Variant report

Variant	rs34551572
Chromosome Location	chr12:57920368-57920369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57919812-57921069	U87	brain:	n/a	n/a
2	POLR2A	chr12:57919770-57921165	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:57920348-57920785	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:57908382-57921207	K562	blood:	n/a	n/a
5	POLR2A	chr12:57915375-57927219	K562	blood:	n/a	n/a
6	POLR2A	chr12:57912610-57921102	K562	blood:	n/a	n/a
7	POLR2A	chr12:57919519-57921589	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr12:57908062-57920927	K562	blood:	n/a	n/a
9	POLR2A	chr12:57919969-57920661	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr12:57920315-57920907	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:57920348-57920916	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:57919826-57920896	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr12:57919633-57920622	K562	blood:	n/a	n/a
14	POLR2A	chr12:57919847-57921061	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57919943..57923943-chr12:57984305..57987540,4	MCF-7	breast:
2	chr12:57856862..57858591-chr12:57918787..57921199,2	MCF-7	breast:
3	chr12:57880789..57883714-chr12:57919502..57921245,2	K562	blood:

No data

Variant related genes	Relation type
MBD6	TF binding region
ENSG00000123329	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000111087	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11835158	0.92[AFR][1000 genomes]
rs17119735	1.00[AMR][1000 genomes]
rs703840	1.00[MEX][hapmap]
rs73344088	1.00[AMR][1000 genomes]
rs73346006	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747341	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7965140	1.00[ASW][hapmap];0.85[LWK][hapmap];0.98[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak 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	96 gene(s)	inside rSNPs	diseases
4	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers 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	89 gene(s)	inside rSNPs	diseases
8	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
9	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' 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	89 gene(s)	inside rSNPs	diseases
11	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	126 gene(s)	inside rSNPs	diseases
14	nsv899120	chr12:57886609-57921188	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57917200-57920800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:57917400-57922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:57917600-57920400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:57917600-57921000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:57917600-57939600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:57917800-57920600	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr12:57917800-57920800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:57917800-57921400	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr12:57917800-57922400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:57918000-57920400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:57918000-57921200	Genic enhancers	Fetal Muscle Leg	muscle
12	chr12:57918000-57924000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:57918200-57921000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:57918400-57920800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:57918400-57920800	Genic enhancers	Fetal Thymus	thymus
16	chr12:57918400-57921200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:57918400-57929400	Strong transcription	Ovary	ovary
18	chr12:57918400-57929800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:57918600-57920600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:57918600-57920800	Genic enhancers	Adipose Nuclei	Adipose
21	chr12:57918600-57920800	Genic enhancers	Brain Germinal Matrix	brain
22	chr12:57918600-57921000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:57918600-57921000	Weak transcription	HSMMtube	muscle
24	chr12:57918600-57921000	Weak transcription	NH-A	brain
25	chr12:57918600-57921800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:57918600-57923400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:57918600-57924400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:57918600-57925400	Weak transcription	Fetal Kidney	kidney
29	chr12:57918600-57925400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:57918600-57929000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:57918600-57929600	Strong transcription	Aorta	Aorta
32	chr12:57918600-57929600	Strong transcription	Rectal Smooth Muscle	rectum
33	chr12:57918600-57930400	Strong transcription	Lung	lung
34	chr12:57918600-57933600	Strong transcription	Brain Hippocampus Middle	brain
35	chr12:57918600-57934800	Strong transcription	Osteobl	bone
36	chr12:57918600-57936400	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr12:57918600-57939600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:57918800-57921600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:57918800-57922800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:57918800-57923800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:57918800-57929000	Strong transcription	Small Intestine	intestine
42	chr12:57918800-57929400	Strong transcription	Gastric	stomach
43	chr12:57918800-57929600	Strong transcription	Brain Substantia Nigra	brain
44	chr12:57918800-57929600	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr12:57918800-57929800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:57918800-57929800	Strong transcription	Fetal Lung	lung
47	chr12:57918800-57930600	Strong transcription	Primary T cells from cord blood	blood
48	chr12:57918800-57933800	Strong transcription	NHEK	skin
49	chr12:57919000-57920400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:57919000-57920400	Weak transcription	Primary hematopoietic stem cells	blood

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