Variant report

Variant	rs1854340
Chromosome Location	chr10:27525673-27525674
allele	A/G
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	CEBPB	chr10:27525498-27525704	Hela-S3	cervix:	n/a	chr10:27525504-27525515

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:

Variant related genes	Relation type
ENSG00000263577	TF binding region
RNU7-12P	TF binding region
ENSG00000136758	Chromatin interaction
ENSG00000120539	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10829211	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11015613	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1144508	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17531310	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1775352	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1780090	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1780093	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1819352	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1831187	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1831188	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2026015	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2368219	0.85[EUR][1000 genomes]
rs2770200	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2770201	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2780665	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2780666	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780668	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2780670	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2780671	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2780673	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2780678	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2780679	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2797077	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2797079	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2800391	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2800393	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2800394	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800395	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2800397	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2800398	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2800401	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2800403	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800404	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800405	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2800406	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4747595	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4749236	0.80[EUR][1000 genomes]
rs4749239	0.82[EUR][1000 genomes]
rs480738	0.81[EUR][1000 genomes]
rs501495	0.81[EUR][1000 genomes]
rs534226	0.81[EUR][1000 genomes]
rs559839	0.81[EUR][1000 genomes]
rs642428	0.80[EUR][1000 genomes]
rs642430	0.80[EUR][1000 genomes]
rs6482603	0.80[EUR][1000 genomes]
rs692860	0.84[ASN][1000 genomes]
rs7074295	0.80[EUR][1000 genomes]
rs7078662	0.92[EUR][1000 genomes]
rs7085905	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7477200	0.92[EUR][1000 genomes]
rs7902034	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7902126	0.80[EUR][1000 genomes]
rs7914155	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7917207	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs944909	0.88[AMR][1000 genomes];0.93[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1854340	MASTL	cis	Artery Tibial	GTEx
rs1854340	ACBD5	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
4	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:27491800-27527800	Weak transcription	Fetal Brain Male	brain
6	chr10:27494800-27528200	Weak transcription	K562	blood
7	chr10:27500000-27528000	Weak transcription	NHLF	lung
8	chr10:27500000-27528400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr10:27500800-27528000	Weak transcription	HMEC	breast
10	chr10:27501000-27528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:27503200-27528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr10:27504000-27528200	Weak transcription	Brain Substantia Nigra	brain
13	chr10:27505200-27527800	Weak transcription	Right Ventricle	heart
14	chr10:27505600-27528000	Weak transcription	NHEK	skin
15	chr10:27508400-27528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:27508600-27527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:27508600-27527800	Weak transcription	Colonic Mucosa	Colon
18	chr10:27508600-27529000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr10:27508800-27527800	Weak transcription	Pancreas	Pancrea
20	chr10:27508800-27527800	Weak transcription	Spleen	Spleen
21	chr10:27508800-27528000	Weak transcription	Brain Germinal Matrix	brain
22	chr10:27508800-27528600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:27508800-27528600	Weak transcription	Esophagus	oesophagus
24	chr10:27508800-27528600	Weak transcription	Thymus	Thymus
25	chr10:27508800-27528600	Weak transcription	HSMMtube	muscle
26	chr10:27508800-27528800	Weak transcription	Aorta	Aorta
27	chr10:27508800-27529000	Weak transcription	Small Intestine	intestine
28	chr10:27509600-27526000	Weak transcription	Fetal Heart	heart
29	chr10:27511200-27528200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:27511800-27527200	Weak transcription	Brain Angular Gyrus	brain
31	chr10:27511800-27527800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:27511800-27528200	Weak transcription	Fetal Kidney	kidney
33	chr10:27512200-27527800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:27512200-27527800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:27512200-27528000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:27512200-27528200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:27512200-27528200	Weak transcription	Osteobl	bone
38	chr10:27512400-27528200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr10:27512400-27528200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:27515000-27527400	Weak transcription	Primary T cells from cord blood	blood
41	chr10:27516400-27527200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr10:27516600-27528600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:27517000-27527200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr10:27517000-27528400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:27517200-27527800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:27517800-27527800	Weak transcription	Fetal Brain Female	brain
47	chr10:27518400-27527800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:27519800-27528600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:27519800-27528600	Weak transcription	Gastric	stomach
50	chr10:27520200-27528400	Weak transcription	Stomach Smooth Muscle	stomach

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