Variant report

Variant	rs788220
Chromosome Location	chr10:27447205-27447206
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	FOSL2	chr10:27447202-27447862	A549	lung:	n/a	n/a
2	POLR2A	chr10:27447133-27447358	GM12891	blood:	n/a	n/a
3	TCF12	chr10:27447058-27447969	A549	lung:	n/a	chr10:27447617-27447626
4	JUND	chr10:27446947-27447797	SK-N-SH	brain:	n/a	chr10:27447509-27447520
5	WRNIP1	chr10:27447175-27447389	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:27446137-27447684	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27446928..27449068-chr10:27531203..27533528,2	MCF-7	breast:
2	chr10:27446193..27447784-chr10:27452402..27455185,2	K562	blood:
3	chr10:27446193..27448131-chr10:27454155..27455993,2	K562	blood:
4	chr10:27443444..27445356-chr10:27445718..27447282,2	MCF-7	breast:
5	chr10:27446133..27449073-chr10:27468277..27471511,3	K562	blood:

Variant related genes	Relation type
YME1L1	TF binding region
ENSG00000136758	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000120539	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10443987	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741125	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10741128	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10764662	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10764672	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829164	1.00[JPT][hapmap]
rs10829165	0.92[ASN][1000 genomes]
rs10829190	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015463	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11812283	1.00[JPT][hapmap]
rs12411584	1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[ASN][1000 genomes]
rs12413716	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs12415615	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1253045	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916444	1.00[JPT][hapmap]
rs16927573	1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[ASN][1000 genomes]
rs1753413	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1755399	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974366	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149413	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368197	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463941	0.83[ASN][1000 genomes]
rs41279940	0.83[ASN][1000 genomes]
rs4747584	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4747592	1.00[JPT][hapmap]
rs4747594	1.00[JPT][hapmap]
rs4749217	1.00[JPT][hapmap]
rs4749221	0.80[EUR][1000 genomes]
rs4749224	0.92[ASN][1000 genomes]
rs4749228	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6415983	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6482586	1.00[YRI][hapmap]
rs6482587	0.92[ASN][1000 genomes]
rs6482588	0.92[ASN][1000 genomes]
rs6482593	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482594	0.82[AMR][1000 genomes]
rs6482595	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7079807	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7087033	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096505	0.92[ASN][1000 genomes]
rs788210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788211	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902540	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7907988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7911024	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915902	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918232	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918793	1.00[JPT][hapmap]
rs7919198	1.00[JPT][hapmap]
rs9833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs788220	MASTL	cis	Esophagus Muscularis	GTEx
rs788220	MASTL	cis	Nerve Tibial	GTEx
rs788220	MASTL	cis	Muscle Skeletal	GTEx
rs788220	MASTL	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445000-27447400	Enhancers	Stomach Mucosa	stomach
2	chr10:27445000-27454200	Weak transcription	Brain Substantia Nigra	brain
3	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
4	chr10:27445200-27447600	Weak transcription	Lung	lung
5	chr10:27445200-27453000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:27445200-27454200	Weak transcription	Ovary	ovary
7	chr10:27445200-27454400	Weak transcription	Gastric	stomach
8	chr10:27445400-27447400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:27445400-27447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr10:27445400-27447600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr10:27445400-27450600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr10:27445400-27450600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:27445400-27452600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:27445400-27452800	Weak transcription	Left Ventricle	heart
15	chr10:27445400-27452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:27445400-27453000	Weak transcription	Right Ventricle	heart
17	chr10:27445400-27453000	Weak transcription	HSMMtube	muscle
18	chr10:27445400-27454200	Weak transcription	Brain Anterior Caudate	brain
19	chr10:27445400-27454200	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:27445400-27454200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr10:27445400-27454400	Weak transcription	Aorta	Aorta
22	chr10:27445400-27454400	Weak transcription	Brain Angular Gyrus	brain
23	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:27445600-27447400	Weak transcription	Primary T cells from cord blood	blood
25	chr10:27445600-27447400	Weak transcription	Adipose Nuclei	Adipose
26	chr10:27445600-27447400	Weak transcription	Fetal Intestine Large	intestine
27	chr10:27445600-27447400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:27445600-27447600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:27445600-27447600	Weak transcription	Liver	Liver
30	chr10:27445600-27447800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:27445600-27448800	Weak transcription	Pancreas	Pancrea
32	chr10:27445600-27449000	Weak transcription	HSMM	muscle
33	chr10:27445600-27449400	Weak transcription	Colonic Mucosa	Colon
34	chr10:27445600-27449600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:27445600-27452600	Weak transcription	Esophagus	oesophagus
36	chr10:27445600-27452600	Weak transcription	Spleen	Spleen
37	chr10:27445600-27454200	Weak transcription	Fetal Kidney	kidney
38	chr10:27445600-27470800	Weak transcription	Psoas Muscle	Psoas
39	chr10:27445800-27447600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr10:27445800-27447600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr10:27445800-27454400	Weak transcription	Right Atrium	heart
42	chr10:27446000-27447400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:27446000-27454200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:27446200-27447800	Weak transcription	Thymus	Thymus
45	chr10:27446200-27448000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr10:27446400-27447400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:27446400-27447400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:27446400-27447400	Weak transcription	Fetal Lung	lung
49	chr10:27446400-27447400	Weak transcription	Fetal Thymus	thymus
50	chr10:27446400-27447400	Enhancers	HepG2	liver

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