Variant report

Variant	rs115867252
Chromosome Location	chr12:12511650-12511651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr12:12510615-12511749	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:12509361-12511865	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:12509442-12511869	GM18505	blood:	n/a	n/a
4	POU2F2	chr12:12511059-12511789	GM12878	blood:	n/a	chr12:12511618-12511633 chr12:12511621-12511632 chr12:12511579-12511601 chr12:12511615-12511637 chr12:12511609-12511623 chr12:12511621-12511631
5	RELA	chr12:12509504-12511659	GM15510	blood:	n/a	n/a
6	RCOR1	chr12:12511607-12511704	K562	blood:	n/a	n/a
7	POLR2A	chr12:12509351-12511855	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:12509648-12511661	GM19099	blood:	n/a	n/a
9	EBF1	chr12:12511441-12511757	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:12511634-12511729	GM12878	blood:	n/a	n/a
11	TAF1	chr12:12511371-12511673	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:12509571-12511738	GM12878	blood:	n/a	n/a
13	HCFC1	chr12:12509371-12512219	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr12:12509523-12511862	GM12878	blood:	n/a	n/a
15	PML	chr12:12509379-12511753	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:12509599-12511716	GM12878	blood:	n/a	n/a
17	MTA3	chr12:12509494-12511654	GM12878	blood:	n/a	n/a
18	RCOR1	chr12:12511497-12511730	K562	blood:	n/a	n/a
19	EBF1	chr12:12511394-12511781	GM12878	blood:	n/a	n/a
20	MXI1	chr12:12509424-12511764	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr12:12509331-12511860	Raji	blood:	n/a	n/a
22	NFYB	chr12:12511419-12511698	GM12878	blood:	n/a	n/a
23	EBF1	chr12:12511429-12511748	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:12509630-12511733	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:12509599..12512153-chr12:12848294..12850312,2	MCF-7	breast:
2	chr12:12510791..12511698-chrX:119797918..119798865,2	Hela-S3	cervix:
3	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
4	chr12:12501083..12504981-chr12:12508403..12511914,10	MCF-7	breast:
5	chr12:12501756..12503820-chr12:12509545..12511706,2	MCF-7	breast:
6	chr12:12505582..12507087-chr12:12510779..12513309,2	MCF-7	breast:
7	chr12:12508678..12514314-chr12:12868637..12874427,7	K562	blood:
8	chr12:12505451..12508886-chr12:12510975..12514166,3	K562	blood:
9	chr12:12508799..12512106-chr12:12876417..12880418,4	MCF-7	breast:
10	chr12:12419370..12422118-chr12:12510348..12512093,2	MCF-7	breast:
11	chr12:12509330..12513233-chr12:12874960..12880946,8	K562	blood:
12	chr12:12510495..12512125-chr12:12760276..12763273,2	MCF-7	breast:
13	chr12:12508122..12513324-chr12:12871018..12878415,8	MCF-7	breast:

No data

Variant related genes	Relation type
LOH12CR2	TF binding region
ENSG00000070018	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000111261	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000183150	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1036040	chr12:12506839-12541869	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
5	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12509400-12511800	Active TSS	Right Atrium	heart
2	chr12:12509800-12511800	Active TSS	GM12878-XiMat	blood
3	chr12:12509800-12511800	Active TSS	K562	blood
4	chr12:12510400-12512200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr12:12510600-12511800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr12:12510600-12511800	Flanking Active TSS	Fetal Brain Female	brain
7	chr12:12510800-12511800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr12:12510800-12511800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:12510800-12512000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:12510800-12512200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr12:12510800-12512200	Flanking Active TSS	Dnd41	blood
12	chr12:12510800-12515800	Weak transcription	Lung	lung
13	chr12:12510800-12518000	Weak transcription	Gastric	stomach
14	chr12:12510800-12519800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:12510800-12527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:12510800-12528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:12511000-12511800	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr12:12511000-12511800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:12511000-12511800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:12511000-12515600	Weak transcription	Ovary	ovary
21	chr12:12511000-12520600	Weak transcription	Left Ventricle	heart
22	chr12:12511200-12511800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:12511200-12511800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:12511200-12512000	Enhancers	Colon Smooth Muscle	Colon
25	chr12:12511200-12512000	Enhancers	Fetal Heart	heart
26	chr12:12511200-12512000	Active TSS	Thymus	Thymus
27	chr12:12511200-12512200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:12511200-12512200	Enhancers	Fetal Kidney	kidney
29	chr12:12511200-12512200	Enhancers	Small Intestine	intestine
30	chr12:12511200-12522200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:12511200-12525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:12511400-12511800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:12511400-12511800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:12511400-12511800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:12511400-12511800	Enhancers	Liver	Liver
36	chr12:12511400-12511800	Enhancers	Fetal Brain Male	brain
37	chr12:12511400-12511800	Enhancers	A549	lung
38	chr12:12511400-12512000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:12511400-12512000	Enhancers	Fetal Muscle Leg	muscle
40	chr12:12511400-12512000	Enhancers	Fetal Thymus	thymus
41	chr12:12511400-12512000	Weak transcription	Psoas Muscle	Psoas
42	chr12:12511400-12512000	Enhancers	Stomach Mucosa	stomach
43	chr12:12511400-12512200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:12511400-12512200	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:12511400-12512200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:12511400-12512200	Enhancers	Fetal Intestine Large	intestine
47	chr12:12511400-12512600	Weak transcription	Pancreas	Pancrea
48	chr12:12511400-12512800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:12511400-12512800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr12:12511400-12513400	Enhancers	Primary B cells from peripheral blood	blood

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