Variant report

Variant	rs72805630
Chromosome Location	chr10:28623886-28623887
allele	C/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	EBF1	chr10:28623783-28624138	GM12878	blood:	n/a	n/a
2	IKZF1	chr10:28623235-28624467	GM12878	blood:	n/a	n/a
3	BATF	chr10:28623766-28624066	GM12878	blood:	n/a	n/a
4	ZNF143	chr10:28623782-28623982	GM12878	blood:	n/a	n/a
5	STAT3	chr10:28623313-28624326	GM12878	blood:	n/a	n/a
6	EP300	chr10:28623192-28624464	GM12878	blood:	n/a	n/a
7	NFIC	chr10:28623704-28624477	GM12878	blood:	n/a	n/a
8	CEBPB	chr10:28623728-28623930	IMR90	lung:	n/a	n/a
9	YY1	chr10:28623876-28624492	GM12878	blood:	n/a	n/a
10	ATF2	chr10:28623668-28624516	GM12878	blood:	n/a	n/a
11	IRF4	chr10:28623663-28624451	GM12878	blood:	n/a	n/a
12	RELA	chr10:28623807-28624352	GM18951	blood:	n/a	n/a
13	MXI1	chr10:28623244-28624424	GM12878	blood:	n/a	n/a
14	RCOR1	chr10:28623252-28624194	GM12878	blood:	n/a	n/a
15	BATF	chr10:28623686-28624480	GM12878	blood:	n/a	n/a
16	TCF12	chr10:28623849-28624191	GM12878	blood:	n/a	n/a
17	CREB1	chr10:28623763-28624571	GM12878	blood:	n/a	n/a
18	RUNX3	chr10:28623720-28624430	GM12878	blood:	n/a	n/a
19	EP300	chr10:28623184-28624435	GM12878	blood:	n/a	n/a
20	CHD2	chr10:28623834-28624342	GM12878	blood:	n/a	n/a
21	POLR2A	chr10:28623843-28624321	Raji	blood:	n/a	n/a
22	BHLHE40	chr10:28623164-28624481	GM12878	blood:	n/a	chr10:28623273-28623294
23	STAT1	chr10:28623830-28624168	GM12878	blood:	n/a	n/a
24	TBL1XR1	chr10:28623301-28624433	GM12878	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	chr10:28623851-28624170	GM12878	blood:	n/a	n/a
28	BCL11A	chr10:28623799-28624069	GM12878	blood:	n/a	n/a
29	EBF1	chr10:28623277-28624383	GM12878	blood:	n/a	n/a
30	RUNX3	chr10:28623687-28624559	GM12878	blood:	n/a	n/a
31	PAX5	chr10:28623811-28624134	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MPP7	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1148177	0.93[ASN][1000 genomes]
rs1148178	0.93[ASN][1000 genomes]
rs1148179	0.93[ASN][1000 genomes]
rs1148180	0.93[ASN][1000 genomes]
rs1148181	0.93[ASN][1000 genomes]
rs1148182	0.90[ASN][1000 genomes]
rs1148183	0.85[ASN][1000 genomes]
rs1148185	0.93[ASN][1000 genomes]
rs1148186	0.93[ASN][1000 genomes]
rs1148187	0.86[ASN][1000 genomes]
rs1148189	0.90[ASN][1000 genomes]
rs12098315	0.93[ASN][1000 genomes]
rs12098807	0.93[ASN][1000 genomes]
rs1249340	0.96[ASN][1000 genomes]
rs1249347	0.93[ASN][1000 genomes]
rs1249348	0.93[ASN][1000 genomes]
rs1273097	0.93[ASN][1000 genomes]
rs1379320	0.89[ASN][1000 genomes]
rs1762188	0.83[ASN][1000 genomes]
rs2447629	0.93[ASN][1000 genomes]
rs2995539	0.89[ASN][1000 genomes]
rs34827546	0.93[ASN][1000 genomes]
rs61845947	0.83[ASN][1000 genomes]
rs72803699	0.89[ASN][1000 genomes]
rs72805609	0.90[ASN][1000 genomes]
rs72805627	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72805631	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs811496	0.96[ASN][1000 genomes]
rs813081	0.93[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:55 , 50 per page) page: 1 2

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	chr10:28621800-28624200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr10:28621800-28624400	Active TSS	Colon Smooth Muscle	Colon
9	chr10:28621800-28624400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr10:28621800-28624400	Active TSS	Rectal Smooth Muscle	rectum
11	chr10:28622000-28624000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr10:28622000-28624400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:28622000-28624400	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr10:28622000-28624400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr10:28622200-28624400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr10:28622600-28624000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:28622600-28624200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:28622800-28624200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:28622800-28624600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr10:28623000-28624200	Enhancers	HSMM	muscle
21	chr10:28623200-28624000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:28623200-28624400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:28623200-28624400	Flanking Active TSS	GM12878-XiMat	blood
24	chr10:28623200-28625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:28623600-28624000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr10:28623600-28624200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr10:28623600-28624200	Enhancers	Fetal Muscle Leg	muscle
28	chr10:28623600-28624200	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr10:28623600-28624400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:28623600-28624400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr10:28623800-28624000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:28623800-28624000	Active TSS	Primary T cells from cord blood	blood
33	chr10:28623800-28624000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:28623800-28624000	Active TSS	Fetal Intestine Small	intestine
35	chr10:28623800-28624000	Flanking Active TSS	Fetal Stomach	stomach
36	chr10:28623800-28624000	Enhancers	Left Ventricle	heart
37	chr10:28623800-28624200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:28623800-28624200	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr10:28623800-28624200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:28623800-28624200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:28623800-28624200	Active TSS	Colonic Mucosa	Colon
42	chr10:28623800-28624200	Active TSS	Duodenum Mucosa	Duodenum
43	chr10:28623800-28624200	Active TSS	Esophagus	oesophagus
44	chr10:28623800-28624200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr10:28623800-28624200	Enhancers	Pancreas	Pancrea
46	chr10:28623800-28624200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr10:28623800-28624200	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr10:28623800-28624200	Enhancers	Thymus	Thymus
49	chr10:28623800-28624200	Active TSS	NHLF	lung
50	chr10:28623800-28624200	Flanking Bivalent TSS/Enh	Osteobl	bone

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