Variant report

Variant	rs45490293
Chromosome Location	chr2:113960205-113960206
allele	G/T
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr2:113959536..113962611-chr2:113992413..113994769,3	K562	blood:
4	chr17:37009598..37010450-chr2:113960020..113960913,2	NB4	blood:
5	chr2:113954800..113956739-chr2:113958061..113960396,3	MCF-7	breast:
6	chr2:113957990..113960310-chr2:113968961..113970700,2	K562	blood:
7	chr2:113939010..113941209-chr2:113958366..113960535,2	K562	blood:
8	chr2:113958931..113961853-chr2:113995609..113998129,2	K562	blood:
9	chr2:113955184..113958187-chr2:113960029..113962112,5	MCF-7	breast:
10	chr2:113950147..113951745-chr2:113959067..113960675,2	K562	blood:
11	chr2:113914860..113918557-chr2:113958560..113960749,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL1RN-5	chr2:113960078-113960494	NONHSAT073751

No data

Variant related genes	Relation type
ENSG00000125618	Chromatin interaction
ENSG00000125637	Chromatin interaction
ENSG00000189223	Chromatin interaction
ENSG00000125691	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11884780	1.00[AMR][1000 genomes]
rs34338955	1.00[AMR][1000 genomes]
rs35556131	1.00[AMR][1000 genomes]
rs4251992	1.00[AMR][1000 genomes]
rs4252004	1.00[AMR][1000 genomes]
rs4252032	1.00[AMR][1000 genomes]
rs4252034	1.00[AMR][1000 genomes]
rs45447491	1.00[AMR][1000 genomes]
rs58914728	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:101 , 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	chr2:113947800-113960600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:113948600-113961000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:113949000-113961200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:113950000-113961000	Strong transcription	Primary T cells from cord blood	blood
8	chr2:113956800-113961000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:113956800-113962200	Strong transcription	GM12878-XiMat	blood
10	chr2:113957000-113960600	Strong transcription	Spleen	Spleen
11	chr2:113957200-113960400	Weak transcription	Osteobl	bone
12	chr2:113957200-113960800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:113957200-113961000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:113957200-113961000	Strong transcription	Primary B cells from cord blood	blood
15	chr2:113957200-113961000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr2:113957200-113961000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:113957200-113961000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:113957200-113961000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:113957200-113961000	Strong transcription	Fetal Thymus	thymus
20	chr2:113957200-113961000	Strong transcription	Thymus	Thymus
21	chr2:113957200-113961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:113957200-113961800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:113957200-113961800	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:113957200-113961800	Weak transcription	Right Ventricle	heart
25	chr2:113957200-113969000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:113957200-113969000	Weak transcription	Right Atrium	heart
27	chr2:113957400-113960400	Weak transcription	Fetal Kidney	kidney
28	chr2:113957400-113960600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:113957400-113961400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:113957400-113961600	Weak transcription	Brain Angular Gyrus	brain
31	chr2:113957400-113961600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:113957400-113961800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:113957400-113967000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:113957400-113967800	Weak transcription	Adipose Nuclei	Adipose
35	chr2:113957400-113969000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:113957400-113982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:113957600-113960400	Strong transcription	Lung	lung
38	chr2:113957600-113960600	Genic enhancers	Esophagus	oesophagus
39	chr2:113957600-113960600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:113957600-113960800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:113957600-113961000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:113957600-113961000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:113957600-113961000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:113957800-113960400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:113957800-113961000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:113957800-113961000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:113958000-113962200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:113958000-113975200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:113958200-113960800	Strong transcription	Liver	Liver
50	chr2:113958200-113961200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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