Variant report

Variant	rs17531310
Chromosome Location	chr10:27519947-27519948
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27519329..27521488-chr10:27529432..27532187,2	MCF-7	breast:
2	chr10:27518617..27521324-chr10:27527252..27530128,4	K562	blood:
3	chr10:27519175..27520963-chr10:27527252..27529084,2	K562	blood:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1144508	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1144509	0.86[ASN][1000 genomes]
rs1775352	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1780090	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1780093	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1819352	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1831187	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1831188	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1854340	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2026015	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2368219	0.81[EUR][1000 genomes]
rs2770200	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2770201	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2780665	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2780666	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2780668	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2780669	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2780670	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2780671	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2780673	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2780677	0.89[ASN][1000 genomes]
rs2797077	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2797079	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800391	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800393	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800394	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800395	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800397	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2800398	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2800399	0.90[ASN][1000 genomes]
rs2800401	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2800402	0.89[ASN][1000 genomes]
rs2800403	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2800404	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2800405	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35209475	0.88[ASN][1000 genomes]
rs4747595	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4749239	0.80[EUR][1000 genomes]
rs480738	0.92[ASN][1000 genomes]
rs484172	0.92[ASN][1000 genomes]
rs501495	0.93[ASN][1000 genomes]
rs527192	0.82[ASN][1000 genomes]
rs534226	0.93[ASN][1000 genomes]
rs559839	0.92[ASN][1000 genomes]
rs604705	0.82[ASN][1000 genomes]
rs618050	0.82[ASN][1000 genomes]
rs623380	0.85[ASN][1000 genomes]
rs624106	0.89[ASN][1000 genomes]
rs640284	0.85[ASN][1000 genomes]
rs642428	0.92[ASN][1000 genomes]
rs642430	0.92[ASN][1000 genomes]
rs7078662	0.92[EUR][1000 genomes]
rs7085905	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7477200	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs788212	0.88[ASN][1000 genomes]
rs788215	0.89[ASN][1000 genomes]
rs788216	0.89[ASN][1000 genomes]
rs7902034	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7914155	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7917207	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs944909	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17531310	MASTL	cis	Artery Tibial	GTEx
rs17531310	ACBD5	cis	Thyroid	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	chr10:27500800-27528000	Weak transcription	HMEC	breast
11	chr10:27501000-27528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:27503200-27528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr10:27504000-27528200	Weak transcription	Brain Substantia Nigra	brain
14	chr10:27505200-27527800	Weak transcription	Right Ventricle	heart
15	chr10:27505600-27528000	Weak transcription	NHEK	skin
16	chr10:27508400-27528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:27508600-27527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:27508600-27527800	Weak transcription	Colonic Mucosa	Colon
19	chr10:27508600-27529000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:27508800-27522000	Weak transcription	Lung	lung
21	chr10:27508800-27523400	Weak transcription	HepG2	liver
22	chr10:27508800-27527800	Weak transcription	Pancreas	Pancrea
23	chr10:27508800-27527800	Weak transcription	Spleen	Spleen
24	chr10:27508800-27528000	Weak transcription	Brain Germinal Matrix	brain
25	chr10:27508800-27528600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:27508800-27528600	Weak transcription	Esophagus	oesophagus
27	chr10:27508800-27528600	Weak transcription	Thymus	Thymus
28	chr10:27508800-27528600	Weak transcription	HSMMtube	muscle
29	chr10:27508800-27528800	Weak transcription	Aorta	Aorta
30	chr10:27508800-27529000	Weak transcription	Small Intestine	intestine
31	chr10:27509400-27522400	Weak transcription	Ovary	ovary
32	chr10:27509600-27524000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr10:27509600-27526000	Weak transcription	Fetal Heart	heart
34	chr10:27511200-27522000	Weak transcription	GM12878-XiMat	blood
35	chr10:27511200-27528200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:27511800-27527200	Weak transcription	Brain Angular Gyrus	brain
37	chr10:27511800-27527800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr10:27511800-27528200	Weak transcription	Fetal Kidney	kidney
39	chr10:27512200-27520400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr10:27512200-27527800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr10:27512200-27527800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr10:27512200-27528000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:27512200-27528200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr10:27512200-27528200	Weak transcription	Osteobl	bone
45	chr10:27512400-27522200	Weak transcription	Hela-S3	cervix
46	chr10:27512400-27528200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr10:27512400-27528200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr10:27513600-27521000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:27514000-27524400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr10:27514400-27524200	Strong transcription	Primary monocytes fromperipheralblood	blood

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