Variant report

Variant	rs55748765
Chromosome Location	chr12:48241434-48241435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48239486..48242293-chr12:48248497..48250115,2	K562	blood:
2	chr12:48239241..48242168-chr12:48557559..48560161,2	K562	blood:
3	chr12:48240695..48242559-chr12:48243669..48246171,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11574099	0.80[EUR][1000 genomes]
rs11574103	0.90[EUR][1000 genomes]
rs11574114	1.00[EUR][1000 genomes]
rs11574119	0.87[EUR][1000 genomes]
rs11574139	0.90[EUR][1000 genomes]
rs2853563	0.97[EUR][1000 genomes]
rs3858733	0.90[EUR][1000 genomes]
rs58789572	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised 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	78 gene(s)	inside rSNPs	diseases
3	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48227200-48261200	Weak transcription	HSMM	muscle
2	chr12:48231400-48261400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:48232200-48253000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:48232400-48263800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:48232400-48276600	Weak transcription	Pancreas	Pancrea
6	chr12:48233000-48275200	Weak transcription	Hela-S3	cervix
7	chr12:48233800-48242600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:48233800-48242800	Weak transcription	K562	blood
9	chr12:48234600-48252400	Weak transcription	Stomach Mucosa	stomach
10	chr12:48236400-48252000	Strong transcription	Fetal Intestine Small	intestine
11	chr12:48236600-48243400	Strong transcription	HSMMtube	muscle
12	chr12:48236600-48259400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:48237000-48242600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:48237000-48246800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr12:48237000-48252200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr12:48237000-48253200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:48237000-48259000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:48237000-48261800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr12:48237400-48242800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:48237400-48246400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:48237400-48252600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:48237400-48261200	Weak transcription	NH-A	brain
23	chr12:48237800-48243200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:48238000-48242600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:48238400-48244200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:48238400-48244600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:48238600-48244200	Weak transcription	Fetal Lung	lung
28	chr12:48238600-48253400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:48239000-48241600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:48239000-48245600	Weak transcription	Right Atrium	heart
31	chr12:48239200-48242600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:48239200-48242600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:48239200-48244400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:48239600-48241800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:48239600-48242800	Strong transcription	NHEK	skin
36	chr12:48239600-48244200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr12:48239600-48245600	Weak transcription	Adipose Nuclei	Adipose
38	chr12:48239600-48245600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:48240000-48261200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:48240200-48242800	Weak transcription	Placenta	Placenta
41	chr12:48240400-48247600	Weak transcription	Fetal Intestine Large	intestine
42	chr12:48240400-48250600	Weak transcription	Aorta	Aorta
43	chr12:48240600-48244200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:48240600-48244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:48240600-48244200	Weak transcription	NHLF	lung
46	chr12:48240600-48244400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:48240600-48244400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:48240600-48244400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:48240600-48244400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:48240600-48244800	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links