Variant report

Variant	rs1144508
Chromosome Location	chr10:27533466-27533467
allele	A/C
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	MXI1	chr10:27528804-27533681	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:
2	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
3	chr10:27422273..27425391-chr10:27529619..27533685,5	MCF-7	breast:
4	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:

Variant related genes	Relation type
ACBD5	TF binding region
ENSG00000230445	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000120539	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10829194	0.86[CHB][hapmap]
rs10829211	0.86[ASN][1000 genomes]
rs11015599	0.95[CHB][hapmap]
rs11015613	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1144509	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12255977	0.86[CHB][hapmap]
rs1618826	0.89[CEU][hapmap]
rs17531310	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1753394	0.88[CEU][hapmap]
rs1775352	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1780090	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1780093	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1819352	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1831187	0.94[CEU][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1831188	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1854340	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2026015	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2275752	0.86[CHB][hapmap]
rs2368219	0.87[EUR][1000 genomes]
rs2770200	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2770201	0.94[CEU][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2780665	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2780666	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2780668	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2780670	0.94[CEU][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2780671	0.83[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2780673	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2780677	0.81[EUR][1000 genomes]
rs2780678	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2797077	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2797079	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800391	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2800393	0.94[CEU][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800394	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2800395	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800397	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800398	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800399	0.94[CEU][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs2800401	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2800402	0.81[EUR][1000 genomes]
rs2800403	0.82[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2800404	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2800405	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800406	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3737054	0.85[CHB][hapmap]
rs4747589	0.89[CEU][hapmap];0.85[CHB][hapmap];0.86[GIH][hapmap]
rs4747595	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4749236	0.81[EUR][1000 genomes]
rs4749239	0.82[EUR][1000 genomes]
rs480738	0.82[EUR][1000 genomes]
rs484172	0.81[EUR][1000 genomes]
rs501495	0.82[EUR][1000 genomes]
rs527192	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs534226	0.82[EUR][1000 genomes]
rs559839	0.82[EUR][1000 genomes]
rs604705	0.82[CEU][hapmap]
rs618050	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs623380	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs640284	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs642428	0.82[EUR][1000 genomes]
rs642430	0.82[EUR][1000 genomes]
rs6482603	0.81[EUR][1000 genomes]
rs692860	0.93[ASN][1000 genomes]
rs7074295	0.81[EUR][1000 genomes]
rs7075448	0.86[CHB][hapmap]
rs7078662	0.94[EUR][1000 genomes]
rs7085905	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7477200	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs788201	0.83[CEU][hapmap]
rs788202	0.89[CEU][hapmap]
rs788203	0.89[CEU][hapmap]
rs788212	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs788215	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs788216	0.85[CEU][hapmap]
rs7902034	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7902126	0.81[EUR][1000 genomes]
rs7909444	0.90[CHB][hapmap]
rs7914155	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7917207	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7921222	0.90[CHB][hapmap]
rs944909	0.93[AMR][1000 genomes];0.98[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1144508	MASTL	cis	Artery Tibial	GTEx
rs1144508	ACBD5	cis	Thyroid	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27532600-27534800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:27532600-27535400	Weak transcription	Left Ventricle	heart
3	chr10:27532600-27536400	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:27532600-27536400	Weak transcription	Right Atrium	heart
5	chr10:27532600-27540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:27532600-27541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:27532600-27541200	Weak transcription	Esophagus	oesophagus
8	chr10:27532600-27541200	Weak transcription	Pancreas	Pancrea
9	chr10:27532600-27541200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:27532800-27534600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:27532800-27535600	Weak transcription	Fetal Intestine Small	intestine
12	chr10:27532800-27536400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:27532800-27536400	Weak transcription	Psoas Muscle	Psoas
14	chr10:27532800-27536600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:27532800-27537000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:27532800-27541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:27532800-27541000	Weak transcription	Adipose Nuclei	Adipose
18	chr10:27532800-27541200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr10:27532800-27541200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:27532800-27541200	Weak transcription	Right Ventricle	heart
21	chr10:27533000-27535000	Weak transcription	NH-A	brain
22	chr10:27533000-27535200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:27533000-27535200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:27533000-27535400	Weak transcription	Fetal Intestine Large	intestine
25	chr10:27533000-27536400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:27533000-27541000	Weak transcription	Hela-S3	cervix
27	chr10:27533000-27541200	Weak transcription	Primary T cells from cord blood	blood
28	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:27533000-27541200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr10:27533000-27541200	Weak transcription	Brain Substantia Nigra	brain
32	chr10:27533000-27541200	Weak transcription	Fetal Kidney	kidney
33	chr10:27533200-27533600	Enhancers	Dnd41	blood
34	chr10:27533200-27535200	Weak transcription	HepG2	liver
35	chr10:27533200-27536400	Weak transcription	Fetal Heart	heart

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