Variant report

Variant	rs2297184
Chromosome Location	chr1:180919151-180919152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180917347..180919329-chr1:180925214..180927281,2	MCF-7	breast:
2	chr1:180917120..180919567-chr1:181056846..181059240,2	MCF-7	breast:
3	chr1:180916615..180919845-chr1:181057794..181060599,3	K562	blood:
4	chr1:180917532..180919530-chr1:180930414..180932412,2	K562	blood:
5	chr1:180918890..180922237-chr1:180924310..180927954,4	K562	blood:
6	chr1:180900719..180903154-chr1:180917426..180920329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162783	Chromatin interaction
ENSG00000272198	Chromatin interaction

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

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

rs_ID	r²[population]
rs11799738	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3820313	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4652540	0.96[ASN][1000 genomes]
rs4652542	0.95[ASN][1000 genomes]
rs71630288	0.89[ASN][1000 genomes]
rs870046	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180896800-180921800	Weak transcription	Pancreas	Pancrea
2	chr1:180899000-180920200	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:180899000-180922600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:180900000-180922800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:180900600-180920000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:180904800-180922400	Weak transcription	Colonic Mucosa	Colon
7	chr1:180905200-180919200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:180905400-180922400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:180905400-180940600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:180906200-180919200	Weak transcription	Esophagus	oesophagus
11	chr1:180907800-180922400	Weak transcription	NHDF-Ad	bronchial
12	chr1:180908600-180921800	Weak transcription	Right Atrium	heart
13	chr1:180911600-180921600	Weak transcription	Fetal Heart	heart
14	chr1:180911600-180928400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:180911800-180927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:180912400-180922400	Weak transcription	Stomach Mucosa	stomach
17	chr1:180913200-180920200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:180913200-180921400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:180913400-180921000	Strong transcription	Fetal Intestine Small	intestine
20	chr1:180913800-180919200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:180914600-180919200	Weak transcription	Brain Angular Gyrus	brain
22	chr1:180914800-180922600	Weak transcription	Ovary	ovary
23	chr1:180915000-180919200	Weak transcription	Brain Anterior Caudate	brain
24	chr1:180915200-180919400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:180915400-180920000	Enhancers	Fetal Brain Male	brain
26	chr1:180915400-180922800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:180915600-180920000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:180915600-180922400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:180915800-180920200	Strong transcription	Osteobl	bone
30	chr1:180916000-180922000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:180916200-180919400	Weak transcription	Primary T cells from cord blood	blood
32	chr1:180916200-180922600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:180916400-180920800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:180916400-180922400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:180916400-180922600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:180916400-180922600	Weak transcription	HSMM	muscle
37	chr1:180916600-180919200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:180916600-180919400	Genic enhancers	Fetal Stomach	stomach
39	chr1:180916600-180921800	Weak transcription	HepG2	liver
40	chr1:180916800-180919200	Enhancers	Fetal Brain Female	brain
41	chr1:180916800-180921400	Strong transcription	Fetal Intestine Large	intestine
42	chr1:180916800-180922000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:180916800-180922200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:180916800-180922600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:180916800-180922600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:180917000-180919200	Weak transcription	Left Ventricle	heart
47	chr1:180917000-180919400	Enhancers	Fetal Lung	lung
48	chr1:180917000-180920800	Genic enhancers	Dnd41	blood
49	chr1:180917000-180921000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:180917000-180922400	Weak transcription	Muscle Satellite Cultured Cells	--

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