Variant report

Variant	rs58548840
Chromosome Location	chr5:74912461-74912462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74907136..74909579-chr5:74911861..74913808,3	K562	blood:
2	chr5:74912024..74914449-chr5:74921744..74924749,4	K562	blood:
3	chr5:74912024..74914449-chr5:74922011..74924010,2	K562	blood:

Variant related genes	Relation type
ENSG00000189045	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1004201	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1363460	1.00[EUR][1000 genomes]
rs16872663	1.00[EUR][1000 genomes]
rs1820647	1.00[EUR][1000 genomes]
rs3097154	1.00[EUR][1000 genomes]
rs3889900	1.00[EUR][1000 genomes]
rs5744573	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5744574	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5744590	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5744614	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5744702	1.00[EUR][1000 genomes]
rs58900885	1.00[EUR][1000 genomes]
rs59896135	1.00[EUR][1000 genomes]
rs6885301	1.00[EUR][1000 genomes]
rs7708710	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74907800-74913000	Weak transcription	Fetal Brain Male	brain
2	chr5:74907800-74921400	Weak transcription	Aorta	Aorta
3	chr5:74907800-74921400	Weak transcription	Lung	lung
4	chr5:74908000-74912600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:74908000-74912800	Weak transcription	Placenta	Placenta
6	chr5:74908000-74912800	Weak transcription	HMEC	breast
7	chr5:74908000-74913600	Weak transcription	Colonic Mucosa	Colon
8	chr5:74908000-74916000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:74908200-74912600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:74908200-74912600	Weak transcription	Fetal Brain Female	brain
11	chr5:74908200-74918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:74908200-74919600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:74908200-74923600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:74908400-74912600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:74908400-74912600	Weak transcription	HSMM	muscle
16	chr5:74908400-74913000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:74908400-74913200	Weak transcription	Osteobl	bone
18	chr5:74908400-74913600	Weak transcription	Gastric	stomach
19	chr5:74908600-74913400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:74908600-74918000	Weak transcription	Small Intestine	intestine
21	chr5:74908600-74920400	Enhancers	Fetal Intestine Small	intestine
22	chr5:74908800-74912600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:74909000-74912800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:74909000-74916000	Weak transcription	A549	lung
25	chr5:74910200-74912600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:74910600-74912600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:74910600-74912800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:74911200-74914000	Enhancers	Fetal Stomach	stomach
29	chr5:74911600-74913200	Enhancers	Fetal Lung	lung
30	chr5:74911600-74914000	Enhancers	Fetal Kidney	kidney
31	chr5:74911800-74913000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:74911800-74913800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:74911800-74913800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:74911800-74913800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:74911800-74914000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:74912000-74912800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:74912000-74913800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:74912000-74914000	Enhancers	Stomach Mucosa	stomach
39	chr5:74912200-74912800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:74912200-74913200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:74912200-74913200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:74912200-74913400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr5:74912200-74913800	Enhancers	Fetal Muscle Leg	muscle
44	chr5:74912200-74914000	Enhancers	HSMMtube	muscle
45	chr5:74912200-74914000	Enhancers	K562	blood
46	chr5:74912200-74914000	Enhancers	NH-A	brain
47	chr5:74912200-74914400	Enhancers	Fetal Intestine Large	intestine
48	chr5:74912400-74912600	Enhancers	Thymus	Thymus
49	chr5:74912400-74913000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:74912400-74913200	Enhancers	HUES64 Cell Line	embryonic stem cell

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