Variant report

Variant	rs1144510
Chromosome Location	chr10:27535017-27535018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27499802..27501903-chr10:27533601..27536137,2	MCF-7	breast:
2	chr10:27529615..27533136-chr10:27533477..27538101,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD5-1	chr10:27534782-27541235	NR_003525

Variant related genes	Relation type
ENSG00000262412	Chromatin interaction
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10430598	0.88[ASN][1000 genomes]
rs10430599	0.88[ASN][1000 genomes]
rs10764690	0.90[ASN][1000 genomes]
rs10829212	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10829219	0.85[ASN][1000 genomes]
rs10829220	0.85[ASN][1000 genomes]
rs11015626	0.87[ASN][1000 genomes]
rs11015627	0.87[ASN][1000 genomes]
rs1144511	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1148167	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12762457	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1328602	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1780091	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2040038	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2243922	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2770202	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2780667	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2780672	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2780674	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2780675	0.91[ASN][1000 genomes]
rs2780681	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2800392	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4747588	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4749240	0.92[EUR][1000 genomes]
rs4749241	0.86[ASN][1000 genomes]
rs4749242	0.86[ASN][1000 genomes]
rs61849039	0.91[EUR][1000 genomes]
rs7088127	0.87[ASN][1000 genomes]
rs7095530	0.85[ASN][1000 genomes]
rs7895094	0.81[ASN][1000 genomes]
rs7907444	0.87[ASN][1000 genomes]
rs7919523	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1144510	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs1144510	MASTL	cis	Muscle Skeletal	GTEx
rs1144510	MASTL	cis	Whole Blood	GTEx
rs1144510	MASTL	cis	Artery Tibial	GTEx
rs1144510	MASTL	cis	Nerve Tibial	GTEx
rs1144510	MASTL	cis	lung	GTEx
rs1144510	MASTL	cis	Adipose Subcutaneous	GTEx
rs1144510	MASTL	cis	Thyroid	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27532600-27535400	Weak transcription	Left Ventricle	heart
2	chr10:27532600-27536400	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:27532600-27536400	Weak transcription	Right Atrium	heart
4	chr10:27532600-27540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:27532600-27541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:27532600-27541200	Weak transcription	Esophagus	oesophagus
7	chr10:27532600-27541200	Weak transcription	Pancreas	Pancrea
8	chr10:27532600-27541200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:27532800-27535600	Weak transcription	Fetal Intestine Small	intestine
10	chr10:27532800-27536400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:27532800-27536400	Weak transcription	Psoas Muscle	Psoas
12	chr10:27532800-27536600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr10:27532800-27537000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:27532800-27541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr10:27532800-27541000	Weak transcription	Adipose Nuclei	Adipose
16	chr10:27532800-27541200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:27532800-27541200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr10:27532800-27541200	Weak transcription	Right Ventricle	heart
19	chr10:27533000-27535200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:27533000-27535200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:27533000-27535400	Weak transcription	Fetal Intestine Large	intestine
22	chr10:27533000-27536400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:27533000-27541000	Weak transcription	Hela-S3	cervix
24	chr10:27533000-27541200	Weak transcription	Primary T cells from cord blood	blood
25	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:27533000-27541200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr10:27533000-27541200	Weak transcription	Brain Substantia Nigra	brain
29	chr10:27533000-27541200	Weak transcription	Fetal Kidney	kidney
30	chr10:27533200-27535200	Weak transcription	HepG2	liver
31	chr10:27533200-27536400	Weak transcription	Fetal Heart	heart
32	chr10:27534600-27535200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:27535000-27535200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:27535000-27535200	Enhancers	NH-A	brain

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