Variant report

Variant	rs7424947
Chromosome Location	chr2:189927506-189927507
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10165260	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10176287	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10194618	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3923384	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4128538	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666770	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434322	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6717231	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6750027	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420715	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7422106	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7422861	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7423494	0.91[AMR][1000 genomes]
rs7558610	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592230	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592439	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
2	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
4	chr2:189895200-189940800	Strong transcription	HSMM	muscle
5	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
7	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
8	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:189897200-189934400	Weak transcription	Gastric	stomach
10	chr2:189897400-189932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:189897600-189934000	Weak transcription	Lung	lung
12	chr2:189898400-189938200	Weak transcription	HMEC	breast
13	chr2:189899000-189939200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:189900800-189964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:189901200-189947400	Weak transcription	Fetal Brain Male	brain
16	chr2:189902600-189937000	Strong transcription	NH-A	brain
17	chr2:189904000-189938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:189904400-189934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:189904400-189951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:189904600-189932400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:189907800-189929200	Weak transcription	Liver	Liver
22	chr2:189908000-189927800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:189909200-189936200	Weak transcription	Small Intestine	intestine
24	chr2:189909800-189934200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:189912400-189961600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:189912800-189931200	Weak transcription	Colonic Mucosa	Colon
27	chr2:189914000-189932800	Weak transcription	Fetal Kidney	kidney
28	chr2:189914400-189937000	Strong transcription	Adipose Nuclei	Adipose
29	chr2:189914800-189946800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:189915000-189950600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:189915400-189938200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:189915400-189951000	Strong transcription	Osteobl	bone
33	chr2:189916200-189929200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:189916200-189947600	Weak transcription	Spleen	Spleen
35	chr2:189917800-189929200	Weak transcription	Aorta	Aorta
36	chr2:189917800-189929400	Weak transcription	Placenta	Placenta
37	chr2:189917800-189932600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:189917800-189934400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:189919000-189927600	Weak transcription	Fetal Intestine Large	intestine
40	chr2:189919000-189930200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:189920400-189930400	Strong transcription	NHDF-Ad	bronchial
42	chr2:189921600-189932600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:189921800-189927600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:189921800-189935400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:189922000-189938000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:189922400-189930600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:189922600-189930400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:189922800-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:189923200-189927600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:189923400-189934000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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