Variant report

Variant	rs10741072
Chromosome Location	chr10:25237313-25237314
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	GATA3	chr10:25237242-25237457	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr10:25236780-25237584	SK-N-SH	brain:	n/a	chr10:25237043-25237053 chr10:25237039-25237060 chr10:25237019-25237029
3	GATA2	chr10:25237144-25237415	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:25235302..25239090-chr10:25240000..25243649,4	MCF-7	breast:
2	chr10:25228270..25233826-chr10:25234068..25237911,6	K562	blood:

Variant related genes	Relation type
ENSG00000273107	TF binding region
ENSG00000273107	Chromatin interaction
ENSG00000099256	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10741071	0.91[CHD][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs10764513	0.86[ASN][1000 genomes]
rs10828727	1.00[YRI][hapmap]
rs10828728	0.96[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10828730	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10828731	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11014314	0.87[EUR][1000 genomes]
rs11014318	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11014320	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs185669	0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.89[ASN][1000 genomes]
rs2035888	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2478091	0.92[ASN][1000 genomes]
rs274295	0.82[ASN][1000 genomes]
rs274296	0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs274297	0.83[ASN][1000 genomes]
rs274299	0.93[ASN][1000 genomes]
rs274301	0.83[JPT][hapmap]
rs274305	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs274307	0.84[ASN][1000 genomes]
rs274310	0.84[ASN][1000 genomes]
rs274311	0.86[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs274313	0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs274316	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3000491	0.83[ASN][1000 genomes]
rs3748223	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053278	chr10:25140776-25269093	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	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
rs10741072	OTUD1	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25191600-25240600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:25211400-25239800	Weak transcription	Fetal Kidney	kidney
3	chr10:25215800-25240000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:25219200-25240000	Weak transcription	Dnd41	blood
5	chr10:25225400-25240000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:25225400-25240000	Weak transcription	Fetal Brain Female	brain
7	chr10:25226200-25239800	Weak transcription	Fetal Lung	lung
8	chr10:25226400-25239200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:25228200-25239800	Weak transcription	Fetal Stomach	stomach
10	chr10:25232600-25239800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:25232800-25240000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:25233600-25237800	Enhancers	Brain Anterior Caudate	brain
13	chr10:25234200-25240400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:25234200-25240400	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:25234200-25240600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:25234200-25240600	Weak transcription	Right Atrium	heart
17	chr10:25234400-25239800	Weak transcription	A549	lung
18	chr10:25234400-25239800	Weak transcription	HepG2	liver
19	chr10:25234400-25239800	Weak transcription	K562	blood
20	chr10:25234400-25240600	Weak transcription	Adipose Nuclei	Adipose
21	chr10:25234600-25239800	Weak transcription	Fetal Intestine Small	intestine
22	chr10:25234800-25238000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr10:25235400-25237600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:25235400-25240400	Enhancers	Brain Substantia Nigra	brain
25	chr10:25235800-25237400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:25235800-25237400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:25235800-25237600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr10:25235800-25237600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:25235800-25238000	Enhancers	Brain Angular Gyrus	brain
30	chr10:25236000-25237400	Enhancers	NHEK	skin
31	chr10:25236000-25237800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:25236200-25237400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr10:25236200-25241000	Weak transcription	Thymus	Thymus
34	chr10:25236600-25237400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:25236600-25237400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr10:25236600-25240200	Weak transcription	NHLF	lung
37	chr10:25236800-25237800	Enhancers	Brain Cingulate Gyrus	brain
38	chr10:25236800-25239400	Enhancers	Brain Hippocampus Middle	brain
39	chr10:25236800-25239800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:25236800-25240000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr10:25236800-25240600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:25236800-25240600	Weak transcription	Left Ventricle	heart
43	chr10:25237000-25237400	Weak transcription	Brain Germinal Matrix	brain
44	chr10:25237000-25238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:25237000-25238200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:25237000-25238800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:25237000-25239800	Weak transcription	Fetal Muscle Leg	muscle
48	chr10:25237000-25240000	Weak transcription	Small Intestine	intestine
49	chr10:25237000-25240200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:25237000-25240400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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