Variant report

Variant	rs7082330
Chromosome Location	chr10:49956880-49956881
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	STAT5A	chr10:49956455-49956936	GM12878	blood:	n/a	chr10:49956790-49956801
2	NFIC	chr10:49956337-49957078	GM12878	blood:	n/a	n/a
3	MTA3	chr10:49956489-49956989	GM12878	blood:	n/a	n/a
4	PML	chr10:49956413-49957062	GM12878	blood:	n/a	n/a
5	MAZ	chr10:49956708-49956897	GM12878	blood:	n/a	n/a
6	EBF1	chr10:49956637-49957027	GM12878	blood:	n/a	chr10:49956806-49956817 chr10:49956949-49956958 chr10:49956808-49956817
7	MTA3	chr10:49956398-49957062	GM12878	blood:	n/a	n/a
8	IRF4	chr10:49956360-49957048	GM12878	blood:	n/a	n/a
9	ATF2	chr10:49956522-49957037	GM12878	blood:	n/a	n/a
10	MEF2C	chr10:49956519-49956918	GM12878	blood:	n/a	chr10:49956709-49956730 chr10:49956712-49956727
11	MEF2A	chr10:49956473-49956960	GM12878	blood:	n/a	chr10:49956709-49956730
12	FOXM1	chr10:49956465-49957057	GM12878	blood:	n/a	n/a
13	SPI1	chr10:49956544-49956944	GM12891	blood:	n/a	chr10:49956790-49956799
14	IKZF1	chr10:49956509-49957012	GM12878	blood:	n/a	n/a
15	BCL11A	chr10:49956460-49956914	GM12878	blood:	n/a	chr10:49956790-49956799
16	EP300	chr10:49956704-49956900	GM12878	blood:	n/a	chr10:49956785-49956799
17	NFIC	chr10:49956297-49957004	GM12878	blood:	n/a	n/a
18	SPI1	chr10:49956375-49957160	GM12878	blood:	n/a	chr10:49956521-49956534 chr10:49956790-49956799
19	EP300	chr10:49956541-49957048	GM12878	blood:	n/a	chr10:49956785-49956799
20	SPI1	chr10:49956566-49956989	GM12891	blood:	n/a	chr10:49956790-49956799
21	EBF1	chr10:49956681-49957000	GM12878	blood:	n/a	chr10:49956806-49956817 chr10:49956949-49956958 chr10:49956808-49956817
22	RUNX3	chr10:49956408-49956986	GM12878	blood:	n/a	n/a
23	CHD2	chr10:49956595-49956912	GM12878	blood:	n/a	n/a
24	NFATC1	chr10:49956511-49956927	GM12878	blood:	n/a	n/a
25	RUNX3	chr10:49956421-49957015	GM12878	blood:	n/a	n/a
26	EBF1	chr10:49956601-49957021	GM12878	blood:	n/a	chr10:49956806-49956817 chr10:49956949-49956958 chr10:49956808-49956817
27	ZNF384	chr10:49956585-49956914	GM12878	blood:	n/a	n/a
28	SPI1	chr10:49956589-49957004	GM12878	blood:	n/a	chr10:49956790-49956799
29	ATF2	chr10:49956340-49957015	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr10:49956582-49956953	GM12878	blood:	n/a	n/a
31	EP300	chr10:49956586-49956893	GM12878	blood:	n/a	chr10:49956785-49956799
32	BATF	chr10:49956447-49956970	GM12878	blood:	n/a	chr10:49956679-49956690
33	MEF2A	chr10:49956518-49956969	GM12878	blood:	n/a	chr10:49956709-49956730
34	IRF4	chr10:49956533-49957050	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49948156..49950641-chr10:49956258..49957956,2	K562	blood:

Variant related genes	Relation type
ENSG00000228754	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10857631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101460	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[TSI][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12217721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17771583	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.94[TSI][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2620902	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7072606	1.00[ASW][hapmap];0.86[GIH][hapmap];0.92[LWK][hapmap];0.87[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7082315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7101218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7082330	WDFY4	cis	Whole Blood	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49923400-49960200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49948600-49957200	Weak transcription	Esophagus	oesophagus
3	chr10:49952000-49960800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr10:49953400-49960200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:49954200-49957400	Weak transcription	Lung	lung
6	chr10:49954200-49957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:49955000-49958000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr10:49955400-49957600	Genic enhancers	GM12878-XiMat	blood
9	chr10:49955800-49957000	Genic enhancers	Primary B cells from cord blood	blood
10	chr10:49955800-49957000	Genic enhancers	Monocytes-CD14+_RO01746	blood
11	chr10:49955800-49957200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr10:49955800-49957200	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr10:49956200-49957800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:49956200-49958600	Enhancers	Adipose Nuclei	Adipose
15	chr10:49956400-49957400	Enhancers	Spleen	Spleen
16	chr10:49956800-49957000	Enhancers	Sigmoid Colon	Sigmoid Colon

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