Variant report

Variant	rs2800405
Chromosome Location	chr10:27515692-27515693
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27511969..27517991-chr10:27527633..27531388,6	K562	blood:
2	chr10:27515384..27517991-chr10:27529316..27532552,3	K562	blood:

Variant related genes	Relation type
ENSG00000262412	Chromatin interaction
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10829211	0.82[EUR][1000 genomes]
rs11015613	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1144508	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1144509	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12763511	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12772875	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1618826	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17531310	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1753387	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1753394	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1775348	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1775352	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1775354	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1780090	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1780093	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1819352	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1831187	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1831188	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1854340	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1974364	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2026015	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2104670	0.80[ASN][1000 genomes]
rs2104671	0.80[ASN][1000 genomes]
rs2368218	0.80[ASN][1000 genomes]
rs2368219	0.85[EUR][1000 genomes]
rs2488368	0.80[ASN][1000 genomes]
rs2488369	0.80[ASN][1000 genomes]
rs2770200	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2770201	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2780665	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2780666	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2780668	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2780669	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2780670	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2780671	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2780673	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2780677	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780678	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2780679	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2797077	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2797079	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800391	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800393	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800394	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800395	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800397	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800398	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2800399	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2800401	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800402	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2800403	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2800404	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2800406	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35209475	0.91[ASN][1000 genomes]
rs4747589	0.82[EUR][1000 genomes]
rs4747595	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749236	0.84[EUR][1000 genomes]
rs4749238	0.80[EUR][1000 genomes]
rs4749239	0.87[EUR][1000 genomes]
rs480738	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs484172	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs501495	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs527192	0.83[ASN][1000 genomes]
rs534226	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs559839	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs604705	0.83[ASN][1000 genomes]
rs618050	0.83[ASN][1000 genomes]
rs623380	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs624106	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs640284	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs642428	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs642430	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6482603	0.84[EUR][1000 genomes]
rs6482604	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7074295	0.84[EUR][1000 genomes]
rs7078662	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7085905	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7477200	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs788199	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs788201	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs788202	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs788203	0.80[ASN][1000 genomes]
rs788205	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs788207	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs788212	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs788215	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs788216	0.98[ASN][1000 genomes]
rs788230	0.81[ASN][1000 genomes]
rs788232	0.81[ASN][1000 genomes]
rs7902034	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7902126	0.84[EUR][1000 genomes]
rs7914155	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7917207	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs944909	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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
rs2800405	MASTL	cis	Artery Tibial	GTEx
rs2800405	ACBD5	cis	Thyroid	GTEx

Chromatin state (count:121 , 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	chr10:27504000-27528200	Weak transcription	Brain Substantia Nigra	brain
15	chr10:27505200-27527800	Weak transcription	Right Ventricle	heart
16	chr10:27505600-27519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:27505600-27528000	Weak transcription	NHEK	skin
18	chr10:27506000-27519800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:27508400-27528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:27508600-27516400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:27508600-27519800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:27508600-27527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:27508600-27527800	Weak transcription	Colonic Mucosa	Colon
24	chr10:27508600-27529000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr10:27508800-27516200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr10:27508800-27516600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:27508800-27518200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:27508800-27519400	Weak transcription	Gastric	stomach
29	chr10:27508800-27522000	Weak transcription	Lung	lung
30	chr10:27508800-27523400	Weak transcription	HepG2	liver
31	chr10:27508800-27527800	Weak transcription	Pancreas	Pancrea
32	chr10:27508800-27527800	Weak transcription	Spleen	Spleen
33	chr10:27508800-27528000	Weak transcription	Brain Germinal Matrix	brain
34	chr10:27508800-27528600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr10:27508800-27528600	Weak transcription	Esophagus	oesophagus
36	chr10:27508800-27528600	Weak transcription	Thymus	Thymus
37	chr10:27508800-27528600	Weak transcription	HSMMtube	muscle
38	chr10:27508800-27528800	Weak transcription	Aorta	Aorta
39	chr10:27508800-27529000	Weak transcription	Small Intestine	intestine
40	chr10:27509400-27522400	Weak transcription	Ovary	ovary
41	chr10:27509600-27524000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:27509600-27526000	Weak transcription	Fetal Heart	heart
43	chr10:27510000-27518600	Weak transcription	Brain Anterior Caudate	brain
44	chr10:27510000-27518600	Weak transcription	NHDF-Ad	bronchial
45	chr10:27510600-27516200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr10:27511200-27522000	Weak transcription	GM12878-XiMat	blood
47	chr10:27511200-27528200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:27511800-27527200	Weak transcription	Brain Angular Gyrus	brain
49	chr10:27511800-27527800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr10:27511800-27528200	Weak transcription	Fetal Kidney	kidney

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