Variant report

Variant	rs1546178
Chromosome Location	chr4:79482186-79482187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79481834..79483638-chr4:79484393..79486934,2	K562	blood:
2	chr4:79480977..79482887-chr4:79485454..79487082,2	MCF-7	breast:
3	chr4:79481834..79484233-chr4:79484393..79486934,3	K562	blood:
4	chr4:79442586..79444586-chr4:79481129..79483159,2	K562	blood:
5	chr4:79463825..79467444-chr4:79478158..79482300,4	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1546176	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546177	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975071	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs931602	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79473400-79485400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:79473600-79487200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:79474000-79482200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:79474400-79486600	Weak transcription	Psoas Muscle	Psoas
5	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
6	chr4:79474600-79482400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:79474600-79488200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:79475600-79482200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:79475600-79483800	Genic enhancers	HMEC	breast
10	chr4:79476800-79486600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:79477200-79483000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:79478400-79483600	Enhancers	HUVEC	blood vessel
13	chr4:79478800-79482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:79478800-79484200	Genic enhancers	NHEK	skin
15	chr4:79478800-79484800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:79478800-79489800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:79480000-79484200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:79480800-79482400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:79480800-79483000	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:79480800-79483200	Genic enhancers	Hela-S3	cervix
21	chr4:79480800-79483400	Enhancers	Stomach Smooth Muscle	stomach
22	chr4:79481000-79482200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:79481200-79484000	Enhancers	NH-A	brain
24	chr4:79481400-79482800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:79481400-79482800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:79481400-79482800	Enhancers	Fetal Stomach	stomach
27	chr4:79481400-79482800	Enhancers	Right Atrium	heart
28	chr4:79481400-79483000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:79481400-79483000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:79481400-79483000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:79481400-79483000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:79481400-79483000	Enhancers	Fetal Heart	heart
33	chr4:79481400-79483200	Genic enhancers	Fetal Intestine Large	intestine
34	chr4:79481400-79483200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr4:79481400-79483200	Enhancers	HSMMtube	muscle
36	chr4:79481400-79483600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:79481400-79483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:79481400-79483600	Enhancers	HSMM	muscle
39	chr4:79481400-79483600	Enhancers	NHLF	lung
40	chr4:79481400-79483800	Enhancers	NHDF-Ad	bronchial
41	chr4:79481400-79483800	Enhancers	Osteobl	bone
42	chr4:79481400-79484000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:79481400-79484000	Enhancers	Stomach Mucosa	stomach
44	chr4:79481400-79484400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:79481400-79484400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:79481400-79484600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:79481600-79482400	Enhancers	K562	blood
48	chr4:79481600-79482600	Enhancers	Placenta	Placenta
49	chr4:79481600-79482600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr4:79481600-79482800	Enhancers	Adipose Nuclei	Adipose

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