Variant report

Variant	rs4148864
Chromosome Location	chr12:123580657-123580658
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: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	chr12:123578771..123581154-chr12:123581766..123585014,3	MCF-7	breast:
2	chr12:123557830..123561771-chr12:123578816..123581456,4	MCF-7	breast:
3	chr12:123578867..123580732-chr12:123586590..123589378,3	MCF-7	breast:
4	chr12:123578797..123580896-chr12:123581116..123583111,2	K562	blood:
5	chr12:123573280..123576168-chr12:123580609..123582204,2	K562	blood:
6	chr12:123546572..123549007-chr12:123579476..123581464,2	MCF-7	breast:
7	chr12:123579745..123581388-chr12:123633576..123636389,2	MCF-7	breast:
8	chr12:123578789..123580705-chr12:123603814..123606258,2	K562	blood:
9	chr12:123576316..123578590-chr12:123579246..123582102,2	K562	blood:
10	chr12:123459532..123461382-chr12:123578582..123581512,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111325	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10847980	0.93[JPT][hapmap]
rs11057239	1.00[YRI][hapmap]
rs11060762	0.88[CHB][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs1568918	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2280424	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs3759111	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[YRI][hapmap]
rs3759113	1.00[CEU][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap]
rs3759114	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs3782289	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4148857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148858	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4148865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4759362	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4759367	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4759407	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs4759408	1.00[YRI][hapmap]
rs4759411	1.00[YRI][hapmap]
rs4759413	1.00[YRI][hapmap]
rs4759414	1.00[YRI][hapmap]
rs596940	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs7398697	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7967118	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
2	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
3	chr12:123562400-123586600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:123567400-123588000	Enhancers	Left Ventricle	heart
5	chr12:123570800-123586600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123571000-123586600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
8	chr12:123571800-123582200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:123573200-123584200	Enhancers	Liver	Liver
10	chr12:123574400-123586800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:123576400-123589400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:123576600-123581400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:123576600-123588600	Enhancers	Right Ventricle	heart
14	chr12:123576800-123583200	Weak transcription	Primary B cells from cord blood	blood
15	chr12:123577000-123581000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:123577000-123590400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:123577200-123581200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:123577200-123584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:123577200-123586800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:123577400-123582400	Enhancers	Fetal Heart	heart
21	chr12:123577400-123589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:123577400-123590200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:123577800-123581400	Enhancers	Psoas Muscle	Psoas
24	chr12:123578000-123580800	Enhancers	Lung	lung
25	chr12:123578000-123580800	Enhancers	Ovary	ovary
26	chr12:123578000-123581200	Enhancers	Esophagus	oesophagus
27	chr12:123578000-123581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:123578000-123581600	Enhancers	Colonic Mucosa	Colon
29	chr12:123578000-123584400	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:123578200-123581600	Enhancers	Right Atrium	heart
31	chr12:123578200-123583000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:123578200-123583200	Enhancers	Colon Smooth Muscle	Colon
33	chr12:123578200-123584800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr12:123578200-123584800	Enhancers	Fetal Muscle Leg	muscle
35	chr12:123578400-123581000	Enhancers	Gastric	stomach
36	chr12:123578400-123582800	Enhancers	Brain Substantia Nigra	brain
37	chr12:123578600-123580800	Enhancers	NHDF-Ad	bronchial
38	chr12:123578600-123581000	Enhancers	Adipose Nuclei	Adipose
39	chr12:123578600-123581000	Enhancers	Pancreas	Pancrea
40	chr12:123578600-123582600	Enhancers	Brain Hippocampus Middle	brain
41	chr12:123578600-123583000	Enhancers	Brain Angular Gyrus	brain
42	chr12:123578600-123583200	Enhancers	NHLF	lung
43	chr12:123578600-123583400	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:123578800-123581200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:123578800-123581400	Enhancers	Brain Anterior Caudate	brain
46	chr12:123578800-123582600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:123578800-123583000	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:123579000-123582600	Enhancers	Fetal Brain Male	brain
49	chr12:123579200-123581400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:123579200-123581400	Enhancers	Duodenum Smooth Muscle	Duodenum

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