Variant report

Variant	rs812230
Chromosome Location	chr12:56174489-56174490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56142876..56145007-chr12:56173971..56176106,2	MCF-7	breast:
2	chr12:56147068..56148696-chr12:56171583..56174567,2	K562	blood:
3	chr12:56121105..56123388-chr12:56171466..56174516,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258056	Chromatin interaction
ENSG00000135404	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1466512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1725358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1871999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449476	1.00[AMR][1000 genomes]
rs2462938	1.00[AMR][1000 genomes]
rs2694008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694015	1.00[AMR][1000 genomes]
rs2887997	1.00[AMR][1000 genomes]
rs4759012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4759202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55884432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310325	1.00[AMR][1000 genomes]
rs772250	1.00[AMR][1000 genomes]
rs772252	1.00[AMR][1000 genomes]
rs772253	1.00[AMR][1000 genomes]
rs772256	1.00[AMR][1000 genomes]
rs772257	1.00[AMR][1000 genomes]
rs772259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772261	1.00[AMR][1000 genomes]
rs7956337	1.00[AMR][1000 genomes]
rs7963379	1.00[AFR][1000 genomes];1.00[AMR][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	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56139400-56174600	Weak transcription	Stomach Mucosa	stomach
2	chr12:56142000-56191800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56144600-56208800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:56144800-56198600	Strong transcription	Primary B cells from peripheral blood	blood
5	chr12:56145200-56199400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:56149400-56209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:56152600-56179600	Weak transcription	Pancreas	Pancrea
8	chr12:56152800-56209000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:56153000-56174600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:56153000-56176400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:56153000-56182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:56153400-56175800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:56154400-56178400	Weak transcription	Fetal Brain Male	brain
14	chr12:56154400-56180600	Weak transcription	Right Ventricle	heart
15	chr12:56160000-56175600	Weak transcription	Spleen	Spleen
16	chr12:56160000-56179600	Weak transcription	Aorta	Aorta
17	chr12:56160000-56197600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:56160200-56180000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:56160200-56184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:56160400-56174800	Weak transcription	NHLF	lung
21	chr12:56160400-56209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:56160800-56174800	Weak transcription	Lung	lung
23	chr12:56161000-56174800	Weak transcription	Brain Germinal Matrix	brain
24	chr12:56162200-56183200	Strong transcription	Primary T cells from cord blood	blood
25	chr12:56163000-56198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:56163200-56175000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:56163200-56199800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:56163200-56209400	Strong transcription	Fetal Thymus	thymus
29	chr12:56163400-56184600	Strong transcription	Placenta	Placenta
30	chr12:56163400-56198000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:56163800-56177200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:56164000-56197600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:56164200-56178200	Strong transcription	Fetal Stomach	stomach
34	chr12:56164800-56185000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:56166000-56175200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:56166000-56178000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:56166200-56174800	Weak transcription	Colonic Mucosa	Colon
38	chr12:56166400-56175000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:56166400-56175400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:56166400-56175600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:56166400-56176400	Weak transcription	Brain Angular Gyrus	brain
42	chr12:56166400-56176800	Weak transcription	Brain Substantia Nigra	brain
43	chr12:56166400-56177200	Weak transcription	NHEK	skin
44	chr12:56166400-56177800	Weak transcription	Psoas Muscle	Psoas
45	chr12:56166400-56182000	Weak transcription	Small Intestine	intestine
46	chr12:56166400-56182600	Weak transcription	Fetal Heart	heart
47	chr12:56166400-56194600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:56167400-56174600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:56167400-56175000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:56169200-56195400	Strong transcription	Primary B cells from cord blood	blood

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