Variant report

Variant	rs60688397
Chromosome Location	chr12:45763839-45763840
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	chr12:45742005..45743566-chr12:45762222..45763999,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12321278	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578601	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578638	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095779	0.82[AMR][1000 genomes]
rs17095781	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17095830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095855	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095860	0.81[AFR][1000 genomes]
rs17095861	1.00[AFR][1000 genomes]
rs17095862	0.91[AFR][1000 genomes]
rs17095890	0.91[AFR][1000 genomes]
rs1913694	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34756223	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41338444	0.93[AFR][1000 genomes]
rs4512918	0.82[AMR][1000 genomes]
rs4583038	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56151528	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57056104	1.00[AFR][1000 genomes]
rs57121130	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57160874	1.00[AFR][1000 genomes]
rs57985291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58028140	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs58152224	0.82[AMR][1000 genomes]
rs58213849	0.82[AMR][1000 genomes]
rs58282976	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58674935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59166276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59348316	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59604789	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60452259	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60794282	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61351713	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61484865	0.93[AFR][1000 genomes]
rs7132433	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138332	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138476	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296058	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302635	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312150	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788104	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745000-45779800	Weak transcription	Gastric	stomach
4	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
5	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:45750000-45772200	Weak transcription	K562	blood
8	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
10	chr12:45758000-45772600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:45758200-45764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:45758200-45771000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:45759200-45764000	Weak transcription	Lung	lung
15	chr12:45759200-45773800	Weak transcription	Fetal Lung	lung
16	chr12:45759200-45774000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:45759600-45764000	Weak transcription	Aorta	Aorta
20	chr12:45759600-45772200	Weak transcription	Fetal Heart	heart
21	chr12:45759800-45764000	Weak transcription	Ovary	ovary
22	chr12:45759800-45776200	Weak transcription	Psoas Muscle	Psoas
23	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
24	chr12:45760400-45771600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:45761200-45764800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:45761600-45764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:45761800-45764600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:45761800-45764800	Strong transcription	Primary B cells from cord blood	blood
31	chr12:45761800-45764800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:45762000-45764400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:45762000-45764400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:45762000-45764400	Strong transcription	Fetal Kidney	kidney
35	chr12:45762000-45764600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:45762000-45764600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr12:45762000-45764600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:45762000-45764600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:45762000-45764600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:45762000-45764800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:45762000-45764800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:45762000-45764800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:45762000-45764800	Strong transcription	Adipose Nuclei	Adipose
44	chr12:45762000-45764800	Strong transcription	Left Ventricle	heart
45	chr12:45762200-45764000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:45762200-45764200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:45762200-45764600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:45762200-45764600	Strong transcription	Primary T cells from cord blood	blood
49	chr12:45762200-45764600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:45762200-45764800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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