Variant report

Variant	rs45500294
Chromosome Location	chr2:113950506-113950507
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:113950180-113950682	GM12891	blood:	n/a	n/a
2	CTCF	chr2:113950360-113950510	HFF	foreskin:	n/a	n/a
3	POLR2A	chr2:113950266-113950752	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:113950138-113950834	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:113950291-113950632	GM12878	blood:	n/a	n/a
6	CTCF	chr2:113950012-113950516	MCF-7	breast:	n/a	chr2:113950228-113950246 chr2:113950230-113950243
7	POLR2A	chr2:113950141-113950778	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:113950070-113950916	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:113949171-113952590	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113895446..113896605-chr2:113950024..113950747,3	MCF-7	breast:
2	chr2:113943264..113945628-chr2:113949034..113951386,2	K562	blood:
3	chr2:113950220..113951864-chr2:113997428..113999954,2	K562	blood:
4	chr2:113950157..113952055-chr2:113952539..113954758,2	MCF-7	breast:
5	chr2:113894412..113895100-chr2:113949933..113951128,3	MCF-7	breast:
6	chr2:113895680..113896559-chr2:113949788..113950725,3	MCF-7	breast:
7	chr2:113930203..113932925-chr2:113950004..113952772,2	K562	blood:
8	chr2:113949542..113953586-chr2:113955251..113958622,5	MCF-7	breast:
9	chr2:113949482..113951925-chr2:113952977..113955662,3	K562	blood:
10	chr2:113894259..113895100-chr2:113949784..113950509,3	MCF-7	breast:

No data

Variant related genes	Relation type
PSD4	TF binding region
ENSG00000125637	Chromatin interaction
ENSG00000234174	Chromatin interaction
ENSG00000125618	Chromatin interaction
ENSG00000258395	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72831808	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv582712	chr2:113932431-113985170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv874898	chr2:113935407-113954247	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv874899	chr2:113935407-113962071	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv874900	chr2:113948378-113967990	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113923000-113956000	Weak transcription	HMEC	breast
3	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:113939400-113956000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:113939400-113956400	Weak transcription	Small Intestine	intestine
6	chr2:113939600-113953800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:113939600-113955400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:113939600-113956200	Weak transcription	Fetal Lung	lung
9	chr2:113940000-113961000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:113942800-113956600	Strong transcription	Fetal Thymus	thymus
11	chr2:113942800-113961000	Strong transcription	Dnd41	blood
12	chr2:113943000-113956200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:113943600-113956200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:113943800-113955200	Weak transcription	Stomach Mucosa	stomach
15	chr2:113943800-113956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:113945600-113951000	Weak transcription	HepG2	liver
17	chr2:113945600-113952000	Weak transcription	K562	blood
18	chr2:113947400-113961000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:113947600-113955800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:113947800-113955200	Strong transcription	Thymus	Thymus
21	chr2:113947800-113956200	Strong transcription	GM12878-XiMat	blood
22	chr2:113947800-113959600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:113947800-113960600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:113948000-113953600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:113948200-113953600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:113948400-113953400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:113948400-113955000	Strong transcription	Liver	Liver
28	chr2:113948600-113951800	Strong transcription	Fetal Intestine Small	intestine
29	chr2:113948600-113952600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:113948600-113954200	Strong transcription	Colonic Mucosa	Colon
31	chr2:113948600-113955400	Strong transcription	Spleen	Spleen
32	chr2:113948600-113955800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:113948600-113961000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:113948800-113952600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:113948800-113955800	Strong transcription	Primary B cells from cord blood	blood
36	chr2:113948800-113955800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:113948800-113955800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:113949000-113953800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:113949000-113955800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:113949000-113956000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:113949000-113956000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:113949000-113961200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:113949600-113954800	Strong transcription	Gastric	stomach
44	chr2:113949800-113951600	Strong transcription	Fetal Stomach	stomach
45	chr2:113949800-113955800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:113950000-113950600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:113950000-113950600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:113950000-113950600	Genic enhancers	Placenta	Placenta
49	chr2:113950000-113950600	Strong transcription	NHEK	skin
50	chr2:113950000-113951000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links