Variant report

Variant	rs188460
Chromosome Location	chr12:50279068-50279069
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50275093..50276632-chr12:50278592..50280741,2	K562	blood:
2	chr12:50277027..50279310-chr12:50281448..50284241,3	K562	blood:
3	chr12:50277027..50279179-chr12:50280863..50283617,2	K562	blood:
4	chr12:50278683..50281665-chr12:50304912..50306489,2	MCF-7	breast:
5	chr12:50276293..50279154-chr12:50504715..50507254,2	MCF-7	breast:
6	chr12:50275514..50280639-chr12:50281373..50284133,6	MCF-7	breast:
7	chr12:50278311..50281286-chr12:50298604..50300536,3	MCF-7	breast:
8	chr12:50172716..50175610-chr12:50278346..50281204,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257771	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000258135	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1027711	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	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
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
2	chr12:50275000-50294800	Weak transcription	Fetal Brain Male	brain
3	chr12:50275200-50279800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:50275200-50282000	Weak transcription	Gastric	stomach
5	chr12:50275400-50280200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:50277000-50279600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50277600-50279200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:50277600-50279400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:50277800-50279400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:50277800-50279400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:50277800-50288000	Strong transcription	Brain Hippocampus Middle	brain
12	chr12:50278200-50279400	Enhancers	Hela-S3	cervix
13	chr12:50278200-50279600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:50278200-50279800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:50278400-50280200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:50278600-50279200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:50278600-50279200	Bivalent Enhancer	HepG2	liver
18	chr12:50278800-50279400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:50278800-50279600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:50278800-50279600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:50278800-50279600	Weak transcription	Fetal Brain Female	brain
22	chr12:50278800-50279800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr12:50278800-50279800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:50278800-50279800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:50278800-50280000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:50278800-50280200	ZNF genes & repeats	Fetal Stomach	stomach
27	chr12:50278800-50286200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr12:50278800-50286200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:50279000-50279200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:50279000-50279200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr12:50279000-50279200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:50279000-50279200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr12:50279000-50279400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr12:50279000-50279600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:50279000-50279600	Weak transcription	Fetal Kidney	kidney
36	chr12:50279000-50285000	Strong transcription	Brain Germinal Matrix	brain
37	chr12:50279000-50286000	Strong transcription	Brain Anterior Caudate	brain

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