Variant report

Variant	rs7132055
Chromosome Location	chr12:122346034-122346035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122343793..122346484-chr12:122354637..122356922,2	MCF-7	breast:
2	chr12:122232180..122234901-chr12:122344222..122346588,2	K562	blood:
3	chr12:122344264..122346519-chr12:122351285..122352840,2	K562	blood:
4	chr12:122334878..122337847-chr12:122344073..122346557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10840630	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840631	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840632	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840633	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840637	0.92[CEU][hapmap]
rs11043223	1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs11043225	1.00[ASN][1000 genomes]
rs11043233	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043242	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs11043243	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11043244	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043246	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043251	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043271	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043278	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11043280	1.00[ASN][1000 genomes]
rs11043288	1.00[CHD][hapmap];0.93[GIH][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs1154514	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612028	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615980	0.93[EUR][1000 genomes]
rs1169070	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169071	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833399	1.00[CHD][hapmap]
rs12369331	1.00[ASN][1000 genomes]
rs12809676	1.00[ASN][1000 genomes]
rs12817066	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12822775	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12823194	1.00[ASN][1000 genomes]
rs12824593	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825161	1.00[ASN][1000 genomes]
rs12827036	1.00[CHD][hapmap]
rs12827452	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1720033	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720037	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167067	1.00[ASN][1000 genomes]
rs34159444	1.00[ASN][1000 genomes]
rs34906460	1.00[ASN][1000 genomes]
rs3847694	0.96[CEU][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs3887885	0.93[EUR][1000 genomes]
rs61954311	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66751701	1.00[ASN][1000 genomes]
rs7137218	0.96[CEU][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs7309024	0.93[EUR][1000 genomes]
rs7313252	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs73217776	1.00[ASN][1000 genomes]
rs7954584	0.80[MEX][hapmap]
rs7970565	0.89[EUR][1000 genomes]
rs9739381	1.00[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7132055	WDR66	cis	cerebellum	SCAN
rs7132055	CCDC60	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
2	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
3	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:122329800-122355000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:122330600-122353800	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:122331000-122355000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:122331600-122355600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:122331800-122351800	Strong transcription	Dnd41	blood
11	chr12:122332000-122350400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr12:122332000-122354600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:122332000-122356600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:122332200-122349600	Strong transcription	Fetal Brain Female	brain
15	chr12:122332200-122351000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:122332400-122348000	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:122332400-122349400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr12:122332400-122349400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:122332400-122350600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:122332400-122350800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:122332400-122355600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:122332400-122355600	Strong transcription	Fetal Intestine Small	intestine
23	chr12:122332400-122355800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:122332600-122346400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:122332600-122347800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:122332600-122349600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr12:122332600-122350800	Strong transcription	Placenta	Placenta
28	chr12:122332600-122352600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:122332600-122355400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:122332600-122355600	Strong transcription	Fetal Intestine Large	intestine
31	chr12:122332800-122350000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:122332800-122350200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:122332800-122355000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:122332800-122355400	Strong transcription	Liver	Liver
35	chr12:122332800-122355600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:122333000-122347800	Strong transcription	A549	lung
37	chr12:122333000-122350600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:122333000-122353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:122333000-122356000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:122333200-122346400	Strong transcription	Fetal Thymus	thymus
41	chr12:122333200-122350400	Strong transcription	Thymus	Thymus
42	chr12:122335000-122347800	Strong transcription	Right Ventricle	heart
43	chr12:122335800-122348000	Strong transcription	Colon Smooth Muscle	Colon
44	chr12:122335800-122348000	Strong transcription	Lung	lung
45	chr12:122335800-122351000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:122336200-122347800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:122336400-122356000	Strong transcription	Adipose Nuclei	Adipose
48	chr12:122337800-122347000	Weak transcription	Psoas Muscle	Psoas
49	chr12:122337800-122347800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:122338000-122356000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links