intestine Large	intestine
14	chr11:64816000-64821000	Weak transcription	Fetal Intestine Small	intestine
15	chr11:64816000-64821000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:64816000-64821200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:64816000-64821200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:64816000-64821200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:64816000-64821400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:64816200-64820000	Weak transcription	Esophagus	oesophagus
21	chr11:64816200-64820200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:64816200-64820200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:64816200-64820400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:64816200-64821000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:64816200-64821000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:64816200-64821000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:64816200-64821000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:64816200-64825800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:64816400-64821400	Weak transcription	Spleen	Spleen
30	chr11:64816600-64820200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:64818400-64819400	Enhancers	GM12878-XiMat	blood
32	chr11:64819200-64820600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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