Variant report

Variant	rs12308473
Chromosome Location	chr12:56558747-56558748
allele	G/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56437997..56440077-chr12:56556609..56558921,2	K562	blood:
2	chr12:56472171..56474440-chr12:56558203..56559905,2	MCF-7	breast:
3	chr12:56519569..56524417-chr12:56555136..56559386,7	MCF-7	breast:
4	chr12:56507747..56515530-chr12:56549896..56559767,36	MCF-7	breast:
5	chr12:56557531..56560947-chr12:56576464..56579255,4	MCF-7	breast:
6	chr12:56524733..56527409-chr12:56558482..56560316,2	MCF-7	breast:
7	chr12:56558548..56561384-chr17:56707881..56709477,2	MCF-7	breast:
8	chr12:56555575..56559799-chr12:56572215..56575124,4	MCF-7	breast:
9	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:
10	chr12:56558006..56559570-chr12:56582156..56584035,2	MCF-7	breast:
11	chr12:56441074..56443653-chr12:56557896..56559421,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135482	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000258317	Chromatin interaction
ENSG00000229117	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11171760	1.00[EUR][1000 genomes]
rs11171772	1.00[AMR][1000 genomes]
rs11837267	1.00[EUR][1000 genomes]
rs12298822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12306670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316272	0.89[AFR][1000 genomes]
rs12320265	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1405859	1.00[AMR][1000 genomes]
rs17852368	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2450101	1.00[EUR][1000 genomes]
rs2629453	1.00[EUR][1000 genomes]
rs28546848	1.00[EUR][1000 genomes]
rs55887836	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56163805	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59499104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60011575	0.85[AFR][1000 genomes]
rs7136420	1.00[AMR][1000 genomes]
rs73340385	1.00[EUR][1000 genomes]
rs73340390	1.00[EUR][1000 genomes]
rs7397951	1.00[EUR][1000 genomes]
rs74092003	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772925	1.00[EUR][1000 genomes]
rs772926	1.00[EUR][1000 genomes]
rs773654	1.00[EUR][1000 genomes]
rs773663	1.00[EUR][1000 genomes]
rs7967464	1.00[EUR][1000 genomes]
rs7975486	1.00[EUR][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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56554000-56582000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56554200-56581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:56554600-56568600	Strong transcription	Ovary	ovary
4	chr12:56555000-56569600	Strong transcription	Brain Substantia Nigra	brain
5	chr12:56555000-56575600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:56555000-56579800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:56555000-56580800	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr12:56555000-56580800	Strong transcription	Brain Anterior Caudate	brain
9	chr12:56555000-56581000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:56555200-56559600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:56555200-56559600	Strong transcription	Small Intestine	intestine
12	chr12:56555200-56560600	Strong transcription	Lung	lung
13	chr12:56555200-56562000	Strong transcription	Primary B cells from cord blood	blood
14	chr12:56555200-56563200	Weak transcription	Right Atrium	heart
15	chr12:56555200-56565200	Weak transcription	Fetal Brain Male	brain
16	chr12:56555200-56573600	Strong transcription	Fetal Lung	lung
17	chr12:56555200-56578800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:56555200-56580600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:56555200-56580800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:56555400-56559000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:56555400-56559800	Strong transcription	Aorta	Aorta
22	chr12:56555400-56559800	Strong transcription	Hela-S3	cervix
23	chr12:56555400-56560200	Strong transcription	Primary T cells from cord blood	blood
24	chr12:56555400-56568600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:56555400-56568600	Strong transcription	Esophagus	oesophagus
26	chr12:56555400-56568600	Strong transcription	Gastric	stomach
27	chr12:56555400-56579000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:56555400-56580000	Strong transcription	Placenta	Placenta
29	chr12:56555400-56580600	Strong transcription	Thymus	Thymus
30	chr12:56555400-56580800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:56555400-56580800	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr12:56555400-56580800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:56555600-56559800	Strong transcription	K562	blood
34	chr12:56555600-56561200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:56555600-56566600	Strong transcription	Spleen	Spleen
36	chr12:56555600-56569000	Strong transcription	Left Ventricle	heart
37	chr12:56555600-56573600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:56555600-56575400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:56555600-56576000	Strong transcription	Brain Cingulate Gyrus	brain
40	chr12:56555600-56580600	Strong transcription	Fetal Brain Female	brain
41	chr12:56555600-56580800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:56555600-56580800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:56555600-56580800	Strong transcription	Liver	Liver
44	chr12:56555600-56580800	Strong transcription	Osteobl	bone
45	chr12:56555800-56559000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:56555800-56559200	Strong transcription	Brain Hippocampus Middle	brain
47	chr12:56555800-56560400	Strong transcription	Right Ventricle	heart
48	chr12:56555800-56568800	Strong transcription	Brain Angular Gyrus	brain
49	chr12:56555800-56569600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:56555800-56573400	Strong transcription	Placenta Amnion	Placenta Amnion

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