Variant report

Variant	rs2800406
Chromosome Location	chr10:27514065-27514066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27511405..27514372-chr10:27529616..27531388,2	K562	blood:
2	chr10:27511969..27517991-chr10:27527633..27531388,6	K562	blood:
3	chr10:27511986..27514445-chr10:27529817..27531647,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10764688	0.81[ASN][1000 genomes]
rs10829211	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11015613	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1144508	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1775352	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1780090	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1780093	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1819352	0.87[ASN][1000 genomes]
rs1831187	0.81[EUR][1000 genomes]
rs1831188	0.81[EUR][1000 genomes]
rs1854340	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2026015	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2770200	0.82[EUR][1000 genomes]
rs2770201	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2780665	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2780666	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2780668	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780670	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2780671	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2780673	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2780678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797077	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2797079	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2800391	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2800393	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2800394	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2800395	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2800397	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2800398	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2800401	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2800403	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800404	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800405	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4747589	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4747595	0.85[EUR][1000 genomes]
rs4749236	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4749238	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6482603	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs692860	0.85[ASN][1000 genomes]
rs7074295	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7078662	0.84[EUR][1000 genomes]
rs7080568	0.81[ASN][1000 genomes]
rs7085905	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7477200	0.84[EUR][1000 genomes]
rs7902034	0.85[EUR][1000 genomes]
rs7902126	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7903590	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7914155	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7917207	0.82[EUR][1000 genomes]
rs944909	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv894980	chr10:27477285-27526531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2800406	MASTL	cis	lung	GTEx
rs2800406	MASTL	cis	Whole Blood	GTEx
rs2800406	MASTL	cis	Thyroid	GTEx
rs2800406	MASTL	cis	Artery Tibial	GTEx
rs2800406	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2800406	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs2800406	MASTL	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
2	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
5	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:27491800-27527800	Weak transcription	Fetal Brain Male	brain
7	chr10:27494800-27528200	Weak transcription	K562	blood
8	chr10:27500000-27528000	Weak transcription	NHLF	lung
9	chr10:27500000-27528400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:27500200-27519800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:27500800-27528000	Weak transcription	HMEC	breast
12	chr10:27501000-27528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:27503200-27528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:27504000-27515400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr10:27504000-27528200	Weak transcription	Brain Substantia Nigra	brain
16	chr10:27504800-27514600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr10:27505200-27527800	Weak transcription	Right Ventricle	heart
18	chr10:27505600-27519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:27505600-27528000	Weak transcription	NHEK	skin
20	chr10:27506000-27519800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:27508200-27515400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:27508400-27528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:27508600-27516400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:27508600-27519800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr10:27508600-27527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:27508600-27527800	Weak transcription	Colonic Mucosa	Colon
27	chr10:27508600-27529000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr10:27508800-27516200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:27508800-27516600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:27508800-27518200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:27508800-27519400	Weak transcription	Gastric	stomach
32	chr10:27508800-27522000	Weak transcription	Lung	lung
33	chr10:27508800-27523400	Weak transcription	HepG2	liver
34	chr10:27508800-27527800	Weak transcription	Pancreas	Pancrea
35	chr10:27508800-27527800	Weak transcription	Spleen	Spleen
36	chr10:27508800-27528000	Weak transcription	Brain Germinal Matrix	brain
37	chr10:27508800-27528600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:27508800-27528600	Weak transcription	Esophagus	oesophagus
39	chr10:27508800-27528600	Weak transcription	Thymus	Thymus
40	chr10:27508800-27528600	Weak transcription	HSMMtube	muscle
41	chr10:27508800-27528800	Weak transcription	Aorta	Aorta
42	chr10:27508800-27529000	Weak transcription	Small Intestine	intestine
43	chr10:27509000-27514800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:27509400-27522400	Weak transcription	Ovary	ovary
45	chr10:27509600-27515000	Weak transcription	Brain Hippocampus Middle	brain
46	chr10:27509600-27524000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr10:27509600-27526000	Weak transcription	Fetal Heart	heart
48	chr10:27510000-27518600	Weak transcription	Brain Anterior Caudate	brain
49	chr10:27510000-27518600	Weak transcription	NHDF-Ad	bronchial
50	chr10:27510400-27514400	Strong transcription	Fetal Intestine Small	intestine

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