Variant report

Variant	rs558328266
Chromosome Location	chr2:183901948-183901949
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183860715..183863358-chr2:183901045..183903186,2	K562	blood:
2	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
3	chr2:183900058..183902325-chr2:183948549..183950456,2	K562	blood:
4	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
5	chr2:183871994..183874914-chr2:183897971..183902484,5	MCF-7	breast:
6	chr2:183901834..183904723-chr4:83350350..83352615,2	K562	blood:
7	chr2:183901739..183903655-chr2:187454012..187455892,2	MCF-7	breast:
8	chr2:183900414..183906188-chr2:183987961..183990917,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152795	Chromatin interaction
ENSG00000145293	Chromatin interaction
ENSG00000138448	Chromatin interaction
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3374901	chr2:183901532-183904080	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
8	esv3405975	chr2:183901932-183904480	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183846000-183902000	Weak transcription	Lung	lung
2	chr2:183878800-183902000	Weak transcription	Esophagus	oesophagus
3	chr2:183889800-183902000	Weak transcription	Gastric	stomach
4	chr2:183894600-183902000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:183894600-183902000	Weak transcription	Pancreas	Pancrea
6	chr2:183899600-183903800	Active TSS	Brain Angular Gyrus	brain
7	chr2:183899600-183904200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:183899800-183903400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr2:183899800-183903600	Active TSS	K562	blood
10	chr2:183899800-183903800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:183899800-183904000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:183900000-183902200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:183900000-183903600	Active TSS	HMEC	breast
14	chr2:183900200-183902200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:183900200-183902400	Active TSS	Fetal Brain Male	brain
16	chr2:183900200-183902400	Active TSS	Right Atrium	heart
17	chr2:183900200-183903600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:183900200-183903600	Active TSS	Hela-S3	cervix
19	chr2:183900200-183903600	Active TSS	NHLF	lung
20	chr2:183900200-183903800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:183900200-183904000	Active TSS	Aorta	Aorta
22	chr2:183900200-183904000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:183900200-183904000	Active TSS	Psoas Muscle	Psoas
24	chr2:183900400-183902000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:183900400-183902000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:183900400-183902400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:183900400-183902400	Enhancers	Dnd41	blood
28	chr2:183900400-183903400	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr2:183900400-183903800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:183900400-183904000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:183900400-183904000	Active TSS	Right Ventricle	heart
32	chr2:183900600-183902000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:183900600-183902000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:183900600-183902400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr2:183900600-183903400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:183900600-183903600	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr2:183900600-183903600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:183900600-183903600	Active TSS	HSMM	muscle
39	chr2:183900600-183903600	Active TSS	HSMMtube	muscle
40	chr2:183900600-183903800	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr2:183900600-183903800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:183900600-183904000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr2:183900800-183902400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr2:183900800-183903600	Active TSS	Fetal Intestine Small	intestine
45	chr2:183900800-183903600	Active TSS	NHEK	skin
46	chr2:183900800-183903800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:183900800-183903800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:183900800-183903800	Active TSS	Fetal Intestine Large	intestine
49	chr2:183900800-183904200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:183900800-183904200	Active TSS	Stomach Smooth Muscle	stomach

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