Variant report

Variant	rs1546177
Chromosome Location	chr4:79482409-79482410
allele	G/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:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1546176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546178	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867461	0.82[CHB][hapmap]
rs4975071	0.83[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs931602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[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:70 , 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	chr4:79474400-79486600	Weak transcription	Psoas Muscle	Psoas
4	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
5	chr4:79474600-79488200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:79475600-79483800	Genic enhancers	HMEC	breast
7	chr4:79476800-79486600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:79477200-79483000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:79478400-79483600	Enhancers	HUVEC	blood vessel
10	chr4:79478800-79482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:79478800-79484200	Genic enhancers	NHEK	skin
12	chr4:79478800-79484800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
13	chr4:79478800-79489800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:79480000-79484200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:79480800-79483000	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:79480800-79483200	Genic enhancers	Hela-S3	cervix
17	chr4:79480800-79483400	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:79481200-79484000	Enhancers	NH-A	brain
19	chr4:79481400-79482800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:79481400-79482800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:79481400-79482800	Enhancers	Fetal Stomach	stomach
22	chr4:79481400-79482800	Enhancers	Right Atrium	heart
23	chr4:79481400-79483000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr4:79481400-79483000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:79481400-79483000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:79481400-79483000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:79481400-79483000	Enhancers	Fetal Heart	heart
28	chr4:79481400-79483200	Genic enhancers	Fetal Intestine Large	intestine
29	chr4:79481400-79483200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:79481400-79483200	Enhancers	HSMMtube	muscle
31	chr4:79481400-79483600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:79481400-79483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:79481400-79483600	Enhancers	HSMM	muscle
34	chr4:79481400-79483600	Enhancers	NHLF	lung
35	chr4:79481400-79483800	Enhancers	NHDF-Ad	bronchial
36	chr4:79481400-79483800	Enhancers	Osteobl	bone
37	chr4:79481400-79484000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:79481400-79484000	Enhancers	Stomach Mucosa	stomach
39	chr4:79481400-79484400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:79481400-79484400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr4:79481400-79484600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:79481600-79482600	Enhancers	Placenta	Placenta
43	chr4:79481600-79482600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr4:79481600-79482800	Enhancers	Adipose Nuclei	Adipose
45	chr4:79481600-79482800	Enhancers	Fetal Lung	lung
46	chr4:79481600-79482800	Enhancers	Gastric	stomach
47	chr4:79481600-79483000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:79481600-79483000	Enhancers	Pancreas	Pancrea
49	chr4:79481600-79484600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:79481600-79484600	Enhancers	HUES64 Cell Line	embryonic stem cell

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