Variant report

Variant	rs11842878
Chromosome Location	chr13:51905682-51905683
allele	C/T
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	MTA3	chr13:51905401-51906084	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr13:51904902-51905965	GM12878	blood:	n/a	n/a
3	RELA	chr13:51904903-51905973	GM10847	blood:	n/a	chr13:51905630-51905639 chr13:51905630-51905639
4	MXI1	chr13:51905455-51905896	GM12878	blood:	n/a	chr13:51905555-51905564
5	EP300	chr13:51905476-51906005	GM12878	blood:	n/a	n/a
6	EP300	chr13:51905554-51905918	GM12878	blood:	n/a	n/a
7	EBF1	chr13:51904852-51906049	GM12878	blood:	n/a	n/a
8	EBF1	chr13:51905638-51906093	GM12878	blood:	n/a	n/a
9	POU2F2	chr13:51905443-51906022	GM12891	blood:	n/a	chr13:51905779-51905792
10	RELA	chr13:51904921-51906090	GM19099	blood:	n/a	chr13:51905630-51905639 chr13:51905630-51905639
11	WRNIP1	chr13:51905533-51905733	GM12878	blood:	n/a	n/a
12	RUNX3	chr13:51905362-51906141	GM12878	blood:	n/a	n/a
13	RELA	chr13:51904872-51906379	GM12891	blood:	n/a	chr13:51905630-51905639 chr13:51905630-51905639
14	RELA	chr13:51904878-51905991	GM18951	blood:	n/a	chr13:51905630-51905639 chr13:51905630-51905639
15	BHLHE40	chr13:51904773-51905993	GM12878	blood:	n/a	n/a
16	PML	chr13:51905441-51906216	GM12878	blood:	n/a	n/a
17	NFIC	chr13:51905452-51906008	GM12878	blood:	n/a	n/a
18	MAX	chr13:51904849-51906127	NB4	blood:	n/a	chr13:51905549-51905568 chr13:51905554-51905564 chr13:51905553-51905564 chr13:51905553-51905563 chr13:51905552-51905565 chr13:51905555-51905562 chr13:51905553-51905564 chr13:51905552-51905565 chr13:51905554-51905564 chr13:51905553-51905562 chr13:51905554-51905563 chr13:51905554-51905563 chr13:51905552-51905565
19	SMC3	chr13:51905680-51905917	GM12878	blood:	n/a	n/a
20	CUX1	chr13:51905518-51905761	GM12878	blood:	n/a	n/a
21	CHD2	chr13:51904841-51906173	GM12878	blood:	n/a	n/a
22	MAX	chr13:51904848-51906001	GM12878	blood:	n/a	chr13:51905549-51905568 chr13:51905554-51905564 chr13:51905553-51905564 chr13:51905553-51905563 chr13:51905552-51905565 chr13:51905555-51905562 chr13:51905553-51905564 chr13:51905552-51905565 chr13:51905554-51905564 chr13:51905553-51905562 chr13:51905554-51905563 chr13:51905554-51905563 chr13:51905552-51905565
23	NFIC	chr13:51904735-51905876	GM12878	blood:	n/a	n/a
24	ZNF143	chr13:51905541-51905949	GM12878	blood:	n/a	n/a
25	EGR1	chr13:51905542-51905704	GM12878	blood:	n/a	chr13:51905652-51905666
26	RCOR1	chr13:51905619-51906019	GM12878	blood:	n/a	n/a
27	RELA	chr13:51904893-51906037	GM18505	blood:	n/a	chr13:51905630-51905639 chr13:51905630-51905639
28	IKZF1	chr13:51905635-51905955	GM12878	blood:	n/a	n/a
29	RUNX3	chr13:51905444-51906139	GM12878	blood:	n/a	n/a
30	POU2F2	chr13:51905427-51905751	GM12878	blood:	n/a	n/a
31	POU2F2	chr13:51905419-51905898	GM12878	blood:	n/a	chr13:51905779-51905792
32	SP1	chr13:51905405-51905821	GM12878	blood:	n/a	chr13:51905561-51905568
33	STAT1	chr13:51905646-51905784	GM12878	blood:	n/a	n/a
34	USF2	chr13:51905379-51905776	GM12878	blood:	n/a	n/a
35	RELA	chr13:51905450-51906012	GM19193	blood:	n/a	chr13:51905630-51905639 chr13:51905630-51905639
36	EP300	chr13:51904851-51905969	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SERPINE3	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs11148215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148219	0.93[EUR][1000 genomes]
rs11838784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11839165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842573	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11843638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100084	0.93[EUR][1000 genomes]
rs12100112	0.93[EUR][1000 genomes]
rs12584325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12584416	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12585171	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585343	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413103	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1570549	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570550	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17195027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17529985	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17790799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4941697	1.00[AMR][1000 genomes]
rs4941699	0.93[EUR][1000 genomes]
rs4942992	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4942993	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942994	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4942995	0.93[EUR][1000 genomes]
rs4942996	0.93[EUR][1000 genomes]
rs4942997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4942998	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4942999	0.93[EUR][1000 genomes]
rs59024783	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59215783	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60860538	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956888	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956889	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956911	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61956913	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61956914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61956917	0.93[EUR][1000 genomes]
rs61956937	0.93[EUR][1000 genomes]
rs61956938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956942	0.93[EUR][1000 genomes]
rs61956943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956945	0.86[EUR][1000 genomes]
rs61956947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956949	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956950	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956951	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956952	0.93[EUR][1000 genomes]
rs61956955	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61958268	0.86[ASN][1000 genomes]
rs73195977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195982	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195996	0.93[EUR][1000 genomes]
rs73197808	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7338174	0.81[EUR][1000 genomes]
rs7400061	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7988157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992891	0.93[EUR][1000 genomes]
rs7995268	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8001625	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526756	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9563041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563047	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9563049	0.93[EUR][1000 genomes]
rs9563050	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563052	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563053	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563054	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563055	0.93[EUR][1000 genomes]
rs9563056	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568564	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568565	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568574	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568575	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568578	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568580	0.81[EUR][1000 genomes]
rs9568581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568586	0.93[EUR][1000 genomes]
rs9568588	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568589	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568590	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568591	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568592	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568593	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568594	0.93[EUR][1000 genomes]
rs9568596	0.93[EUR][1000 genomes]
rs9568609	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568610	0.80[AMR][1000 genomes]
rs9634685	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9634838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634844	0.93[EUR][1000 genomes];0.86[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	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51867600-51910800	Weak transcription	Pancreas	Pancrea
2	chr13:51900200-51914000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:51900400-51938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:51900800-51913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:51903400-51913600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:51903600-51906200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:51904000-51906600	Enhancers	Primary hematopoietic stem cells	blood
8	chr13:51904000-51906800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:51904000-51907800	Enhancers	Fetal Thymus	thymus
10	chr13:51904400-51905800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr13:51904400-51906200	Enhancers	Osteobl	bone
12	chr13:51904600-51906000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:51904600-51906000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:51904600-51906000	Enhancers	NH-A	brain
15	chr13:51904600-51906200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:51904600-51906200	Enhancers	HSMMtube	muscle
17	chr13:51904600-51907000	Enhancers	Thymus	Thymus
18	chr13:51904600-51907800	Enhancers	Primary T cells from cord blood	blood
19	chr13:51904800-51906000	Enhancers	Primary B cells from peripheral blood	blood
20	chr13:51904800-51906000	Enhancers	Spleen	Spleen
21	chr13:51904800-51906000	Enhancers	HMEC	breast
22	chr13:51904800-51906200	Enhancers	Primary B cells from cord blood	blood
23	chr13:51904800-51906400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:51905000-51905800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr13:51905000-51905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:51905000-51913800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:51905400-51905800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr13:51905400-51906000	Enhancers	HSMM	muscle
29	chr13:51905400-51906400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr13:51905400-51915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:51905600-51906000	Flanking Active TSS	GM12878-XiMat	blood
32	chr13:51905600-51906400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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