Variant report

Variant	rs772463
Chromosome Location	chr12:56308737-56308738
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56308199..56310170-chr12:56365833..56368306,2	MCF-7	breast:
2	chr12:56306449..56310619-chr12:56320899..56323064,5	MCF-7	breast:
3	chr12:56306968..56309044-chr12:56359169..56361600,2	MCF-7	breast:
4	chr12:56308254..56310551-chr12:56312979..56314818,2	MCF-7	breast:
5	chr12:56307549..56310271-chr12:56316708..56318919,2	MCF-7	breast:
6	chr12:56308633..56310681-chr12:56366386..56369249,2	MCF-7	breast:
7	chr12:56307383..56310841-chr12:56318368..56320626,3	K562	blood:
8	chr12:56307959..56309926-chr12:56319073..56321218,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111540	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000185664	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1066130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1068188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1068189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1088050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1091527	1.00[EUR][1000 genomes]
rs11829187	1.00[ASN][1000 genomes]
rs11831133	1.00[ASN][1000 genomes]
rs11833164	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834873	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835018	1.00[EUR][1000 genomes]
rs11835310	1.00[EUR][1000 genomes]
rs11838363	1.00[ASN][1000 genomes]
rs1626158	1.00[EUR][1000 genomes]
rs1681071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689517	1.00[EUR][1000 genomes]
rs1689518	1.00[EUR][1000 genomes]
rs1701701	1.00[EUR][1000 genomes]
rs1701702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702872	1.00[EUR][1000 genomes]
rs2035948	1.00[EUR][1000 genomes]
rs2046293	1.00[ASN][1000 genomes]
rs2625137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2625146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640566	1.00[EUR][1000 genomes]
rs2640568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658478	1.00[EUR][1000 genomes]
rs2661728	1.00[EUR][1000 genomes]
rs2661729	1.00[EUR][1000 genomes]
rs2934152	1.00[EUR][1000 genomes]
rs34323718	1.00[EUR][1000 genomes]
rs4417324	1.00[EUR][1000 genomes]
rs56696262	1.00[EUR][1000 genomes]
rs57237559	1.00[EUR][1000 genomes]
rs57785224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57990974	1.00[EUR][1000 genomes]
rs59794023	1.00[EUR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs705697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7298109	1.00[EUR][1000 genomes]
rs7300292	1.00[EUR][1000 genomes]
rs7304690	1.00[EUR][1000 genomes]
rs7309327	1.00[EUR][1000 genomes]
rs7310292	1.00[EUR][1000 genomes]
rs73336393	1.00[ASN][1000 genomes]
rs73336399	1.00[ASN][1000 genomes]
rs73336402	1.00[ASN][1000 genomes]
rs73338377	1.00[EUR][1000 genomes]
rs73338385	1.00[EUR][1000 genomes]
rs772459	1.00[EUR][1000 genomes]
rs772464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772470	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772474	1.00[EUR][1000 genomes]
rs772697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772698	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954155	1.00[EUR][1000 genomes]
rs7957187	1.00[EUR][1000 genomes]
rs7958958	1.00[EUR][1000 genomes]
rs7975037	1.00[EUR][1000 genomes]
rs7980782	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
3	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:56292800-56316000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:56293600-56319200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:56293800-56319600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:56294200-56319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:56294400-56313800	Weak transcription	Ovary	ovary
9	chr12:56294400-56319600	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:56296000-56319600	Weak transcription	Right Ventricle	heart
11	chr12:56296200-56319400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:56296800-56319600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:56297000-56315800	Weak transcription	Aorta	Aorta
14	chr12:56297200-56315600	Weak transcription	Fetal Brain Female	brain
15	chr12:56297200-56315600	Weak transcription	Lung	lung
16	chr12:56297200-56315800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:56297200-56319200	Weak transcription	Colonic Mucosa	Colon
18	chr12:56297200-56319600	Weak transcription	Brain Germinal Matrix	brain
19	chr12:56297200-56319600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:56297200-56320000	Weak transcription	Gastric	stomach
21	chr12:56297200-56320000	Weak transcription	Spleen	Spleen
22	chr12:56297400-56313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:56297400-56315800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:56297400-56316000	Weak transcription	Thymus	Thymus
25	chr12:56297600-56319600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:56298000-56310400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:56299400-56310000	Weak transcription	Esophagus	oesophagus
28	chr12:56300400-56319400	Weak transcription	HSMMtube	muscle
29	chr12:56303400-56319600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:56303600-56319600	Weak transcription	Brain Angular Gyrus	brain
31	chr12:56303800-56308800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:56303800-56310200	Weak transcription	K562	blood
33	chr12:56303800-56315800	Weak transcription	Brain Substantia Nigra	brain
34	chr12:56303800-56319400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:56303800-56319400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:56303800-56319600	Weak transcription	Brain Anterior Caudate	brain
37	chr12:56304000-56319600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:56305400-56309400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:56305600-56311600	Strong transcription	Fetal Thymus	thymus
40	chr12:56306000-56310400	Weak transcription	Fetal Brain Male	brain
41	chr12:56306200-56308800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:56306200-56309200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:56306200-56309800	Strong transcription	Dnd41	blood
44	chr12:56306200-56310400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:56306200-56310400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:56306400-56308800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:56306400-56310600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:56306600-56309200	Weak transcription	Fetal Intestine Small	intestine
49	chr12:56306600-56311000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:56306800-56308800	Strong transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links