Variant report

Variant	rs12549547
Chromosome Location	chr8:38917660-38917661
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38915849..38919016-chr8:38921261..38923485,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10089487	0.94[JPT][hapmap]
rs10113077	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs10958813	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11777149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11777376	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11787126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056655	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12541231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12543388	0.83[EUR][1000 genomes]
rs12543921	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12546318	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12548006	0.91[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548416	0.83[EUR][1000 genomes]
rs12548948	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13248324	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13256952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268394	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13274567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34070223	0.83[EUR][1000 genomes]
rs34138150	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34185462	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35391544	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35534138	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4129095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4495395	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs4543512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733897	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4733901	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4733905	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4733964	0.81[JPT][hapmap]
rs4733970	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6474516	0.81[JPT][hapmap]
rs66925354	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7832578	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs7838874	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs9643858	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9643904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3445313	chr8:38886844-38936643	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3325011	chr8:38899844-38936643	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv524818	chr8:38912806-38919407	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38890400-38919800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:38896000-38918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:38896000-38925000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:38897600-38918600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:38900600-38918400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:38900600-38925600	Weak transcription	Small Intestine	intestine
8	chr8:38902400-38920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:38903000-38921400	Weak transcription	Fetal Heart	heart
11	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
12	chr8:38906000-38922600	Strong transcription	HSMM	muscle
13	chr8:38906800-38921400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:38908200-38918400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:38909000-38922800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:38910200-38922800	Strong transcription	A549	lung
17	chr8:38910800-38920800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:38911000-38923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:38911200-38918600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:38911200-38918800	Strong transcription	NHEK	skin
21	chr8:38911200-38921000	Strong transcription	Placenta	Placenta
22	chr8:38911200-38921200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:38911200-38922600	Strong transcription	Dnd41	blood
24	chr8:38911200-38923400	Strong transcription	Osteobl	bone
25	chr8:38911400-38917800	Strong transcription	HMEC	breast
26	chr8:38911400-38922000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:38911400-38923600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:38911600-38930000	Weak transcription	Pancreas	Pancrea
29	chr8:38911600-38933200	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:38911800-38921000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:38911800-38923000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:38911800-38923600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:38911800-38923600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
36	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:38912000-38920000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:38912000-38921200	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
40	chr8:38912200-38919800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:38912400-38922600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:38912800-38918800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:38912800-38919200	Strong transcription	Primary B cells from cord blood	blood
44	chr8:38912800-38920400	Strong transcription	NHDF-Ad	bronchial
45	chr8:38912800-38923600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:38912800-38923600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:38913000-38920400	Weak transcription	Stomach Mucosa	stomach
48	chr8:38913200-38920000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr8:38913200-38920200	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr8:38913200-38921000	Strong transcription	Adipose Nuclei	Adipose

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