Variant report

Variant	rs7133522
Chromosome Location	chr12:46601873-46601874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46593741..46596593-chr12:46600786..46603136,2	MCF-7	breast:
2	chr12:46598504..46606384-chr12:46660159..46664661,13	MCF-7	breast:
3	chr12:46517497..46520022-chr12:46601556..46603233,2	MCF-7	breast:
4	chr12:46601000..46609556-chr12:46658880..46665180,16	MCF-7	breast:
5	chr12:46600082..46602843-chr20:56269478..56271257,2	MCF-7	breast:
6	chr12:46598258..46600271-chr12:46600295..46602398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10880935	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183394	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11608815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615731	1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap]
rs12299972	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1444590	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17096794	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs2289769	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61923106	0.88[ASN][1000 genomes]
rs6582621	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7959450	0.85[CEU][hapmap]
rs7980700	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[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	esv2754441	chr12:46590364-46605239	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46581600-46603200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:46582200-46603200	Weak transcription	Small Intestine	intestine
3	chr12:46587400-46602000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:46587400-46602000	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr12:46587400-46603000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:46588000-46603000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:46588200-46602200	Strong transcription	HUVEC	blood vessel
8	chr12:46588400-46602200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:46588400-46602400	Strong transcription	HMEC	breast
10	chr12:46588600-46602000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:46588600-46602400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:46588600-46602800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:46588800-46602000	Strong transcription	HepG2	liver
14	chr12:46588800-46602400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr12:46589400-46602400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr12:46589600-46603000	Strong transcription	NHEK	skin
17	chr12:46589800-46608400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:46590600-46602000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:46590600-46603200	Weak transcription	Pancreas	Pancrea
20	chr12:46590600-46603200	Weak transcription	Right Atrium	heart
21	chr12:46590600-46603600	Weak transcription	Brain Angular Gyrus	brain
22	chr12:46590600-46603800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:46590800-46603000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:46590800-46603200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:46590800-46613200	Strong transcription	Hela-S3	cervix
26	chr12:46591000-46603200	Weak transcription	Lung	lung
27	chr12:46591000-46613200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:46591000-46613600	Weak transcription	Fetal Brain Male	brain
29	chr12:46591000-46613600	Weak transcription	Gastric	stomach
30	chr12:46591800-46603600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:46592000-46602200	Weak transcription	Brain Substantia Nigra	brain
32	chr12:46592400-46603000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:46592400-46603400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:46592400-46609800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:46592400-46613400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:46592600-46602200	Weak transcription	Brain Anterior Caudate	brain
37	chr12:46592600-46603600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:46592600-46606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:46592800-46603200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:46592800-46603400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:46592800-46603400	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:46593000-46603800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr12:46593400-46603200	Weak transcription	Right Ventricle	heart
45	chr12:46593600-46602400	Strong transcription	Fetal Thymus	thymus
46	chr12:46593600-46603200	Weak transcription	Fetal Intestine Small	intestine
47	chr12:46593800-46603400	Weak transcription	Dnd41	blood
48	chr12:46595800-46603800	Weak transcription	Spleen	Spleen
49	chr12:46596000-46618200	Weak transcription	Aorta	Aorta
50	chr12:46596600-46602600	Strong transcription	K562	blood

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