Variant report

Variant	rs4749318
Chromosome Location	chr10:28624300-28624301
allele	A/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	BATF	chr10:28624144-28624409	GM12878	blood:	n/a	n/a
2	IKZF1	chr10:28623235-28624467	GM12878	blood:	n/a	n/a
3	WRNIP1	chr10:28623941-28624315	GM12878	blood:	n/a	n/a
4	STAT3	chr10:28623313-28624326	GM12878	blood:	n/a	n/a
5	EP300	chr10:28623192-28624464	GM12878	blood:	n/a	n/a
6	NFIC	chr10:28623704-28624477	GM12878	blood:	n/a	n/a
7	YY1	chr10:28623876-28624492	GM12878	blood:	n/a	n/a
8	ATF2	chr10:28623668-28624516	GM12878	blood:	n/a	n/a
9	IRF4	chr10:28623663-28624451	GM12878	blood:	n/a	n/a
10	RELA	chr10:28623807-28624352	GM18951	blood:	n/a	n/a
11	MXI1	chr10:28623244-28624424	GM12878	blood:	n/a	n/a
12	BATF	chr10:28623686-28624480	GM12878	blood:	n/a	n/a
13	CREB1	chr10:28623763-28624571	GM12878	blood:	n/a	n/a
14	RUNX3	chr10:28623720-28624430	GM12878	blood:	n/a	n/a
15	EP300	chr10:28623184-28624435	GM12878	blood:	n/a	n/a
16	CHD2	chr10:28623834-28624342	GM12878	blood:	n/a	n/a
17	YY1	chr10:28624113-28624389	GM12892	blood:	n/a	n/a
18	MAX	chr10:28623926-28624425	MCF-7	breast:	n/a	n/a
19	POLR2A	chr10:28623843-28624321	Raji	blood:	n/a	n/a
20	SRF	chr10:28624242-28624428	GM12878	blood:	n/a	n/a
21	BHLHE40	chr10:28623164-28624481	GM12878	blood:	n/a	chr10:28623273-28623294
22	MEF2C	chr10:28624092-28624460	GM12878	blood:	n/a	n/a
23	TBL1XR1	chr10:28623301-28624433	GM12878	blood:	n/a	n/a
24	YY1	chr10:28624238-28624475	GM12892	blood:	n/a	n/a
25	YY1	chr10:28623881-28624482	GM12878	blood:	n/a	n/a
26	BCL11A	chr10:28623666-28624508	GM12878	blood:	n/a	n/a
27	EBF1	chr10:28623277-28624383	GM12878	blood:	n/a	n/a
28	RUNX3	chr10:28623687-28624559	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MPP7	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10826453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11007029	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1249330	0.95[ASN][1000 genomes]
rs1249332	0.95[ASN][1000 genomes]
rs1249333	0.97[ASN][1000 genomes]
rs1249344	0.81[ASN][1000 genomes]
rs1840875	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1840876	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4747618	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs703024	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1044938	chr10:28601993-28659440	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28618800-28624400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:28618800-28626600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:28619000-28624600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr10:28619200-28624600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr10:28619400-28624600	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:28621600-28625600	Enhancers	Fetal Thymus	thymus
7	chr10:28621800-28624400	Active TSS	Colon Smooth Muscle	Colon
8	chr10:28621800-28624400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr10:28621800-28624400	Active TSS	Rectal Smooth Muscle	rectum
10	chr10:28622000-28624400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:28622000-28624400	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr10:28622000-28624400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr10:28622200-28624400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr10:28622800-28624600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr10:28623200-28624400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:28623200-28624400	Flanking Active TSS	GM12878-XiMat	blood
17	chr10:28623200-28625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:28623600-28624400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:28623600-28624400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr10:28623800-28624400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr10:28623800-28624400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr10:28623800-28624400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr10:28623800-28624400	Active TSS	Placenta	Placenta
24	chr10:28623800-28624600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:28624000-28624400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:28624000-28624400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:28624000-28626000	Enhancers	Primary B cells from cord blood	blood
28	chr10:28624200-28624400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr10:28624200-28624400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:28624200-28624400	Active TSS	Stomach Smooth Muscle	stomach
31	chr10:28624200-28624400	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
32	chr10:28624200-28624400	Bivalent/Poised TSS	Osteobl	bone
33	chr10:28624200-28624600	Active TSS	Primary T cells from cord blood	blood
34	chr10:28624200-28624600	Enhancers	Duodenum Mucosa	Duodenum
35	chr10:28624200-28625000	Weak transcription	Thymus	Thymus
36	chr10:28624200-28625400	Enhancers	Primary B cells from peripheral blood	blood
37	chr10:28624200-28626200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:28624200-28626400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr10:28624200-28626400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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