Variant report

Variant	rs55758172
Chromosome Location	chr11:45834201-45834202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45834102-45834924	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:45834182-45834235	K562	blood:	n/a	n/a
3	POLR2A	chr11:45833967-45835192	PFSK-1	brain:	n/a	n/a
4	CEBPB	chr11:45834183-45834244	K562	blood:	n/a	n/a
5	POLR2A	chr11:45834125-45834337	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:45834068-45834259	ProgFib	skin:	n/a	n/a
7	POLR2A	chr11:45833433-45835840	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:45834121-45834936	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:45832990-45836303	K562	blood:	n/a	n/a
10	POLR2A	chr11:45833918-45835059	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr11:45834139-45834675	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:45833221-45835005	A549	lung:	n/a	n/a
13	POLR2A	chr11:45834190-45834455	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:45834120-45835080	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45833116..45834874-chr11:45867735..45869641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255447	TF binding region
ENSG00000121671	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4756026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4756029	0.90[ASN][1000 genomes]
rs56131686	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45828000-45837200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:45828000-45837200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:45829200-45835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:45829600-45834400	Strong transcription	Esophagus	oesophagus
5	chr11:45829600-45834400	Strong transcription	NHLF	lung
6	chr11:45829600-45834800	Strong transcription	Primary T cells from cord blood	blood
7	chr11:45829600-45834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:45829600-45834800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:45829600-45835000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:45829600-45835200	Strong transcription	Fetal Stomach	stomach
11	chr11:45829600-45835800	Weak transcription	HSMM	muscle
12	chr11:45829600-45836000	Weak transcription	HepG2	liver
13	chr11:45829800-45834400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:45829800-45834600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr11:45829800-45835400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:45830000-45834400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:45830000-45834400	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr11:45830000-45834600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:45830000-45834600	Weak transcription	Small Intestine	intestine
20	chr11:45830200-45834400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:45830200-45834800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:45830200-45835000	Strong transcription	Fetal Intestine Small	intestine
23	chr11:45830400-45834400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:45830600-45834400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:45830800-45834400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:45830800-45834400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:45831000-45834400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:45831000-45834400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:45831200-45835000	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:45831200-45837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:45831400-45834800	Weak transcription	K562	blood
32	chr11:45831600-45834400	Strong transcription	Brain Hippocampus Middle	brain
33	chr11:45831600-45834600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:45831600-45835000	Strong transcription	Dnd41	blood
35	chr11:45831600-45837400	Weak transcription	Hela-S3	cervix
36	chr11:45831800-45834400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:45831800-45834400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:45831800-45834400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:45831800-45834400	Strong transcription	Fetal Thymus	thymus
40	chr11:45831800-45834400	Strong transcription	Pancreas	Pancrea
41	chr11:45831800-45834600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:45831800-45834600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr11:45831800-45834600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:45831800-45835000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:45832000-45834400	Strong transcription	Fetal Lung	lung
46	chr11:45832000-45834800	Strong transcription	Fetal Brain Female	brain
47	chr11:45832000-45838600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:45832200-45834400	Strong transcription	Aorta	Aorta
49	chr11:45832200-45834400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:45832200-45839600	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links