Variant report

Variant	rs7279434
Chromosome Location	chr21:40722733-40722734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40720321-40722997	K562	blood:	n/a	n/a
2	TBL1XR1	chr21:40721287-40722811	K562	blood:	n/a	n/a
3	POLR2A	chr21:40722290-40722904	HepG2	liver:	n/a	n/a
4	POLR2A	chr21:40720101-40723328	K562	blood:	n/a	n/a
5	POLR2A	chr21:40719451-40723014	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:40716164-40723345	K562	blood:	n/a	n/a
7	MAX	chr21:40721154-40722801	MCF-7	breast:	n/a	n/a
8	POLR2A	chr21:40722071-40722818	GM12878	blood:	n/a	n/a
9	HEY1	chr21:40722117-40722791	K562	blood:	n/a	n/a
10	POLR2A	chr21:40720187-40723493	K562	blood:	n/a	n/a
11	HCFC1	chr21:40722528-40722976	K562	blood:	n/a	n/a
12	POLR2A	chr21:40719412-40723072	GM12891	blood:	n/a	n/a
13	POLR2A	chr21:40720270-40723072	Raji	blood:	n/a	n/a
14	POLR2A	chr21:40719490-40723323	GM12878	blood:	n/a	n/a
15	MAZ	chr21:40722300-40722749	K562	blood:	n/a	n/a
16	MXI1	chr21:40721205-40722958	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr21:40720192-40723374	K562	blood:	n/a	n/a
18	POLR2A	chr21:40721179-40723096	K562	blood:	n/a	n/a
19	CUX1	chr21:40722532-40723073	K562	blood:	n/a	n/a
20	POLR2A	chr21:40721209-40722749	HL-60	blood:	n/a	n/a
21	POLR2A	chr21:40719461-40723355	K562	blood:	n/a	n/a
22	POLR2A	chr21:40720079-40723072	MCF-7	breast:	n/a	n/a
23	HEY1	chr21:40721204-40722743	K562	blood:	n/a	n/a
24	POLR2A	chr21:40722134-40722748	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr21:40720112-40723009	K562	blood:	n/a	n/a
26	IRF1	chr21:40721308-40722835	K562	blood:	n/a	chr21:40722217-40722237 chr21:40722215-40722229 chr21:40722219-40722233 chr21:40722219-40722229 chr21:40722215-40722232 chr21:40722218-40722231

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40635630..40638349-chr21:40720638..40723544,2	MCF-7	breast:
2	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
3	chr21:40550592..40552295-chr21:40721972..40724130,2	K562	blood:
4	chr21:40650772..40652472-chr21:40721952..40724679,2	K562	blood:
5	chr21:40720623..40723017-chr21:40815562..40818761,4	K562	blood:
6	chr21:40717517..40723762-chr21:40756232..40761980,18	MCF-7	breast:
7	chr21:40716662..40723444-chr21:40748337..40754328,16	MCF-7	breast:
8	chr21:40719359..40724848-chr21:40748806..40754741,7	MCF-7	breast:
9	chr21:40720444..40722867-chr21:40823306..40826080,2	MCF-7	breast:
10	chr21:40716442..40724032-chr21:40756185..40762223,18	K562	blood:
11	chr21:40721779..40723568-chr21:40810701..40813342,2	MCF-7	breast:
12	chr21:40719750..40724652-chr21:40748317..40754270,9	K562	blood:
13	chr21:40651445..40653004-chr21:40721446..40723113,2	MCF-7	breast:
14	chr21:40721702..40724513-chr21:40734759..40737368,2	K562	blood:
15	chr21:40717665..40724454-chr21:40756191..40763334,22	MCF-7	breast:
16	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
17	chr21:40719238..40723494-chr21:40813785..40819496,7	MCF-7	breast:
18	chr21:40716961..40722807-chr21:40750720..40754894,10	K562	blood:
19	chr21:40719410..40723060-chr21:40814028..40819084,9	K562	blood:
20	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:

No data

Variant related genes	Relation type
HMGN1	TF binding region
ENSG00000272991	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000227406	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11911475	0.81[ASN][1000 genomes]
rs12106311	0.81[ASN][1000 genomes]
rs13433458	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554933	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1554934	0.81[ASN][1000 genomes]
rs2239384	0.84[ASN][1000 genomes]
rs2735313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836990	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836992	0.84[ASN][1000 genomes]
rs28550626	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28629334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761372	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4818027	0.88[ASN][1000 genomes]
rs4818030	0.89[ASN][1000 genomes]
rs8132324	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9974653	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9983270	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9983368	0.81[ASN][1000 genomes]
rs9983594	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7279434	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs7279434	WRB	cis	Nerve Tibial	GTEx
rs7279434	WRB	cis	Adipose Subcutaneous	GTEx
rs7279434	WRB	cis	Whole Blood	GTEx
rs7279434	LCA5L	cis	Nerve Tibial	GTEx
rs7279434	WRB	cis	lung	GTEx
rs7279434	WRB	cis	Artery Tibial	GTEx
rs7279434	WRB	cis	Thyroid	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40719200-40722800	Active TSS	Hela-S3	cervix
2	chr21:40721800-40723000	Flanking Active TSS	Dnd41	blood
3	chr21:40721800-40725400	Weak transcription	NHLF	lung
4	chr21:40722000-40722800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:40722000-40722800	Enhancers	Liver	Liver
6	chr21:40722000-40723000	Active TSS	Colonic Mucosa	Colon
7	chr21:40722000-40723000	Genic enhancers	Right Atrium	heart
8	chr21:40722200-40722800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr21:40722200-40722800	Flanking Active TSS	GM12878-XiMat	blood
10	chr21:40722400-40722800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr21:40722400-40722800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr21:40722400-40722800	Flanking Active TSS	HepG2	liver
13	chr21:40722400-40723000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr21:40722400-40723000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr21:40722400-40723000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr21:40722400-40723000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr21:40722400-40723000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:40722400-40723200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr21:40722400-40723200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr21:40722400-40723600	Flanking Active TSS	K562	blood
21	chr21:40722600-40722800	Enhancers	HMEC	breast
22	chr21:40722600-40723000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:40722600-40723000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr21:40722600-40723000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:40722600-40723000	Enhancers	Fetal Intestine Small	intestine
26	chr21:40722600-40723000	Enhancers	Rectal Mucosa Donor 31	rectum

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