Variant report

Variant	rs7525223
Chromosome Location	chr1:180917275-180917276
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180917120..180919567-chr1:181056846..181059240,2	MCF-7	breast:
2	chr1:180913861..180917662-chr1:180919365..180922791,5	K562	blood:
3	chr1:180917141..180918926-chr1:181056496..181058253,2	MCF-7	breast:
4	chr1:180916490..180918262-chr1:180924986..180926486,2	K562	blood:
5	chr1:180917167..180919032-chr1:180930403..180931914,2	K562	blood:
6	chr1:180916615..180919845-chr1:181057794..181060599,3	K562	blood:
7	chr1:180915349..180917340-chr1:181062256..181064387,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL162431.1-3	chr1:180914570-180917599	NONHSAT008274

No data

Variant related genes	Relation type
ENSG00000272198	Chromatin interaction
ENSG00000162783	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10737352	0.81[ASN][1000 genomes]
rs10753230	0.81[ASN][1000 genomes]
rs10753231	0.82[ASN][1000 genomes]
rs10798796	0.81[ASN][1000 genomes]
rs10914142	0.82[ASN][1000 genomes]
rs12145907	0.83[ASN][1000 genomes]
rs3737061	0.82[ASN][1000 genomes]
rs3737062	0.82[ASN][1000 genomes]
rs4652543	0.82[ASN][1000 genomes]
rs7537859	0.82[ASN][1000 genomes]
rs7538053	0.82[ASN][1000 genomes]
rs7551728	0.82[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180896400-180917400	Weak transcription	Fetal Kidney	kidney
2	chr1:180896800-180921800	Weak transcription	Pancreas	Pancrea
3	chr1:180899000-180920200	Strong transcription	Stomach Smooth Muscle	stomach
4	chr1:180899000-180922600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:180900000-180922800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:180900600-180920000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:180904800-180922400	Weak transcription	Colonic Mucosa	Colon
8	chr1:180905200-180919200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:180905400-180918000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:180905400-180922400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:180905400-180940600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:180906200-180919200	Weak transcription	Esophagus	oesophagus
13	chr1:180907800-180922400	Weak transcription	NHDF-Ad	bronchial
14	chr1:180908600-180921800	Weak transcription	Right Atrium	heart
15	chr1:180911400-180917400	Weak transcription	K562	blood
16	chr1:180911600-180921600	Weak transcription	Fetal Heart	heart
17	chr1:180911600-180928400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:180911800-180918200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:180911800-180927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:180912000-180918200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:180912400-180922400	Weak transcription	Stomach Mucosa	stomach
22	chr1:180913000-180917400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:180913200-180918400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:180913200-180918600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:180913200-180920200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:180913200-180921400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:180913400-180918200	Strong transcription	Aorta	Aorta
28	chr1:180913400-180918400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:180913400-180918600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr1:180913400-180921000	Strong transcription	Fetal Intestine Small	intestine
31	chr1:180913800-180918000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:180913800-180919200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:180914000-180917600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:180914000-180919000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:180914200-180918800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:180914400-180917400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
37	chr1:180914400-180918800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:180914600-180918200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:180914600-180918200	Enhancers	Fetal Thymus	thymus
40	chr1:180914600-180919200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:180914800-180922600	Weak transcription	Ovary	ovary
42	chr1:180915000-180919200	Weak transcription	Brain Anterior Caudate	brain
43	chr1:180915200-180919400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:180915400-180917800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:180915400-180917800	ZNF genes & repeats	NHEK	skin
46	chr1:180915400-180918400	ZNF genes & repeats	HMEC	breast
47	chr1:180915400-180920000	Enhancers	Fetal Brain Male	brain
48	chr1:180915400-180922800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:180915600-180918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:180915600-180920000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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