Variant report

Variant	rs1049524
Chromosome Location	chr5:36687393-36687394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36679517..36682118-chr5:36687238..36691565,3	MCF-7	breast:
2	chr5:36635646..36637375-chr5:36686162..36687870,2	MCF-7	breast:
3	chr5:36680307..36683555-chr5:36684792..36688683,3	K562	blood:

Variant related genes	Relation type
ENSG00000079215	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1122900	0.96[ASN][1000 genomes]
rs56039629	0.81[AFR][1000 genomes]
rs60229781	0.84[AFR][1000 genomes]
rs61496493	0.84[AFR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1049524	CTD-2353F22.1	cis	Whole Blood	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36655400-36690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:36658200-36690000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:36659000-36689400	Weak transcription	Osteobl	bone
4	chr5:36662000-36690000	Weak transcription	Psoas Muscle	Psoas
5	chr5:36663000-36689600	Weak transcription	Fetal Brain Female	brain
6	chr5:36666000-36690000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:36667400-36688200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:36667600-36689200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:36668200-36690000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:36668400-36689200	Weak transcription	NHEK	skin
11	chr5:36668600-36690000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:36671400-36690200	Weak transcription	Pancreas	Pancrea
13	chr5:36673600-36689400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:36673600-36689800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:36674200-36690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:36674400-36689400	Weak transcription	HMEC	breast
17	chr5:36674400-36690000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:36676800-36689200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:36677400-36690000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:36678000-36689400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:36678000-36690200	Weak transcription	Lung	lung
22	chr5:36679000-36690200	Weak transcription	Gastric	stomach
23	chr5:36680000-36690000	Weak transcription	Right Ventricle	heart
24	chr5:36680000-36690200	Weak transcription	Hela-S3	cervix
25	chr5:36680800-36688600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:36682200-36690200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:36684200-36693200	Weak transcription	Spleen	Spleen
28	chr5:36684600-36687400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:36684600-36689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:36684600-36689400	Weak transcription	Brain Angular Gyrus	brain
31	chr5:36684600-36689400	Weak transcription	Esophagus	oesophagus
32	chr5:36684600-36689400	Weak transcription	NHLF	lung
33	chr5:36684600-36690000	Weak transcription	Fetal Brain Male	brain
34	chr5:36684800-36688800	Weak transcription	Fetal Heart	heart
35	chr5:36684800-36689200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:36684800-36689600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:36685000-36689400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:36685000-36689400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:36685000-36689400	Weak transcription	Brain Anterior Caudate	brain
40	chr5:36685000-36690000	Weak transcription	Adipose Nuclei	Adipose
41	chr5:36685000-36690000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:36685000-36690000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:36685200-36687600	Strong transcription	HSMM	muscle
44	chr5:36685200-36689400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:36685200-36689400	Weak transcription	NHDF-Ad	bronchial
46	chr5:36685200-36690200	Weak transcription	HSMMtube	muscle
47	chr5:36685600-36689400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:36686000-36687400	Strong transcription	Fetal Muscle Leg	muscle
49	chr5:36686000-36689200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:36686000-36689400	Weak transcription	Primary B cells from cord blood	blood

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