Variant report

Variant	rs143352356
Chromosome Location	chr2:114508126-114508127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114502081..114505265-chr2:114506147..114510534,5	K562	blood:
2	chr2:114505270..114508161-chr2:114512124..114515717,3	K562	blood:
3	chr2:114506134..114509664-chr2:114511925..114515702,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:114461400-114513200	Weak transcription	Small Intestine	intestine
3	chr2:114465200-114512000	Weak transcription	Stomach Mucosa	stomach
4	chr2:114468800-114512800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:114469400-114510400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:114470200-114511200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:114470400-114510800	Strong transcription	HSMM	muscle
8	chr2:114478800-114510600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:114479200-114510400	Strong transcription	Liver	Liver
10	chr2:114481200-114513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:114484000-114511200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:114484400-114510600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:114484600-114512600	Weak transcription	Aorta	Aorta
14	chr2:114485200-114511200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:114487200-114513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:114488400-114512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:114492200-114513000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:114494200-114510400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:114494200-114510600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:114494200-114511000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:114494400-114509400	Strong transcription	Adipose Nuclei	Adipose
22	chr2:114494400-114511200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:114494400-114511600	Strong transcription	Osteobl	bone
24	chr2:114494600-114510400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:114494800-114510200	Strong transcription	HepG2	liver
26	chr2:114495000-114508800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:114495400-114509200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:114495800-114511200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:114495800-114512200	Weak transcription	Fetal Heart	heart
30	chr2:114496200-114510600	Strong transcription	Placenta	Placenta
31	chr2:114496600-114510400	Strong transcription	NHDF-Ad	bronchial
32	chr2:114497600-114510600	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:114498400-114511400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:114499200-114512600	Weak transcription	Esophagus	oesophagus
35	chr2:114500400-114509800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:114500600-114512600	Weak transcription	Hela-S3	cervix
37	chr2:114501400-114512000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:114501800-114510200	Weak transcription	HUVEC	blood vessel
39	chr2:114502000-114512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:114502200-114513000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:114502800-114508400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:114503600-114509000	Strong transcription	Fetal Lung	lung
43	chr2:114503800-114512000	Weak transcription	Fetal Brain Male	brain
44	chr2:114504000-114508400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:114504000-114512000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:114504000-114512600	Weak transcription	Brain Substantia Nigra	brain
47	chr2:114504200-114512200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:114504400-114511800	Strong transcription	Fetal Intestine Small	intestine
49	chr2:114504600-114512600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:114505000-114508400	Strong transcription	Brain Inferior Temporal Lobe	brain

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