Variant report

Variant	rs12054166
Chromosome Location	chr3:150093445-150093446
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150093390..150097610-chr3:150100766..150105118,7	MCF-7	breast:
2	chr3:150081211..150094856-chr3:150124384..150132921,41	MCF-7	breast:
3	chr3:150081035..150094397-chr3:150122156..150134666,40	MCF-7	breast:
4	chr3:150092338..150094835-chr3:150138440..150140402,2	MCF-7	breast:
5	chr3:150093407..150096094-chr3:150124044..150128007,4	K562	blood:
6	chr3:150091318..150093525-chr3:150137664..150139823,2	K562	blood:
7	chr3:150083276..150085160-chr3:150092333..150095234,2	K562	blood:
8	chr3:150064599..150068049-chr3:150092339..150097012,5	MCF-7	breast:
9	chr3:150087084..150094553-chr3:150124263..150130094,16	K562	blood:
10	chr3:150093271..150095858-chr3:150119716..150121921,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11706784	0.92[ASN][1000 genomes]
rs11719654	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][1000 genomes]
rs12629077	0.81[AMR][1000 genomes]
rs13069723	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13092207	0.96[ASN][1000 genomes]
rs13092341	0.88[ASN][1000 genomes]
rs16862648	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2068659	0.92[ASN][1000 genomes]
rs28517277	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33988810	0.96[ASN][1000 genomes]
rs34192407	0.96[ASN][1000 genomes]
rs34384576	0.85[ASN][1000 genomes]
rs34518530	0.92[ASN][1000 genomes]
rs34616287	0.88[ASN][1000 genomes]
rs34991086	0.92[ASN][1000 genomes]
rs35704634	0.88[ASN][1000 genomes]
rs35725711	0.88[ASN][1000 genomes]
rs35982655	0.92[ASN][1000 genomes]
rs56040746	0.88[ASN][1000 genomes]
rs62269065	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6440677	0.84[CEU][hapmap];0.83[MEX][hapmap]
rs6763024	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs879634	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9682043	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.92[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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12054166	AADACL2	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150086200-150102200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:150088800-150093800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:150089400-150094200	Weak transcription	Small Intestine	intestine
4	chr3:150089600-150094200	Weak transcription	Placenta	Placenta
5	chr3:150089600-150097400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:150089800-150094000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:150089800-150094000	Weak transcription	Brain Germinal Matrix	brain
8	chr3:150089800-150094000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:150089800-150094200	Weak transcription	Left Ventricle	heart
10	chr3:150089800-150094600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:150090000-150093800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:150090200-150094200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
14	chr3:150090400-150093800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:150090400-150093800	Weak transcription	Liver	Liver
16	chr3:150090400-150094200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:150090600-150094200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:150090600-150094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:150090800-150093800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:150090800-150093800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:150090800-150094000	Weak transcription	Fetal Heart	heart
22	chr3:150090800-150094200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:150090800-150094200	Weak transcription	Psoas Muscle	Psoas
24	chr3:150090800-150094200	Weak transcription	Right Atrium	heart
25	chr3:150090800-150096000	Weak transcription	Gastric	stomach
26	chr3:150090800-150096000	Weak transcription	Stomach Mucosa	stomach
27	chr3:150090800-150096200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:150090800-150096600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr3:150090800-150097400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:150090800-150107000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:150090800-150108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:150090800-150111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:150090800-150111000	Weak transcription	NHEK	skin
34	chr3:150091200-150094000	Weak transcription	HSMM	muscle
35	chr3:150091800-150101800	Weak transcription	Primary B cells from cord blood	blood
36	chr3:150092000-150093600	Weak transcription	NHLF	lung
37	chr3:150092000-150094200	Weak transcription	HUVEC	blood vessel
38	chr3:150092400-150094800	Enhancers	Fetal Lung	lung
39	chr3:150092600-150094400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:150092800-150094000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:150092800-150094600	Enhancers	Hela-S3	cervix
42	chr3:150092800-150094600	Enhancers	NHDF-Ad	bronchial
43	chr3:150093000-150093800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr3:150093000-150094600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:150093000-150094800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:150093000-150094800	Enhancers	Fetal Intestine Large	intestine
47	chr3:150093000-150094800	Enhancers	Fetal Intestine Small	intestine
48	chr3:150093200-150093600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:150093200-150093600	Weak transcription	K562	blood
50	chr3:150093200-150094600	Enhancers	Osteobl	bone

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