Variant report

Variant	rs11748027
Chromosome Location	chr5:74909972-74909973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74905446..74908420-chr5:74909324..74911813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189045	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs34341	0.86[ASN][1000 genomes]
rs4549504	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4604177	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4704219	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4704220	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4704221	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4704223	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4704227	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5744552	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5744672	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5744680	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6873472	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6878990	0.83[EUR][1000 genomes]
rs6896136	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7703282	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs984976	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74907800-74912200	Weak transcription	HSMMtube	muscle
2	chr5:74907800-74913000	Weak transcription	Fetal Brain Male	brain
3	chr5:74907800-74921400	Weak transcription	Aorta	Aorta
4	chr5:74907800-74921400	Weak transcription	Lung	lung
5	chr5:74908000-74910000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:74908000-74911800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:74908000-74912000	Weak transcription	Stomach Mucosa	stomach
8	chr5:74908000-74912600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:74908000-74912800	Weak transcription	Placenta	Placenta
10	chr5:74908000-74912800	Weak transcription	HMEC	breast
11	chr5:74908000-74913600	Weak transcription	Colonic Mucosa	Colon
12	chr5:74908000-74916000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:74908200-74911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:74908200-74912600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:74908200-74912600	Weak transcription	Fetal Brain Female	brain
16	chr5:74908200-74918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:74908200-74919600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:74908200-74923600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:74908400-74911200	Weak transcription	Fetal Stomach	stomach
20	chr5:74908400-74911600	Weak transcription	Fetal Kidney	kidney
21	chr5:74908400-74912200	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:74908400-74912200	Weak transcription	NH-A	brain
23	chr5:74908400-74912400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:74908400-74912600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:74908400-74912600	Weak transcription	HSMM	muscle
26	chr5:74908400-74913000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:74908400-74913200	Weak transcription	Osteobl	bone
28	chr5:74908400-74913600	Weak transcription	Gastric	stomach
29	chr5:74908600-74910000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:74908600-74911800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:74908600-74912200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:74908600-74913400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:74908600-74918000	Weak transcription	Small Intestine	intestine
34	chr5:74908600-74920400	Enhancers	Fetal Intestine Small	intestine
35	chr5:74908800-74912600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:74909000-74911400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:74909000-74912400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:74909000-74912800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:74909000-74916000	Weak transcription	A549	lung
40	chr5:74909200-74912200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:74909400-74910400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr5:74909400-74911400	Enhancers	Fetal Intestine Large	intestine
43	chr5:74909600-74911600	Weak transcription	Fetal Lung	lung
44	chr5:74909800-74910200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr5:74909800-74911800	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links