Variant report

Variant	rs11831009
Chromosome Location	chr12:57900683-57900684
allele	G/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	NR2F2	chr12:57900666-57901059	K562	blood:	n/a	n/a
2	NR2F2	chr12:57900645-57901032	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57896366..57901111-chr12:57901647..57907518,8	K562	blood:
2	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:

Variant related genes	Relation type
MARS	TF binding region
RNU6-594P	TF binding region
ENSG00000166987	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000252865	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000264046	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1148556	1.00[AMR][1000 genomes];0.85[EUR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57882800-57905800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:57883000-57910600	Weak transcription	Right Atrium	heart
3	chr12:57883200-57900800	Strong transcription	Thymus	Thymus
4	chr12:57883200-57902400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:57883200-57911200	Strong transcription	Fetal Intestine Small	intestine
6	chr12:57883400-57900800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:57883400-57903000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:57884000-57902400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:57884000-57903200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:57884400-57900800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:57885600-57911200	Weak transcription	Fetal Heart	heart
12	chr12:57888600-57912200	Strong transcription	Fetal Stomach	stomach
13	chr12:57892800-57908600	Weak transcription	Stomach Mucosa	stomach
14	chr12:57896200-57905400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:57896200-57905600	Weak transcription	NHDF-Ad	bronchial
16	chr12:57898200-57902800	Weak transcription	Hela-S3	cervix
17	chr12:57899000-57905200	Weak transcription	NHLF	lung
18	chr12:57899200-57905000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:57899600-57906400	Weak transcription	Small Intestine	intestine
20	chr12:57899800-57903000	Weak transcription	HUVEC	blood vessel
21	chr12:57900000-57904600	Weak transcription	Right Ventricle	heart
22	chr12:57900000-57905000	Weak transcription	Gastric	stomach
23	chr12:57900000-57905200	Weak transcription	Colonic Mucosa	Colon
24	chr12:57900200-57900800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:57900200-57901600	Weak transcription	Lung	lung
26	chr12:57900200-57902400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:57900200-57902600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:57900200-57902600	Weak transcription	HepG2	liver
29	chr12:57900200-57904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:57900200-57905000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:57900200-57905600	Weak transcription	Esophagus	oesophagus
32	chr12:57900400-57902400	Weak transcription	Primary B cells from cord blood	blood
33	chr12:57900400-57902400	Weak transcription	Fetal Brain Female	brain
34	chr12:57900400-57902600	Weak transcription	Adipose Nuclei	Adipose
35	chr12:57900400-57902800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:57900400-57903000	Weak transcription	Primary T cells from cord blood	blood
37	chr12:57900400-57903000	Weak transcription	Fetal Intestine Large	intestine
38	chr12:57900400-57904000	Weak transcription	Pancreas	Pancrea
39	chr12:57900400-57904200	Weak transcription	Brain Anterior Caudate	brain
40	chr12:57900400-57904600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:57900400-57905000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:57900400-57905400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:57900400-57905400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:57900400-57905400	Weak transcription	Ovary	ovary
45	chr12:57900400-57905600	Weak transcription	Fetal Brain Male	brain
46	chr12:57900600-57901600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:57900600-57901800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:57900600-57901800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:57900600-57901800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:57900600-57901800	Weak transcription	Primary monocytes fromperipheralblood	blood

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