Variant report

Variant	rs11595747
Chromosome Location	chr10:45428871-45428872
allele	G/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	WRNIP1	chr10:45428138-45428914	GM12878	blood:	n/a	n/a
2	RAD21	chr10:45427904-45428903	SK-N-SH	brain:	n/a	chr10:45428315-45428334 chr10:45428320-45428330 chr10:45428320-45428332 chr10:45428318-45428331 chr10:45428418-45428432
3	SMC3	chr10:45427932-45428903	SK-N-SH	brain:	n/a	chr10:45428320-45428330 chr10:45428316-45428330
4	CTCF	chr10:45428058-45428879	GM12878	blood:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
5	MTA3	chr10:45428096-45428915	GM12878	blood:	n/a	n/a
6	CTCF	chr10:45427935-45428915	SK-N-SH	brain:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332

No.	Distal block	Cell Line	Cell type
1	chr10:45427848..45429109-chr10:45470117..45471084,9	K562	blood:
2	chr10:45427854..45429057-chr10:45469852..45471361,17	MCF-7	breast:
3	chr10:45426643..45429443-chr10:45484154..45486322,2	MCF-7	breast:
4	chr10:45428054..45429898-chr10:45453888..45455446,2	MCF-7	breast:
5	chr10:45428329..45431725-chr10:45453082..45455678,3	MCF-7	breast:
6	chr10:45427906..45430396-chr10:45477062..45479599,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223462	TF binding region
ENSG00000224812	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000273363	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10900135	0.83[EUR][1000 genomes]
rs11239287	1.00[ASN][1000 genomes]
rs11598392	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1332628	1.00[ASN][1000 genomes]
rs17417060	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17515726	0.96[ASN][1000 genomes]
rs72778871	0.89[ASN][1000 genomes]
rs72780637	0.93[ASN][1000 genomes]
rs949607	1.00[ASN][1000 genomes]
rs952956	1.00[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	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv818757	chr10:45420076-45431321	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11595747	WTAP	trans	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45410200-45430400	Weak transcription	Gastric	stomach
2	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
3	chr10:45425400-45429800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:45425800-45430600	Weak transcription	Colonic Mucosa	Colon
5	chr10:45427600-45433600	Enhancers	Fetal Muscle Leg	muscle
6	chr10:45427800-45429800	Enhancers	Spleen	Spleen
7	chr10:45427800-45432200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr10:45427800-45432200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr10:45427800-45432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:45427800-45432400	Enhancers	Right Ventricle	heart
11	chr10:45427800-45432800	Enhancers	HSMMtube	muscle
12	chr10:45427800-45433200	Enhancers	Adipose Nuclei	Adipose
13	chr10:45427800-45433200	Enhancers	Pancreas	Pancrea
14	chr10:45428000-45429000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:45428000-45429000	Enhancers	Brain Angular Gyrus	brain
16	chr10:45428000-45429200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr10:45428000-45429200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr10:45428000-45429400	Enhancers	Fetal Intestine Small	intestine
19	chr10:45428000-45429400	Enhancers	Dnd41	blood
20	chr10:45428000-45429600	Enhancers	Brain Substantia Nigra	brain
21	chr10:45428000-45429600	Enhancers	GM12878-XiMat	blood
22	chr10:45428000-45429800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:45428000-45430600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr10:45428000-45430800	Enhancers	Brain Hippocampus Middle	brain
25	chr10:45428000-45431000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr10:45428000-45432000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:45428000-45432400	Enhancers	Brain Anterior Caudate	brain
28	chr10:45428000-45432600	Enhancers	Brain Cingulate Gyrus	brain
29	chr10:45428000-45432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr10:45428000-45433000	Enhancers	Fetal Thymus	thymus
31	chr10:45428000-45433200	Enhancers	Fetal Heart	heart
32	chr10:45428000-45433400	Enhancers	Placenta	Placenta
33	chr10:45428000-45436600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr10:45428200-45429000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:45428200-45429200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr10:45428200-45432200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:45428400-45429000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr10:45428400-45429000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:45428400-45429400	Enhancers	Thymus	Thymus
40	chr10:45428400-45431600	Enhancers	Left Ventricle	heart
41	chr10:45428400-45436800	Enhancers	HepG2	liver
42	chr10:45428600-45429000	Enhancers	Esophagus	oesophagus
43	chr10:45428600-45429000	Weak transcription	Right Atrium	heart
44	chr10:45428600-45429800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:45428600-45430400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:45428600-45430600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:45428600-45430600	Weak transcription	Colon Smooth Muscle	Colon
48	chr10:45428600-45431000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr10:45428600-45431200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:45428600-45432000	Enhancers	Stomach Smooth Muscle	stomach

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