Variant report

Variant	rs73415607
Chromosome Location	chr12:122332377-122332378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:122332240-122332390	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr12:122332300-122332450	NHEK	skin:	n/a	n/a
3	CTCF	chr12:122332320-122332470	NHLF	lung:	n/a	n/a
4	FOXM1	chr12:122331568-122332412	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr12:122332260-122332410	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr12:122332106-122333162	A549	lung:	n/a	n/a
7	CTCF	chr12:122332240-122332390	HMEC	breast:	n/a	n/a
8	MXI1	chr12:122331575-122332396	IMR90	lung:	n/a	n/a
9	CTCF	chr12:122332260-122332410	HEEpiC	esophagus:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122331642..122333879-chr12:122334386..122336333,3	MCF-7	breast:
2	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
3	chr12:122331116..122333896-chr12:122352806..122354784,2	MCF-7	breast:
4	chr12:122325172..122329151-chr12:122329541..122333817,7	MCF-7	breast:
5	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
6	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
7	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
8	chr12:122214009..122214701-chr12:122332315..122333181,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD9	TF binding region
ENSG00000188735	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000272849	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11043230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11829393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310449	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313193	0.87[AMR][1000 genomes]
rs12316702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13378033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413792	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415604	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974677	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr12:122327400-122333000	Weak transcription	Aorta	Aorta
2	chr12:122327400-122340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122327600-122340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:122327800-122332800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:122327800-122337400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:122327800-122341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:122328000-122332400	Enhancers	Fetal Intestine Large	intestine
8	chr12:122328200-122332400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:122328200-122332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:122328200-122332800	Weak transcription	Fetal Lung	lung
11	chr12:122328200-122333000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:122328200-122333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:122328200-122335800	Weak transcription	Psoas Muscle	Psoas
14	chr12:122328200-122339200	Weak transcription	Right Atrium	heart
15	chr12:122328200-122340000	Weak transcription	Fetal Heart	heart
16	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
17	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
18	chr12:122328600-122332800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:122328600-122332800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:122328600-122333400	Weak transcription	Ovary	ovary
21	chr12:122328800-122332600	Weak transcription	Colonic Mucosa	Colon
22	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:122329800-122332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:122329800-122344600	Strong transcription	Primary T cells from cord blood	blood
26	chr12:122329800-122355000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:122330200-122333000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:122330200-122334400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:122330400-122332400	Genic enhancers	Fetal Intestine Small	intestine
30	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:122330600-122332400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:122330600-122332400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:122330600-122332600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:122330600-122332600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:122330600-122333200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:122330600-122333200	Genic enhancers	Fetal Thymus	thymus
37	chr12:122330600-122353800	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:122330800-122332400	Genic enhancers	Brain Hippocampus Middle	brain
39	chr12:122330800-122332600	Enhancers	Liver	Liver
40	chr12:122330800-122332600	Enhancers	Thymus	Thymus
41	chr12:122330800-122332800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:122330800-122332800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:122330800-122332800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:122330800-122332800	Genic enhancers	NHEK	skin
45	chr12:122330800-122333000	Enhancers	HepG2	liver
46	chr12:122331000-122332400	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr12:122331000-122332400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:122331000-122332400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:122331000-122332400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:122331000-122332400	Enhancers	Muscle Satellite Cultured Cells	--

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