Variant report

Variant	rs12975051
Chromosome Location	chr19:19934927-19934928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr19:19934732-19935204	GM12891	blood:	n/a	n/a
2	EBF1	chr19:19934750-19935140	GM12878	blood:	n/a	n/a
3	BHLHE40	chr19:19934804-19935040	GM12878	blood:	n/a	n/a
4	EP300	chr19:19934872-19935029	GM12878	blood:	n/a	n/a
5	TCF12	chr19:19934808-19935021	GM12878	blood:	n/a	n/a
6	RELA	chr19:19934717-19935381	GM12891	blood:	n/a	n/a
7	SPI1	chr19:19934770-19934963	GM12878	blood:	n/a	n/a
8	BCL11A	chr19:19934745-19935130	GM12878	blood:	n/a	n/a
9	RUNX3	chr19:19934776-19935101	GM12878	blood:	n/a	n/a
10	PAX5	chr19:19934698-19935142	GM12878	blood:	n/a	n/a
11	RELA	chr19:19934768-19935150	GM12892	blood:	n/a	n/a
12	MEF2A	chr19:19934663-19935067	GM12878	blood:	n/a	n/a
13	IRF4	chr19:19934709-19935169	GM12878	blood:	n/a	n/a
14	BCLAF1	chr19:19934717-19935152	GM12878	blood:	n/a	n/a
15	RELA	chr19:19934732-19935100	GM18526	blood:	n/a	n/a
16	STAT3	chr19:19934840-19935216	GM12878	blood:	n/a	n/a
17	RELA	chr19:19934746-19935236	GM18951	blood:	n/a	n/a
18	ATF2	chr19:19934731-19935129	GM12878	blood:	n/a	n/a
19	BCL11A	chr19:19934802-19935037	GM12878	blood:	n/a	n/a
20	BCL3	chr19:19934765-19935109	GM12878	blood:	n/a	n/a
21	SP1	chr19:19934781-19935077	GM12878	blood:	n/a	n/a
22	BCL3	chr19:19934825-19935064	GM12878	blood:	n/a	n/a
23	MAZ	chr19:19934848-19934988	GM12878	blood:	n/a	n/a
24	FOXM1	chr19:19934720-19935190	GM12878	blood:	n/a	n/a
25	EP300	chr19:19934710-19935068	GM12878	blood:	n/a	n/a
26	CUX1	chr19:19934819-19935334	GM12878	blood:	n/a	n/a
27	FOXM1	chr19:19934722-19935145	GM12878	blood:	n/a	n/a
28	SPI1	chr19:19934747-19935148	GM12891	blood:	n/a	n/a
29	RELA	chr19:19934766-19935117	GM19193	blood:	n/a	n/a
30	SPI1	chr19:19934757-19935122	GM12878	blood:	n/a	n/a
31	EBF1	chr19:19934667-19935209	GM12878	blood:	n/a	n/a
32	RELA	chr19:19934772-19935137	GM15510	blood:	n/a	n/a
33	RELA	chr19:19934704-19935160	GM19099	blood:	n/a	n/a
34	RELA	chr19:19934744-19935119	GM10847	blood:	n/a	n/a
35	NFIC	chr19:19934702-19935182	GM12878	blood:	n/a	n/a
36	IKZF1	chr19:19934759-19935064	GM12878	blood:	n/a	n/a
37	RELA	chr19:19934748-19935160	GM18505	blood:	n/a	n/a
38	RELA	chr19:19934720-19935163	GM12878	blood:	n/a	n/a
39	RUNX3	chr19:19934655-19935183	GM12878	blood:	n/a	n/a
40	TBL1XR1	chr19:19934773-19935157	GM12878	blood:	n/a	n/a
41	NFATC1	chr19:19934697-19935138	GM12878	blood:	n/a	n/a
42	EBF1	chr19:19934753-19935106	GM12878	blood:	n/a	n/a
43	SPI1	chr19:19934503-19935217	GM12878	blood:	n/a	n/a
44	EP300	chr19:19934746-19935057	GM12878	blood:	n/a	n/a
45	NFIC	chr19:19934601-19935125	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000267581	TF binding region
ZNF506	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10404296	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10412885	0.95[ASN][1000 genomes]
rs12710110	0.91[ASN][1000 genomes]
rs12975508	0.96[AFR][1000 genomes]
rs16996360	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs248930	0.89[ASN][1000 genomes]
rs248931	0.89[ASN][1000 genomes]
rs248932	0.90[ASN][1000 genomes]
rs248933	0.91[ASN][1000 genomes]
rs248934	0.83[ASN][1000 genomes]
rs248936	0.87[CEU][hapmap];0.89[CHB][hapmap]
rs248942	0.89[ASN][1000 genomes]
rs248944	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs248945	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs248946	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs248947	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs248948	0.89[ASN][1000 genomes]
rs248949	0.89[ASN][1000 genomes]
rs248951	0.89[ASN][1000 genomes]
rs248952	0.88[ASN][1000 genomes]
rs248954	0.89[ASN][1000 genomes]
rs3087767	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3762190	0.91[ASN][1000 genomes]
rs4808216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808991	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs4808995	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511050	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7246727	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7248808	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7256535	0.88[ASN][1000 genomes]
rs8109240	0.89[ASN][1000 genomes]
rs8111421	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription 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	67 gene(s)	inside rSNPs	diseases
2	nsv458375	chr19:19863014-19949209	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv578798	chr19:19863014-19949209	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv911313	chr19:19866371-19936078	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
7	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv578799	chr19:19901136-19967970	ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
12	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12975051	ZNF506	Cis_1M	lymphoblastoid	RTeQTL
rs12975051	ZNF506	cis	normal skin	skin_eQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19928000-19936600	ZNF genes & repeats	GM12878-XiMat	blood
2	chr19:19933200-19936400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:19933400-19953400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:19933600-19936200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:19933600-19936800	ZNF genes & repeats	Liver	Liver
6	chr19:19934800-19935200	Enhancers	Primary B cells from peripheral blood	blood

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