Variant report

Variant	rs34853448
Chromosome Location	chr10:21809412-21809413
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	MAX	chr10:21808842-21809413	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr10:21808741-21809488	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr10:21808686-21809479	U87	brain:	n/a	n/a
4	ZBTB33	chr10:21808845-21809430	SK-N-SH	brain:	n/a	chr10:21809091-21809100
5	POLR2A	chr10:21808743-21809484	SK-N-SH	brain:	n/a	n/a
6	REST	chr10:21803516-21809448	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr10:21808642-21809544	U87	brain:	n/a	n/a
8	POLR2A	chr10:21808695-21809479	U87	brain:	n/a	n/a
9	POLR2A	chr10:21808642-21809537	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:21783306..21788486-chr10:21805319..21811721,9	K562	blood:
2	chr10:21808160..21810754-chr10:22013854..22015934,2	K562	blood:

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

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11012726	0.82[AMR][1000 genomes]
rs12357321	0.85[AMR][1000 genomes]
rs12770228	0.80[AMR][1000 genomes]
rs12779865	0.81[AMR][1000 genomes]
rs946711	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34853448	MLLT10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21804000-21809600	Active TSS	Right Ventricle	heart
2	chr10:21804400-21809600	Active TSS	Ovary	ovary
3	chr10:21804600-21809600	Active TSS	Brain Germinal Matrix	brain
4	chr10:21804800-21809600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr10:21805000-21809600	Active TSS	Aorta	Aorta
6	chr10:21805000-21809600	Active TSS	NHDF-Ad	bronchial
7	chr10:21805200-21809600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:21805200-21809600	Active TSS	Psoas Muscle	Psoas
9	chr10:21805200-21810000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:21805400-21809800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:21806000-21809600	Active TSS	Right Atrium	heart
12	chr10:21806400-21809800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:21806800-21814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:21807000-21809600	Active TSS	Osteobl	bone
15	chr10:21807000-21814200	Weak transcription	Lung	lung
16	chr10:21807000-21814400	Weak transcription	Spleen	Spleen
17	chr10:21807200-21809600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr10:21807200-21809600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:21807800-21810200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:21808200-21810200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr10:21808400-21809600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr10:21808400-21810400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr10:21808400-21813800	Weak transcription	Hela-S3	cervix
24	chr10:21808600-21809600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:21808600-21809800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:21808600-21810000	Active TSS	Stomach Smooth Muscle	stomach
27	chr10:21808800-21809600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:21808800-21809600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:21808800-21809600	Active TSS	Fetal Lung	lung
30	chr10:21809000-21809600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:21809000-21809600	Active TSS	HMEC	breast
32	chr10:21809000-21809600	Active TSS	NHEK	skin
33	chr10:21809000-21809800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:21809200-21809600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr10:21809200-21809600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr10:21809200-21809600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr10:21809200-21809600	Active TSS	NH-A	brain
38	chr10:21809200-21809800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
39	chr10:21809200-21810600	Enhancers	Fetal Brain Male	brain
40	chr10:21809200-21811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:21809200-21811600	Weak transcription	HepG2	liver
42	chr10:21809200-21813400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:21809200-21813600	Weak transcription	Brain Substantia Nigra	brain
44	chr10:21809200-21813600	Weak transcription	Pancreas	Pancrea
45	chr10:21809200-21813800	Weak transcription	Esophagus	oesophagus
46	chr10:21809400-21809600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr10:21809400-21809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:21809400-21809600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr10:21809400-21809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:21809400-21809800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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