Variant report

Variant	rs2561186
Chromosome Location	chr5:68693900-68693901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68691482..68694076-chr5:68695989..68698909,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10035835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10038816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10044508	0.85[AFR][1000 genomes]
rs10064264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10068576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10072904	0.80[EUR][1000 genomes]
rs10077458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10078100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10471774	0.85[AFR][1000 genomes]
rs1168404	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168405	0.81[EUR][1000 genomes]
rs1168406	0.80[EUR][1000 genomes]
rs1168407	0.81[EUR][1000 genomes]
rs1168408	0.80[EUR][1000 genomes]
rs1168409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168410	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1168411	0.81[EUR][1000 genomes]
rs1177556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1177557	0.80[EUR][1000 genomes]
rs1183278	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1183879	0.80[EUR][1000 genomes]
rs1185246	0.80[EUR][1000 genomes]
rs2434507	0.80[EUR][1000 genomes]
rs2561169	0.88[EUR][1000 genomes]
rs2561172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2583699	0.80[EUR][1000 genomes]
rs28703034	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs299075	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs299077	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs299078	0.81[EUR][1000 genomes]
rs299086	0.80[EUR][1000 genomes]
rs299087	0.80[EUR][1000 genomes]
rs299088	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs299090	0.80[EUR][1000 genomes]
rs299091	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs299092	0.80[EUR][1000 genomes]
rs299093	0.80[EUR][1000 genomes]
rs299094	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs299095	0.80[EUR][1000 genomes]
rs299098	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs299099	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs299102	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4252228	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62373187	0.85[AFR][1000 genomes]
rs6450038	0.81[EUR][1000 genomes]
rs7712318	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1018410	chr5:68692244-68822384	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2561186	MRPS36	Cis_1M	lymphoblastoid	RTeQTL
rs2561186	CCDC125	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68666600-68696200	Weak transcription	Pancreas	Pancrea
2	chr5:68666600-68705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68666600-68710800	Weak transcription	Esophagus	oesophagus
4	chr5:68666800-68710600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:68666800-68710600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:68666800-68710800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:68666800-68710800	Weak transcription	Psoas Muscle	Psoas
8	chr5:68667200-68710400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:68667200-68710800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:68667800-68710600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:68668000-68713000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:68668800-68712400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:68669600-68697600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:68669600-68701200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:68669600-68702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:68669600-68702800	Strong transcription	Liver	Liver
17	chr5:68669800-68697600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:68669800-68700400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:68669800-68700800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:68670200-68700800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:68670400-68697400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:68670400-68697600	Strong transcription	Fetal Thymus	thymus
23	chr5:68670600-68702600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:68671200-68702400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:68673800-68699800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:68674000-68699600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:68674200-68702400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:68675400-68705400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:68675600-68696000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:68675600-68708400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:68675800-68696800	Weak transcription	HMEC	breast
32	chr5:68675800-68697600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:68676000-68697800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:68676000-68698000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:68676200-68697600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:68676200-68697800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:68676200-68700200	Strong transcription	Placenta	Placenta
38	chr5:68676200-68701000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:68676400-68697400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:68676400-68697600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr5:68676600-68697800	Strong transcription	Fetal Intestine Large	intestine
42	chr5:68677600-68697600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr5:68677600-68700800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr5:68677800-68705800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:68678600-68710200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:68682600-68695800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:68682600-68697400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:68683000-68697600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:68684000-68699000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr5:68684600-68700400	Strong transcription	Adipose Nuclei	Adipose

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