Variant report

Variant	rs10083076
Chromosome Location	chr12:50782113-50782114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr12:50781932-50782253	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:50781974-50782120	K562	blood:	n/a	chr12:50782067-50782080 chr12:50782067-50782078
3	TBP	chr12:50781932-50782253	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:50781936-50782182	IMR90	lung:	n/a	chr12:50782067-50782080 chr12:50782067-50782078
5	CEBPB	chr12:50781897-50782248	HepG2	liver:	n/a	chr12:50782067-50782080 chr12:50782067-50782078
6	CEBPB	chr12:50781947-50782182	A549	lung:	n/a	chr12:50782067-50782080 chr12:50782067-50782078
7	CEBPB	chr12:50781973-50782182	H1-hESC	embryonic stem cell:	n/a	chr12:50782067-50782080 chr12:50782067-50782078

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50781163..50784058-chr12:50784396..50787586,3	MCF-7	breast:
2	chr12:50781735..50783474-chr12:51157275..51159680,2	K562	blood:

Variant related genes	Relation type
LARP4	TF binding region
ENSG00000161813	Chromatin interaction
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	1.00[EUR][1000 genomes]
rs10431533	1.00[EUR][1000 genomes]
rs10732734	1.00[EUR][1000 genomes]
rs10747576	1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	1.00[EUR][1000 genomes]
rs11169403	1.00[AMR][1000 genomes]
rs11169464	1.00[EUR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12297832	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs12298057	1.00[AMR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12302910	1.00[AMR][1000 genomes]
rs12308132	1.00[AMR][1000 genomes]
rs12308735	1.00[AMR][1000 genomes]
rs12312142	1.00[AMR][1000 genomes]
rs12312218	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs12314391	1.00[AMR][1000 genomes]
rs12316153	1.00[AMR][1000 genomes]
rs12317780	1.00[AMR][1000 genomes]
rs12318245	1.00[AMR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs12367373	1.00[EUR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4238103	1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	1.00[EUR][1000 genomes]
rs4334109	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4435082	1.00[EUR][1000 genomes]
rs4477515	1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4590959	1.00[EUR][1000 genomes]
rs4617660	1.00[EUR][1000 genomes]
rs4625558	1.00[EUR][1000 genomes]
rs4768854	1.00[EUR][1000 genomes]
rs4768896	1.00[EUR][1000 genomes]
rs4768897	1.00[EUR][1000 genomes]
rs4768898	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580746	1.00[EUR][1000 genomes]
rs6580749	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6580750	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6580758	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7296277	1.00[EUR][1000 genomes]
rs7298085	1.00[AMR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7304951	1.00[EUR][1000 genomes]
rs7305783	1.00[AMR][1000 genomes]
rs7305972	1.00[EUR][1000 genomes]
rs7309410	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	1.00[EUR][1000 genomes]
rs7310686	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7314198	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7314501	1.00[MEX][hapmap]
rs7954152	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	1.00[EUR][1000 genomes]
rs7966009	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9634263	1.00[EUR][1000 genomes]
rs9651998	1.00[AMR][1000 genomes]
rs9804978	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50770200-50783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:50780800-50782800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:50780800-50782800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:50780800-50786200	Enhancers	Placenta	Placenta
5	chr12:50781000-50782400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:50781000-50782800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:50781000-50783000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:50781000-50783200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:50781200-50782400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:50781200-50782800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:50781200-50782800	Flanking Active TSS	HepG2	liver
12	chr12:50781400-50782200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:50781400-50782200	Enhancers	Fetal Intestine Small	intestine
14	chr12:50781400-50782200	Enhancers	Lung	lung
15	chr12:50781600-50782200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:50781600-50782200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:50781600-50782200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:50781600-50782800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:50781800-50782200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:50781800-50782800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:50781800-50783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:50781800-50783400	Weak transcription	HMEC	breast
23	chr12:50781800-50783800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:50781800-50794000	Weak transcription	Fetal Kidney	kidney
25	chr12:50782000-50782800	Enhancers	Gastric	stomach
26	chr12:50782000-50783400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:50782000-50783400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:50782000-50783400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:50782000-50783400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:50782000-50783400	Weak transcription	Hela-S3	cervix
31	chr12:50782000-50783400	Weak transcription	NHDF-Ad	bronchial
32	chr12:50782000-50783400	Weak transcription	Osteobl	bone
33	chr12:50782000-50783600	Weak transcription	Fetal Intestine Large	intestine
34	chr12:50782000-50783600	Weak transcription	A549	lung
35	chr12:50782000-50783600	Weak transcription	NHLF	lung
36	chr12:50782000-50783800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:50782000-50783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:50782000-50790400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:50782000-50794000	Weak transcription	Fetal Heart	heart

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