Variant report

Variant	rs59702903
Chromosome Location	chr12:46660177-46660178
allele	A/C/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: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	chr12:46658442..46662665-chr12:46774451..46778723,6	K562	blood:
2	chr12:46590494..46598595-chr12:46658954..46664180,10	MCF-7	breast:
3	chr12:46381653..46384316-chr12:46658041..46660330,2	K562	blood:
4	chr12:46613955..46615802-chr12:46659789..46661302,2	MCF-7	breast:
5	chr12:46656458..46664971-chr12:46763618..46767965,19	MCF-7	breast:
6	chr12:46659532..46664131-chr12:46762494..46766775,7	K562	blood:
7	chr12:46652597..46666608-chr12:46757245..46767985,36	MCF-7	breast:
8	chr12:46381653..46385520-chr12:46657331..46660330,4	K562	blood:
9	chr12:46658898..46664029-chr12:46756711..46760586,4	K562	blood:
10	chr12:46658047..46664131-chr12:46762494..46767686,10	K562	blood:
11	chr12:46657863..46660351-chr12:46778251..46780364,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000139218	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000257261	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10506267	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10506268	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11830769	0.81[ASN][1000 genomes]
rs11831535	0.91[AMR][1000 genomes]
rs2125646	0.81[ASN][1000 genomes]
rs3843676	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58470507	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60628240	0.95[ASN][1000 genomes]
rs61517444	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs74082085	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74084031	0.91[AMR][1000 genomes];0.95[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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
2	chr12:46654600-46661000	Weak transcription	Spleen	Spleen
3	chr12:46656000-46660400	Weak transcription	NHLF	lung
4	chr12:46656000-46660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46656000-46660600	Weak transcription	Lung	lung
6	chr12:46658000-46662600	Active TSS	Right Ventricle	heart
7	chr12:46658400-46660200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr12:46658600-46660800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr12:46658600-46660800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr12:46658800-46660600	Active TSS	Placenta	Placenta
11	chr12:46658800-46660800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:46658800-46664200	Active TSS	Placenta Amnion	Placenta Amnion
13	chr12:46659000-46660200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:46659000-46660200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
15	chr12:46659000-46660200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:46659000-46660200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr12:46659000-46660200	Flanking Active TSS	Fetal Brain Female	brain
18	chr12:46659000-46660400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr12:46659000-46660600	Enhancers	Pancreas	Pancrea
20	chr12:46659000-46663400	Active TSS	Left Ventricle	heart
21	chr12:46659200-46660200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr12:46659200-46660600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:46659200-46661200	Transcr. at gene 5' and 3'	NHEK	skin
24	chr12:46659400-46660200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:46659400-46660200	Flanking Active TSS	HepG2	liver
26	chr12:46659400-46660400	Flanking Active TSS	Hela-S3	cervix
27	chr12:46659400-46660600	Flanking Active TSS	Thymus	Thymus
28	chr12:46659400-46660800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:46659400-46664200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr12:46659400-46664200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr12:46659600-46660200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:46659600-46660200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
33	chr12:46659600-46660200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:46659600-46660200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:46659600-46660200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:46659600-46660200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:46659600-46660200	Enhancers	Fetal Intestine Large	intestine
38	chr12:46659600-46660200	Enhancers	Fetal Intestine Small	intestine
39	chr12:46659600-46660400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:46659600-46660400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr12:46659600-46660600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:46659600-46660600	Enhancers	Brain Substantia Nigra	brain
43	chr12:46659600-46660600	Flanking Active TSS	A549	lung
44	chr12:46659600-46660800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:46659600-46660800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr12:46659600-46661000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr12:46659600-46661200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr12:46659600-46661600	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:46659600-46661800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:46659600-46661800	Active TSS	Brain Cingulate Gyrus	brain

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