Variant report

Variant	rs60016681
Chromosome Location	chr5:5426602-5426603
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	chr5:5424641..5426726-chr5:5429522..5431150,2	MCF-7	breast:
2	chr5:5424486..5426778-chr5:5432979..5434770,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12659887	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60221804	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62000446	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72643751	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72643752	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72643753	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72643754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs747515	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021802	chr5:5415877-5452886	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5424000-5427800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:5424000-5428400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:5424200-5427800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:5424400-5427600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:5424400-5427600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:5424400-5428200	Weak transcription	Aorta	Aorta
7	chr5:5424400-5428600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr5:5424400-5431400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:5424400-5433000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:5424400-5433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:5424400-5436800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:5424400-5437200	Weak transcription	Fetal Thymus	thymus
13	chr5:5424400-5437400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:5424400-5437600	Weak transcription	Placenta	Placenta
15	chr5:5424600-5428600	Weak transcription	Fetal Intestine Small	intestine
16	chr5:5424600-5430200	Weak transcription	Fetal Heart	heart
17	chr5:5424600-5430200	ZNF genes & repeats	A549	lung
18	chr5:5424800-5427400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:5424800-5432200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:5424800-5436600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:5424800-5437600	Weak transcription	Fetal Kidney	kidney
22	chr5:5425000-5426800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:5425000-5427600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:5425000-5430200	Weak transcription	HSMMtube	muscle
25	chr5:5425000-5431400	Weak transcription	HMEC	breast
26	chr5:5425000-5432200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:5425000-5432200	Weak transcription	Primary B cells from cord blood	blood
28	chr5:5425000-5436600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:5425000-5436600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:5425000-5437200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:5425000-5437200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:5425000-5437600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:5425000-5437800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:5425000-5443600	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:5425200-5426800	Enhancers	HepG2	liver
36	chr5:5425200-5427400	Enhancers	Dnd41	blood
37	chr5:5425200-5427400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:5425200-5427600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:5425200-5428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:5425200-5429200	Weak transcription	Left Ventricle	heart
41	chr5:5425200-5429200	Weak transcription	Spleen	Spleen
42	chr5:5425200-5429400	Weak transcription	Lung	lung
43	chr5:5425200-5430200	Weak transcription	Osteobl	bone
44	chr5:5425200-5431000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:5425200-5431600	Weak transcription	NHEK	skin
46	chr5:5425200-5432200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:5425200-5432200	Weak transcription	NHDF-Ad	bronchial
48	chr5:5425200-5432400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:5425200-5433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:5425200-5434800	Enhancers	Skeletal Muscle Female	skeletal muscle

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