Variant report

Variant	rs12420608
Chromosome Location	chr11:101992349-101992350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12417236	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1942681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4754040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4754832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57102842	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58421489	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58715614	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59739003	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73577816	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73577857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73577867	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73577889	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73577900	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73579981	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73582014	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101983400-101998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:101983600-101998000	Weak transcription	Right Ventricle	heart
3	chr11:101983600-101998200	Weak transcription	Colonic Mucosa	Colon
4	chr11:101983600-102014800	Weak transcription	Pancreas	Pancrea
5	chr11:101985200-101998000	Weak transcription	Gastric	stomach
6	chr11:101985200-102009200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:101986800-101995400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:101986800-101995600	Weak transcription	Right Atrium	heart
9	chr11:101987400-101995000	Weak transcription	Placenta	Placenta
10	chr11:101987400-101996600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:101988600-101992400	Genic enhancers	Fetal Lung	lung
12	chr11:101988800-102009000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:101988800-102009600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:101989600-102015200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:101990000-101992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:101990000-101992600	Weak transcription	Lung	lung
17	chr11:101990000-101992600	Enhancers	Osteobl	bone
18	chr11:101990000-101992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:101990000-101995400	Weak transcription	Aorta	Aorta
20	chr11:101990000-101995400	Weak transcription	Esophagus	oesophagus
21	chr11:101990000-101995400	Weak transcription	Left Ventricle	heart
22	chr11:101990000-101995800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:101990600-101992400	Enhancers	Adipose Nuclei	Adipose
24	chr11:101991000-101992400	Genic enhancers	NHEK	skin
25	chr11:101991000-102009000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:101991000-102010000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:101991200-101992600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:101991200-101992800	Enhancers	NHDF-Ad	bronchial
29	chr11:101991200-101993000	Strong transcription	Fetal Intestine Large	intestine
30	chr11:101991200-101993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:101991400-101994000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:101991400-101995400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:101991400-101996600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:101991400-101997200	Weak transcription	Liver	Liver
35	chr11:101991400-101998000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:101991600-101992400	Flanking Active TSS	A549	lung
37	chr11:101991600-101992600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:101991600-101992800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:101991600-101993000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:101991600-101993000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:101991600-101993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:101991600-101993800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:101991600-101995000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:101991600-101995400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:101991600-101996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:101991600-102002200	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:101991600-102006000	Weak transcription	NHLF	lung
48	chr11:101991600-102008800	Weak transcription	HSMMtube	muscle
49	chr11:101991600-102012400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:101991600-102015200	Weak transcription	Fetal Kidney	kidney

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