Variant report

Variant	rs45540547
Chromosome Location	chr2:113959358-113959359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:113958452..113961536-chr2:113967546..113969977,3	MCF-7	breast:
2	chr2:113958810..113962275-chr2:113967321..113970700,3	K562	blood:
3	chr2:113954800..113956739-chr2:113958061..113960396,3	MCF-7	breast:
4	chr2:113957990..113960310-chr2:113968961..113970700,2	K562	blood:
5	chr2:113957945..113959975-chr2:114003575..114006614,3	MCF-7	breast:
6	chr2:113939010..113941209-chr2:113958366..113960535,2	K562	blood:
7	chr2:113958931..113961853-chr2:113995609..113998129,2	K562	blood:
8	chr2:113950147..113951745-chr2:113959067..113960675,2	K562	blood:
9	chr2:113914860..113918557-chr2:113958560..113960749,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189223	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13394857	1.00[AMR][1000 genomes]
rs36215117	1.00[AMR][1000 genomes]
rs4252015	1.00[AMR][1000 genomes]
rs45445391	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45447495	1.00[AMR][1000 genomes]
rs6718817	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
5	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113940000-113961000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:113942800-113961000	Strong transcription	Dnd41	blood
3	chr2:113947400-113961000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:113947800-113959600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:113947800-113960600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:113948600-113961000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:113949000-113961200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:113950000-113961000	Strong transcription	Primary T cells from cord blood	blood
9	chr2:113956800-113959800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:113956800-113961000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:113956800-113962200	Strong transcription	GM12878-XiMat	blood
12	chr2:113957000-113959600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:113957000-113960600	Strong transcription	Spleen	Spleen
14	chr2:113957200-113959600	Weak transcription	Brain Germinal Matrix	brain
15	chr2:113957200-113959600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:113957200-113959600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:113957200-113959800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:113957200-113960000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:113957200-113960000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:113957200-113960400	Weak transcription	Osteobl	bone
21	chr2:113957200-113960800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:113957200-113961000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:113957200-113961000	Strong transcription	Primary B cells from cord blood	blood
24	chr2:113957200-113961000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:113957200-113961000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:113957200-113961000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:113957200-113961000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:113957200-113961000	Strong transcription	Fetal Thymus	thymus
29	chr2:113957200-113961000	Strong transcription	Thymus	Thymus
30	chr2:113957200-113961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:113957200-113961800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:113957200-113961800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:113957200-113961800	Weak transcription	Right Ventricle	heart
34	chr2:113957200-113969000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:113957200-113969000	Weak transcription	Right Atrium	heart
36	chr2:113957400-113959400	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:113957400-113959600	Weak transcription	Brain Anterior Caudate	brain
38	chr2:113957400-113959800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:113957400-113959800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:113957400-113959800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:113957400-113960000	Weak transcription	Fetal Brain Female	brain
42	chr2:113957400-113960400	Weak transcription	Fetal Kidney	kidney
43	chr2:113957400-113960600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:113957400-113961400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:113957400-113961600	Weak transcription	Brain Angular Gyrus	brain
46	chr2:113957400-113961600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:113957400-113961800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:113957400-113967000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:113957400-113967800	Weak transcription	Adipose Nuclei	Adipose
50	chr2:113957400-113969000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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