Variant report

Variant	rs608233
Chromosome Location	chr12:50281647-50281648
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50277027..50279179-chr12:50280863..50283617,2	K562	blood:
2	chr12:50279366..50281726-chr12:50476723..50478563,2	MCF-7	breast:
3	chr12:50275514..50280639-chr12:50281373..50284133,6	MCF-7	breast:
4	chr12:50280749..50283185-chr12:50302000..50304856,3	MCF-7	breast:
5	chr12:50235514..50237899-chr12:50281087..50283364,3	MCF-7	breast:
6	chr12:50270045..50272990-chr12:50279975..50282889,2	MCF-7	breast:
7	chr12:50278683..50281665-chr12:50304912..50306489,2	MCF-7	breast:
8	chr12:50280227..50282176-chr12:50287942..50290577,2	K562	blood:
9	chr12:50272122..50274588-chr12:50280399..50282303,2	MCF-7	breast:
10	chr12:50280929..50282549-chr12:50289892..50292742,2	MCF-7	breast:
11	chr12:50277027..50279310-chr12:50281448..50284241,3	K562	blood:
12	chr12:50263624..50265714-chr12:50280541..50282081,2	MCF-7	breast:
13	chr12:50280144..50282226-chr12:50283386..50285640,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257771	Chromatin interaction
ENSG00000186666	Chromatin interaction
ENSG00000258135	Chromatin interaction
ENSG00000135472	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs417644	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs422022	0.90[EUR][1000 genomes]
rs611282	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs612674	1.00[CHB][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632151	0.92[CEU][hapmap]
rs637871	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836964	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs836965	0.84[EUR][1000 genomes]
rs836966	0.83[EUR][1000 genomes]
rs863226	0.83[EUR][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:38 , 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	chr12:50275200-50282000	Weak transcription	Gastric	stomach
4	chr12:50277800-50288000	Strong transcription	Brain Hippocampus Middle	brain
5	chr12:50278800-50286200	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr12:50278800-50286200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:50279000-50285000	Strong transcription	Brain Germinal Matrix	brain
8	chr12:50279000-50286000	Strong transcription	Brain Anterior Caudate	brain
9	chr12:50279200-50288000	Strong transcription	Brain Cingulate Gyrus	brain
10	chr12:50279400-50281800	Strong transcription	Brain Substantia Nigra	brain
11	chr12:50279400-50281800	Weak transcription	Hela-S3	cervix
12	chr12:50279400-50286600	Strong transcription	Brain Angular Gyrus	brain
13	chr12:50279600-50281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:50279600-50281800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:50279600-50285400	Strong transcription	Fetal Brain Female	brain
16	chr12:50280000-50282800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:50280200-50282000	Weak transcription	Pancreas	Pancrea
18	chr12:50280600-50283600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:50280800-50283000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:50280800-50283400	Enhancers	Esophagus	oesophagus
21	chr12:50280800-50284000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:50281000-50282000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr12:50281000-50282000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:50281000-50282800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:50281200-50282000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr12:50281200-50282200	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:50281200-50285200	Strong transcription	Fetal Stomach	stomach
28	chr12:50281200-50288000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:50281400-50281800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:50281400-50282400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:50281400-50282400	Enhancers	A549	lung
32	chr12:50281400-50283600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:50281400-50286200	Enhancers	Stomach Mucosa	stomach
34	chr12:50281600-50281800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:50281600-50281800	Enhancers	Colonic Mucosa	Colon
36	chr12:50281600-50282200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:50281600-50282200	Enhancers	Fetal Intestine Small	intestine
38	chr12:50281600-50282200	Flanking Bivalent TSS/Enh	HepG2	liver

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