Variant report

Variant	rs572271428
Chromosome Location	chr12:1770529-1770530
allele	-/CT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:1770168-1770640	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:1770151-1770670	A549	lung:	n/a	n/a
3	HEY1	chr12:1770038-1771026	HepG2	liver:	n/a	chr12:1770752-1770767
4	POLR2A	chr12:1770151-1771475	A549	lung:	n/a	n/a
5	SIN3AK20	chr12:1770229-1770682	HepG2	liver:	n/a	n/a
6	PAX5	chr12:1770163-1770719	GM12878	blood:	n/a	n/a
7	REST	chr12:1770212-1770661	HepG2	liver:	n/a	n/a
8	TCF12	chr12:1770165-1770702	HepG2	liver:	n/a	n/a
9	NR3C1	chr12:1770062-1770854	A549	lung:	n/a	n/a
10	FOSL2	chr12:1770083-1770789	HepG2	liver:	n/a	n/a
11	SIX5	chr12:1770117-1770749	K562	blood:	n/a	n/a
12	NR3C1	chr12:1770225-1770628	A549	lung:	n/a	n/a
13	POLR2A	chr12:1768890-1771564	Hela-S3	cervix:	n/a	n/a
14	POU2F2	chr12:1770094-1770676	GM12891	blood:	n/a	n/a
15	REST	chr12:1770135-1770652	PFSK-1	brain:	n/a	n/a
16	HEY1	chr12:1770115-1770708	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:1769818..1772528-chr12:1789216..1791447,2	MCF-7	breast:
2	chr12:1769575..1772464-chr12:1879364..1881156,2	MCF-7	breast:
3	chr12:1713956..1716010-chr12:1769729..1772627,2	K562	blood:
4	chr12:1768367..1774746-chr12:1797764..1801789,11	MCF-7	breast:
5	chr12:1769759..1773174-chr12:1808605..1811319,4	K562	blood:
6	chr12:1769387..1773191-chr12:1797591..1801415,7	K562	blood:
7	chr12:1714073..1716320-chr12:1769729..1772377,3	K562	blood:
8	chr12:1769849..1773599-chr12:1775643..1780093,7	K562	blood:
9	chr12:1727058..1729024-chr12:1769642..1771498,2	K562	blood:
10	chr12:1770529..1774414-chr12:1775801..1779567,5	K562	blood:
11	chr12:1769631..1770598-chr12:130611123..130611927,2	Hela-S3	cervix:
12	chr11:61735698..61736575-chr12:1770400..1771018,2	Hela-S3	cervix:
13	chr12:1769374..1771394-chr12:1903241..1905339,2	K562	blood:
14	chr12:1769488..1776078-chr12:1798561..1806450,20	K562	blood:

No data

Variant related genes	Relation type
MIR3649	TF binding region
ENSG00000151062	Chromatin interaction
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
6	esv10541	chr12:1770132-1770672	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2921	chr12:1770201-1770716	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3344009	chr12:1770516-1773064	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1754200-1770600	Weak transcription	Colonic Mucosa	Colon
2	chr12:1758000-1770800	Weak transcription	HSMMtube	muscle
3	chr12:1758400-1770600	Weak transcription	NH-A	brain
4	chr12:1759800-1770600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:1760200-1770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:1760800-1770800	Weak transcription	HSMM	muscle
7	chr12:1761400-1770800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:1761600-1770800	Weak transcription	NHLF	lung
9	chr12:1764400-1770600	Weak transcription	Osteobl	bone
10	chr12:1764800-1770800	Weak transcription	NHDF-Ad	bronchial
11	chr12:1767800-1770600	Enhancers	Fetal Intestine Large	intestine
12	chr12:1768600-1770600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:1768600-1770600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:1768800-1770600	Enhancers	Pancreas	Pancrea
15	chr12:1768800-1770800	Enhancers	Stomach Mucosa	stomach
16	chr12:1769000-1770600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:1769000-1770600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:1769000-1770600	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:1769000-1770600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:1769000-1770600	Enhancers	HMEC	breast
21	chr12:1769000-1770800	Enhancers	HUVEC	blood vessel
22	chr12:1769000-1771000	Enhancers	K562	blood
23	chr12:1769000-1771400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:1769200-1770600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:1769200-1770600	Weak transcription	Psoas Muscle	Psoas
26	chr12:1769200-1770600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr12:1769200-1770600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr12:1769200-1770600	Weak transcription	Right Ventricle	heart
29	chr12:1769200-1771400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:1769400-1770600	Enhancers	Fetal Thymus	thymus
31	chr12:1769400-1770600	Enhancers	A549	lung
32	chr12:1769400-1770800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:1769400-1771200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:1769600-1770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:1769600-1770600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:1769600-1770600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:1769600-1770600	Weak transcription	Esophagus	oesophagus
38	chr12:1769600-1770600	Weak transcription	Placenta	Placenta
39	chr12:1769600-1770800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:1769600-1771400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:1769600-1772400	Enhancers	Fetal Brain Male	brain
42	chr12:1769800-1770600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:1769800-1770600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:1769800-1770600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:1769800-1770600	Weak transcription	Left Ventricle	heart
46	chr12:1769800-1770600	Weak transcription	Ovary	ovary
47	chr12:1769800-1770600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr12:1769800-1770800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:1769800-1771000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:1769800-1771000	Enhancers	Primary B cells from cord blood	blood

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