Variant report

Variant	rs58717357
Chromosome Location	chr12:56389565-56389566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56389356-56389579	K562	blood:	n/a	n/a
2	POLR2A	chr12:56389552-56389657	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:56389455-56389649	K562	blood:	n/a	n/a

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56384934..56392097-chr12:56507991..56512680,9	MCF-7	breast:
2	chr12:56365739..56372949-chr12:56384756..56392202,12	MCF-7	breast:
3	chr12:56360624..56364064-chr12:56389013..56391447,3	K562	blood:
4	chr12:56352386..56354145-chr12:56388727..56390265,2	MCF-7	breast:
5	chr12:56365099..56368915-chr12:56389537..56395397,5	K562	blood:
6	chr12:56318993..56322413-chr12:56389425..56391488,3	K562	blood:
7	chr12:56388983..56390811-chr12:56431023..56433319,3	K562	blood:
8	chr12:56388663..56390972-chr12:56509029..56512021,2	K562	blood:
9	chr12:56389364..56393818-chr12:56396293..56409099,19	MCF-7	breast:
10	chr12:56387597..56389649-chr12:56389907..56392542,2	MCF-7	breast:
11	chr12:56221380..56224964-chr12:56389518..56391626,4	MCF-7	breast:
12	chr12:56386715..56395273-chr12:56398367..56404356,15	MCF-7	breast:
13	chr12:56325939..56329017-chr12:56389529..56391723,3	K562	blood:
14	chr12:56389319..56393039-chr12:56433877..56439169,10	K562	blood:
15	chr12:56380547..56382157-chr12:56387851..56389838,2	MCF-7	breast:
16	chr12:56384784..56387430-chr12:56389499..56392081,3	MCF-7	breast:
17	chr12:56386022..56392601-chr12:56434180..56439537,11	MCF-7	breast:
18	chr12:56388556..56391684-chr12:56495441..56499573,3	K562	blood:
19	chr12:54346604..54348819-chr12:56388930..56391042,2	MCF-7	breast:
20	chr12:56121261..56123274-chr12:56389263..56391155,2	K562	blood:
21	chr12:56387772..56393921-chr12:56435042..56439277,13	MCF-7	breast:
22	chr12:56383457..56387356-chr12:56388448..56393059,5	MCF-7	breast:
23	chr12:56366407..56369311-chr12:56387983..56390869,4	K562	blood:
24	chr12:56209991..56213836-chr12:56388557..56392258,6	MCF-7	breast:
25	chr12:56135587..56137703-chr12:56389429..56392012,4	K562	blood:
26	chr12:56387978..56391684-chr12:56496583..56499573,3	K562	blood:
27	chr12:56319711..56323865-chr12:56387409..56394085,7	MCF-7	breast:
28	chr12:56388289..56393996-chr12:56394860..56404076,14	K562	blood:
29	chr12:56389561..56390517-chr12:56434679..56435890,12	MCF-7	breast:
30	chr12:56388988..56394527-chr12:56433794..56442585,20	K562	blood:
31	chr12:56389168..56393063-chr12:56410604..56414258,3	K562	blood:
32	chr12:56387786..56391013-chr12:56472110..56474187,3	MCF-7	breast:
33	chr12:56382621..56386738-chr12:56387166..56390175,5	K562	blood:
34	chr12:56367522..56369913-chr12:56387381..56390070,3	MCF-7	breast:

No data

Variant related genes	Relation type
SUOX	TF binding region
ENSG00000170473	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000255990	Chromatin interaction
ENSG00000123407	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000182796	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11837183	1.00[EUR][1000 genomes]
rs17118200	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035949	1.00[EUR][1000 genomes]
rs3213125	1.00[EUR][1000 genomes]
rs56115949	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60740107	1.00[EUR][1000 genomes]
rs7305481	1.00[EUR][1000 genomes]
rs73324304	1.00[EUR][1000 genomes]
rs901073	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56369800-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:56370000-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:56370000-56389600	Strong transcription	Fetal Thymus	thymus
4	chr12:56370200-56389600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr12:56370600-56389600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:56371400-56389600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:56372400-56390000	Strong transcription	Placenta	Placenta
8	chr12:56372800-56389600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:56372800-56389600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:56373400-56389600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:56374000-56389600	Strong transcription	Fetal Stomach	stomach
12	chr12:56375800-56390600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:56376000-56389600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:56376600-56389600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:56377600-56389600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:56377800-56389600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:56378000-56389600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:56378200-56389600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:56378400-56389600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:56379000-56389600	Strong transcription	Brain Hippocampus Middle	brain
21	chr12:56379000-56389600	Strong transcription	HSMMtube	muscle
22	chr12:56379000-56389600	Strong transcription	NH-A	brain
23	chr12:56380600-56389600	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:56383400-56389600	Strong transcription	HSMM	muscle
25	chr12:56385000-56389600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:56385200-56390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:56385200-56390600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:56385400-56390200	Weak transcription	Fetal Heart	heart
29	chr12:56385600-56390200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:56386200-56389600	Genic enhancers	Fetal Intestine Large	intestine
31	chr12:56386200-56390200	Weak transcription	Stomach Mucosa	stomach
32	chr12:56386400-56389600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:56387400-56390400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:56387600-56390200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:56387600-56390200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:56387800-56390200	Weak transcription	A549	lung
37	chr12:56387800-56390400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:56388000-56389800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:56388000-56390000	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:56388000-56390200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:56388000-56390200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:56388000-56390200	Weak transcription	Aorta	Aorta
43	chr12:56388000-56390200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:56388000-56390200	Weak transcription	Esophagus	oesophagus
45	chr12:56388000-56390200	Weak transcription	Ovary	ovary
46	chr12:56388000-56390200	Weak transcription	Right Ventricle	heart
47	chr12:56388000-56390200	Weak transcription	NHDF-Ad	bronchial
48	chr12:56388000-56390400	Weak transcription	HMEC	breast
49	chr12:56388000-56390600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:56388000-56390600	Weak transcription	H9 Cell Line	embryonic stem cell

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