Variant report

Variant	rs7301566
Chromosome Location	chr12:50581647-50581648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50580197..50581923-chr12:50586405..50588102,2	MCF-7	breast:
2	chr12:50581029..50583186-chr12:50589961..50592504,2	K562	blood:
3	chr12:50580926..50582458-chr12:50694588..50696573,2	K562	blood:
4	chr12:50494779..50496770-chr12:50580930..50583247,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CERS5-1	chr12:50579363-50584044	ENSG00000257298.1

Variant related genes	Relation type
ENSG00000203428	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10219559	0.85[EUR][1000 genomes]
rs1044370	0.90[ASN][1000 genomes]
rs10783342	0.86[EUR][1000 genomes]
rs11169294	0.81[ASN][1000 genomes]
rs11831413	0.83[ASN][1000 genomes]
rs12426261	0.89[ASN][1000 genomes]
rs12815871	0.81[ASN][1000 genomes]
rs12830386	0.83[ASN][1000 genomes]
rs1862043	0.98[ASN][1000 genomes]
rs2358538	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34573394	0.83[ASN][1000 genomes]
rs35549836	0.83[ASN][1000 genomes]
rs35998534	0.83[ASN][1000 genomes]
rs4459386	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4883481	0.98[ASN][1000 genomes]
rs4883482	0.92[ASN][1000 genomes]
rs56709084	0.83[ASN][1000 genomes]
rs6580729	0.83[ASN][1000 genomes]
rs6580732	0.82[EUR][1000 genomes]
rs66768395	0.88[ASN][1000 genomes]
rs7294548	0.83[ASN][1000 genomes]
rs7301649	0.83[ASN][1000 genomes]
rs7308356	0.83[ASN][1000 genomes]
rs7957659	0.85[EUR][1000 genomes]
rs8181679	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7301566	CERS5	cis	Nerve Tibial	GTEx
rs7301566	LASS5	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50561800-50582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:50561800-50582600	Weak transcription	Stomach Mucosa	stomach
3	chr12:50562000-50584800	Weak transcription	K562	blood
4	chr12:50562200-50597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:50564400-50586200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:50564400-50600800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:50568600-50582000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:50570000-50601400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:50570400-50592800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:50570600-50582800	Weak transcription	Small Intestine	intestine
11	chr12:50570800-50589800	Strong transcription	Fetal Stomach	stomach
12	chr12:50571800-50586000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:50571800-50586200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:50571800-50595800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:50571800-50597000	Weak transcription	Thymus	Thymus
16	chr12:50571800-50597600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:50572000-50586000	Weak transcription	Left Ventricle	heart
19	chr12:50572200-50582200	Weak transcription	Lung	lung
20	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
21	chr12:50572600-50586200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:50575600-50586000	Weak transcription	Dnd41	blood
23	chr12:50575800-50582400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:50575800-50582800	Weak transcription	Hela-S3	cervix
25	chr12:50575800-50585000	Weak transcription	Liver	Liver
26	chr12:50575800-50586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:50576000-50582000	Weak transcription	Fetal Lung	lung
28	chr12:50576000-50582200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:50576000-50582400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:50576000-50582600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:50576000-50582600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:50576000-50584600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:50576000-50584600	Weak transcription	Fetal Thymus	thymus
34	chr12:50576000-50586200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:50576200-50582200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:50576200-50582200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:50576400-50582400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:50576600-50595000	Weak transcription	A549	lung
39	chr12:50577200-50582400	Weak transcription	Right Atrium	heart
40	chr12:50577800-50583400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:50578600-50586200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:50578800-50583200	Genic enhancers	Fetal Muscle Leg	muscle
43	chr12:50578800-50583400	Genic enhancers	Adipose Nuclei	Adipose
44	chr12:50578800-50583400	Genic enhancers	HMEC	breast
45	chr12:50578800-50585200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:50579000-50582200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:50579000-50582800	Enhancers	Fetal Brain Male	brain
48	chr12:50579000-50582800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:50579000-50583200	Strong transcription	Primary T cells from cord blood	blood
50	chr12:50579000-50583200	Enhancers	Placenta	Placenta

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