Variant report

Variant	rs60229781
Chromosome Location	chr5:36690843-36690844
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36666970..36669597-chr5:36688949..36691021,2	MCF-7	breast:
2	chr5:36602570..36603716-chr5:36690159..36691138,5	MCF-7	breast:
3	chr5:36679517..36682118-chr5:36687238..36691565,3	MCF-7	breast:
4	chr5:36414523..36415507-chr5:36690444..36691337,4	MCF-7	breast:
5	chr5:36670007..36672138-chr5:36689642..36692155,2	K562	blood:
6	chr5:36405950..36408490-chr5:36690629..36693199,2	MCF-7	breast:
7	chr5:36414601..36415558-chr5:36689948..36691438,6	MCF-7	breast:
8	chr5:36690529..36693380-chr5:36876216..36878576,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079215	Chromatin interaction
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1049524	0.84[AFR][1000 genomes]
rs61496493	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv969921	chr5:36645147-36696229	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv880571	chr5:36675699-36710205	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv528986	chr5:36689363-36692112	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60229781	CTD-2353F22.1	cis	Whole Blood	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36684200-36693200	Weak transcription	Spleen	Spleen
2	chr5:36689400-36691000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:36690000-36691000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:36690000-36691000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr5:36690000-36691000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:36690000-36691000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:36690000-36691000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:36690000-36691000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:36690000-36691000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:36690000-36691000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr5:36690000-36691000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr5:36690000-36691000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr5:36690000-36691000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:36690000-36691000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:36690000-36691000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr5:36690000-36691000	Active TSS	Brain Germinal Matrix	brain
17	chr5:36690000-36691000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr5:36690000-36691000	Flanking Active TSS	GM12878-XiMat	blood
19	chr5:36690000-36691000	Bivalent/Poised TSS	HepG2	liver
20	chr5:36690000-36691000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr5:36690000-36691000	Flanking Active TSS	Osteobl	bone
22	chr5:36690000-36691200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:36690000-36691400	Flanking Active TSS	HMEC	breast
24	chr5:36690000-36691600	Flanking Active TSS	NHDF-Ad	bronchial
25	chr5:36690200-36691000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:36690200-36691000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr5:36690200-36691000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:36690200-36691000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr5:36690200-36691000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:36690200-36691000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr5:36690200-36691000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr5:36690200-36691000	Flanking Active TSS	Liver	Liver
33	chr5:36690200-36691000	Enhancers	Fetal Brain Male	brain
34	chr5:36690200-36691000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr5:36690200-36691000	Active TSS	Rectal Smooth Muscle	rectum
36	chr5:36690400-36691000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:36690400-36691000	Active TSS	Esophagus	oesophagus
38	chr5:36690400-36691000	Flanking Active TSS	Placenta	Placenta
39	chr5:36690600-36691000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:36690600-36691000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:36690600-36691000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:36690600-36691000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:36690600-36691000	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr5:36690600-36691000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:36690600-36691000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr5:36690600-36691000	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr5:36690600-36691000	Active TSS	Colonic Mucosa	Colon
48	chr5:36690600-36691000	Flanking Active TSS	Fetal Brain Female	brain
49	chr5:36690600-36691000	Flanking Active TSS	Fetal Lung	lung
50	chr5:36690600-36691000	Enhancers	Gastric	stomach

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