Variant report

Variant	rs11012730
Chromosome Location	chr10:21811487-21811488
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	GATA3	chr10:21811361-21812402	SH-SY5Y	brain:	n/a	chr10:21812069-21812082 chr10:21812155-21812165 chr10:21812201-21812214 chr10:21812203-21812210 chr10:21812202-21812212 chr10:21812203-21812212 chr10:21811951-21811960

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:21783306..21788486-chr10:21805319..21811721,9	K562	blood:
2	chr10:21784969..21786893-chr10:21809778..21812672,2	MCF-7	breast:

Variant related genes	Relation type
SKIDA1	TF binding region
ENSG00000222071	Chromatin interaction
ENSG00000204682	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10159545	0.82[EUR][1000 genomes]
rs10828246	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10828247	0.86[CEU][hapmap];0.86[GIH][hapmap]
rs10828248	0.86[GIH][hapmap]
rs10828249	0.86[GIH][hapmap]
rs11012725	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11595807	0.81[CHD][hapmap]
rs12256551	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1243182	1.00[ASW][hapmap]
rs2183271	0.94[ASW][hapmap]
rs35336290	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5011832	1.00[CHB][hapmap];0.90[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6482189	0.89[ASW][hapmap]
rs7098100	0.94[ASW][hapmap]
rs874149	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs9732777	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825284	chr10:21739527-21847437	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv825285	chr10:21742026-21874334	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv825286	chr10:21757784-21838890	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv825288	chr10:21759085-21831354	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
5	nsv825289	chr10:21762506-21845875	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
6	nsv527055	chr10:21764019-21822856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv825290	chr10:21777857-21830878	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
8	nsv894936	chr10:21781589-21827796	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv550200	chr10:21782842-21824727	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
10	nsv894937	chr10:21782842-21827796	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
11	nsv517469	chr10:21783634-21822856	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
12	nsv894938	chr10:21784899-21827796	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
13	nsv894939	chr10:21789406-21830104	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv825291	chr10:21792100-21830946	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv894940	chr10:21796081-21823525	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv550201	chr10:21796081-21824727	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv894941	chr10:21796081-21827796	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv894942	chr10:21798241-21823525	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv894943	chr10:21798241-21824619	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	nsv894944	chr10:21798241-21827796	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv894945	chr10:21798241-21830104	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv894946	chr10:21798241-21831215	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	nsv1052477	chr10:21810270-21889726	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11012730	MLLT10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21806800-21814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:21807000-21814200	Weak transcription	Lung	lung
3	chr10:21807000-21814400	Weak transcription	Spleen	Spleen
4	chr10:21808400-21813800	Weak transcription	Hela-S3	cervix
5	chr10:21809200-21811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:21809200-21811600	Weak transcription	HepG2	liver
7	chr10:21809200-21813400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:21809200-21813600	Weak transcription	Brain Substantia Nigra	brain
9	chr10:21809200-21813600	Weak transcription	Pancreas	Pancrea
10	chr10:21809200-21813800	Weak transcription	Esophagus	oesophagus
11	chr10:21809400-21811600	Weak transcription	Fetal Intestine Large	intestine
12	chr10:21809400-21812000	Weak transcription	Fetal Brain Female	brain
13	chr10:21809400-21812000	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:21809400-21812000	Weak transcription	Left Ventricle	heart
15	chr10:21809400-21812200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr10:21809400-21812200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:21809400-21812600	Weak transcription	HSMMtube	muscle
18	chr10:21809400-21812800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:21809400-21812800	Enhancers	Fetal Heart	heart
20	chr10:21809400-21813000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr10:21809400-21813000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:21809400-21813000	Enhancers	Colon Smooth Muscle	Colon
23	chr10:21809400-21813200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:21809400-21813200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr10:21809400-21813400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:21809400-21813600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:21809400-21813600	Weak transcription	Liver	Liver
28	chr10:21809400-21813600	Weak transcription	Brain Angular Gyrus	brain
29	chr10:21809400-21813600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:21809400-21813600	Weak transcription	Placenta	Placenta
31	chr10:21809600-21812600	Weak transcription	Psoas Muscle	Psoas
32	chr10:21809600-21812600	Weak transcription	HMEC	breast
33	chr10:21809600-21813000	Weak transcription	Aorta	Aorta
34	chr10:21809600-21813200	Weak transcription	Ovary	ovary
35	chr10:21809800-21812400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:21809800-21812400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:21809800-21812600	Weak transcription	HUVEC	blood vessel
38	chr10:21809800-21813400	Enhancers	A549	lung
39	chr10:21809800-21813400	Weak transcription	Osteobl	bone
40	chr10:21809800-21813600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:21809800-21813600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:21810000-21811600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr10:21810000-21812200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:21810200-21811600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr10:21810200-21811600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr10:21810200-21811800	Weak transcription	Fetal Intestine Small	intestine
47	chr10:21810200-21812000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:21810200-21812600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr10:21810200-21812800	Enhancers	Fetal Lung	lung
50	chr10:21810200-21812800	Weak transcription	Right Atrium	heart

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