Variant report

Variant	rs2800391
Chromosome Location	chr10:27523721-27523722
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	FOXA2	chr10:27523067-27523739	A549	lung:	n/a	chr10:27523381-27523393

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27523074..27525459-chr10:27528062..27530998,5	K562	blood:

Variant related genes	Relation type
RNU7-12P	TF binding region
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11015613	0.83[EUR][1000 genomes]
rs1144508	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1144509	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12763511	0.81[EUR][1000 genomes]
rs17531310	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1753387	0.81[EUR][1000 genomes]
rs1775348	0.81[EUR][1000 genomes]
rs1775352	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1775354	0.81[EUR][1000 genomes]
rs1780090	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1780093	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819352	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1831186	0.80[ASN][1000 genomes]
rs1831187	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1831188	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1854340	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1974364	0.81[EUR][1000 genomes]
rs2026015	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2104670	0.85[ASN][1000 genomes]
rs2104671	0.85[ASN][1000 genomes]
rs2368218	0.85[ASN][1000 genomes]
rs2368219	0.85[EUR][1000 genomes]
rs2368221	0.80[ASN][1000 genomes]
rs2488368	0.83[ASN][1000 genomes]
rs2488369	0.83[ASN][1000 genomes]
rs2489374	0.83[ASN][1000 genomes]
rs2770200	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2770201	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2780665	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2780666	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2780668	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2780669	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2780670	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780671	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780673	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780677	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2780678	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2780679	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2797077	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2797079	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797080	0.80[ASN][1000 genomes]
rs2800393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800395	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800397	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2800398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2800399	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800401	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2800402	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2800403	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800404	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2800405	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800406	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2800407	0.80[ASN][1000 genomes]
rs35209475	0.93[ASN][1000 genomes]
rs4747595	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4749236	0.81[EUR][1000 genomes]
rs4749239	0.84[EUR][1000 genomes]
rs480738	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs484172	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs501495	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs527192	0.87[ASN][1000 genomes]
rs534226	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs559839	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576161	0.84[ASN][1000 genomes]
rs604705	0.87[ASN][1000 genomes]
rs618050	0.87[ASN][1000 genomes]
rs623380	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs624106	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs630317	0.80[ASN][1000 genomes]
rs640284	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs642428	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642430	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6482603	0.81[EUR][1000 genomes]
rs7074295	0.81[EUR][1000 genomes]
rs7078662	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7085905	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7477200	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs788212	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs788215	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs788216	0.94[ASN][1000 genomes]
rs7902034	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7902126	0.81[EUR][1000 genomes]
rs7914155	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917207	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs944909	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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
rs2800391	ACBD5	cis	Thyroid	GTEx
rs2800391	MASTL	cis	Artery Tibial	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	chr10:27500800-27528000	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	chr10:27508800-27527800	Weak transcription	Pancreas	Pancrea
21	chr10:27508800-27527800	Weak transcription	Spleen	Spleen
22	chr10:27508800-27528000	Weak transcription	Brain Germinal Matrix	brain
23	chr10:27508800-27528600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr10:27508800-27528600	Weak transcription	Esophagus	oesophagus
25	chr10:27508800-27528600	Weak transcription	Thymus	Thymus
26	chr10:27508800-27528600	Weak transcription	HSMMtube	muscle
27	chr10:27508800-27528800	Weak transcription	Aorta	Aorta
28	chr10:27508800-27529000	Weak transcription	Small Intestine	intestine
29	chr10:27509600-27524000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:27509600-27526000	Weak transcription	Fetal Heart	heart
31	chr10:27511200-27528200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:27511800-27527200	Weak transcription	Brain Angular Gyrus	brain
33	chr10:27511800-27527800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr10:27511800-27528200	Weak transcription	Fetal Kidney	kidney
35	chr10:27512200-27527800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:27512200-27527800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:27512200-27528000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:27512200-27528200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr10:27512200-27528200	Weak transcription	Osteobl	bone
40	chr10:27512400-27528200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:27512400-27528200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:27514000-27524400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr10:27514400-27524200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr10:27515000-27527400	Weak transcription	Primary T cells from cord blood	blood
45	chr10:27515200-27524600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr10:27515400-27525000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:27515600-27524400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:27515800-27524800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:27516000-27524400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:27516200-27524200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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