Variant report

Variant	rs59298452
Chromosome Location	chr12:57453024-57453025
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57451485..57454907-chr12:57478514..57481800,3	MCF-7	breast:
2	chr12:57448347..57452034-chr12:57452358..57454961,5	K562	blood:
3	chr12:57397640..57402458-chr12:57449819..57457812,10	MCF-7	breast:
4	chr12:57448687..57450706-chr12:57452452..57454961,2	K562	blood:
5	chr12:57452344..57454175-chr12:57455818..57458354,2	K562	blood:
6	chr12:57451815..57454714-chr12:57635118..57636640,2	K562	blood:
7	chr12:57453005..57455126-chr12:57499058..57501789,3	K562	blood:
8	chr12:57431754..57435388-chr12:57451480..57453463,3	K562	blood:
9	chr12:57452298..57454790-chr12:57456162..57458381,2	MCF-7	breast:
10	chr12:57452751..57457061-chr12:57481852..57484264,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166860	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000166866	Chromatin interaction
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11831512	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899110	chr12:57422934-57472502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv899111	chr12:57438658-57472502	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57420400-57471800	Weak transcription	Gastric	stomach
2	chr12:57437000-57471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57440400-57463200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:57442200-57471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:57442400-57456200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:57442400-57456800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:57442800-57453200	Weak transcription	Hela-S3	cervix
8	chr12:57444000-57463400	Weak transcription	Spleen	Spleen
9	chr12:57444600-57463400	Weak transcription	Colonic Mucosa	Colon
10	chr12:57445000-57464400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:57447800-57457400	Strong transcription	A549	lung
12	chr12:57448000-57462400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:57448000-57463400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:57448000-57472800	Weak transcription	Fetal Heart	heart
15	chr12:57448400-57462800	Strong transcription	Fetal Thymus	thymus
16	chr12:57448600-57456800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:57448600-57471800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:57448800-57453200	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:57449000-57454600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:57449000-57455000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:57449000-57467200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:57449000-57468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:57449000-57470600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:57449200-57454800	Strong transcription	HUVEC	blood vessel
25	chr12:57449200-57457200	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:57449200-57463200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:57449200-57466800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:57449600-57455000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:57449600-57459400	Strong transcription	Dnd41	blood
30	chr12:57449800-57454600	Strong transcription	Primary T cells from cord blood	blood
31	chr12:57449800-57454600	Strong transcription	NHLF	lung
32	chr12:57449800-57456600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:57449800-57458000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:57449800-57466800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:57450000-57454600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:57450000-57466800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:57450200-57455000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr12:57450200-57458000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:57450200-57466800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr12:57450400-57453400	Weak transcription	Psoas Muscle	Psoas
41	chr12:57450400-57454000	Genic enhancers	Fetal Intestine Large	intestine
42	chr12:57450400-57454600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:57450400-57454600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:57450400-57454600	Strong transcription	Thymus	Thymus
45	chr12:57450400-57454800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:57450400-57454800	Strong transcription	HMEC	breast
47	chr12:57450400-57457000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:57450600-57454200	Strong transcription	Adipose Nuclei	Adipose
49	chr12:57450600-57454200	Strong transcription	Liver	Liver
50	chr12:57450600-57454600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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