Variant report

Variant	rs12547868
Chromosome Location	chr8:121704205-121704206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10283394	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545570	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4478618	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs57592694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58358774	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73323165	0.90[EUR][1000 genomes]
rs73706703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73706728	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73706735	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73706739	0.81[AMR][1000 genomes]
rs73708633	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73710008	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9297626	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
2	chr8:121680600-121704600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
4	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:121686600-121704400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:121686800-121709000	Weak transcription	Small Intestine	intestine
7	chr8:121690200-121706600	Strong transcription	HepG2	liver
8	chr8:121691400-121705200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:121697400-121705800	Weak transcription	Aorta	Aorta
10	chr8:121697600-121706200	Weak transcription	Esophagus	oesophagus
11	chr8:121697800-121705200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:121697800-121706200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:121697800-121706200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:121697800-121713600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:121697800-121714400	Weak transcription	Placenta	Placenta
16	chr8:121698400-121704600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:121698400-121709000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:121698800-121706200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:121698800-121706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:121699600-121706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:121699800-121714200	Weak transcription	Fetal Thymus	thymus
22	chr8:121700400-121704800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:121701000-121706000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:121701000-121706000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:121701200-121706200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:121701200-121707600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:121701600-121705200	Weak transcription	Left Ventricle	heart
28	chr8:121701800-121705000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:121702400-121706000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:121702400-121706200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:121702600-121706000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:121702800-121706200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:121703000-121704400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:121703000-121704400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:121703000-121704600	Enhancers	Fetal Muscle Leg	muscle
36	chr8:121703000-121706200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:121703000-121714200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:121703200-121705800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:121703200-121706000	Strong transcription	Primary T cells from cord blood	blood
40	chr8:121703600-121704600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:121703600-121705400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:121703600-121706400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr8:121703800-121704400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:121703800-121706200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:121704000-121704400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:121704000-121704400	Enhancers	Right Atrium	heart
47	chr8:121704000-121704400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr8:121704000-121704400	Genic enhancers	NHLF	lung
49	chr8:121704000-121705000	Enhancers	Brain Angular Gyrus	brain
50	chr8:121704000-121705000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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