Variant report

Variant	rs13377750
Chromosome Location	chr12:1705006-1705007
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	CHD1	chr12:1701397-1706266	IMR90	lung:	n/a	chr12:1703237-1703247 chr12:1704434-1704444 chr12:1703259-1703269 chr12:1703926-1703936
2	CUX1	chr12:1704697-1705032	K562	blood:	n/a	n/a
3	POLR2A	chr12:1701484-1705051	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:1700363..1702369-chr12:1703399..1707703,4	K562	blood:
2	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:
3	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:
4	chr12:1703685..1705372-chr12:1898619..1900530,2	K562	blood:

Variant related genes	Relation type
FBXL14	TF binding region
ENSG00000171823	Chromatin interaction
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10848534	1.00[EUR][1000 genomes]
rs11061875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11503087	1.00[EUR][1000 genomes]
rs11836960	1.00[EUR][1000 genomes]
rs11838210	1.00[EUR][1000 genomes]
rs12311264	1.00[EUR][1000 genomes]
rs58275451	1.00[EUR][1000 genomes]
rs7306444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312449	1.00[EUR][1000 genomes]
rs73605897	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73605900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73607803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73607820	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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 target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv556986	chr12:1702470-1705852	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1702600-1705200	Active TSS	Aorta	Aorta
2	chr12:1704000-1705600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:1704200-1705200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:1704200-1705400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:1704200-1705600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr12:1704200-1705600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:1704200-1705600	Flanking Active TSS	Osteobl	bone
8	chr12:1704400-1706200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr12:1704600-1705200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:1704600-1705200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:1704600-1705600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:1704600-1710800	Weak transcription	Ovary	ovary
13	chr12:1704800-1705200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:1704800-1705200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:1704800-1705200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:1704800-1705200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:1704800-1705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:1704800-1705200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:1704800-1705200	Enhancers	Fetal Heart	heart
20	chr12:1704800-1705200	Enhancers	A549	lung
21	chr12:1704800-1705200	Bivalent Enhancer	HepG2	liver
22	chr12:1704800-1705400	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:1704800-1705400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:1704800-1705400	Enhancers	Brain Angular Gyrus	brain
25	chr12:1704800-1705400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:1704800-1705400	Enhancers	Fetal Thymus	thymus
27	chr12:1704800-1705400	Enhancers	Thymus	Thymus
28	chr12:1704800-1705600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:1704800-1705600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:1704800-1705600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:1704800-1705600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:1704800-1705600	Enhancers	Stomach Mucosa	stomach
33	chr12:1704800-1705600	Enhancers	Hela-S3	cervix
34	chr12:1704800-1705800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr12:1704800-1706200	Enhancers	NH-A	brain
36	chr12:1704800-1710200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:1704800-1710200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:1704800-1710200	Weak transcription	Colonic Mucosa	Colon
39	chr12:1704800-1710400	Weak transcription	Brain Substantia Nigra	brain
40	chr12:1704800-1710600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:1704800-1710600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:1704800-1710800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:1704800-1710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:1704800-1713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:1704800-1714000	Weak transcription	Esophagus	oesophagus
46	chr12:1704800-1714200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:1704800-1714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:1705000-1705200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:1705000-1705200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr12:1705000-1705200	Enhancers	NHDF-Ad	bronchial

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