Variant report

Variant	rs534056048
Chromosome Location	chr1:169074359-169074360
allele	A/C
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	CTBP2	chr1:169074352-169076271	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr1:169074351-169076481	K562	blood:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
3	MYC	chr1:169074306-169076825	NB4	blood:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
4	POLR2A	chr1:169074283-169076982	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF12	chr1:169074352-169077666	A549	lung:	n/a	chr1:169075044-169075054 chr1:169075804-169075811 chr1:169075253-169075260
6	POLR2A	chr1:169074261-169080200	HepG2	liver:	n/a	n/a
7	GATA2	chr1:169074282-169076748	SH-SY5Y	brain:	n/a	chr1:169074391-169074401 chr1:169074711-169074722 chr1:169074469-169074478

No.	Distal block	Cell Line	Cell type
1	chr1:169055830..169060702-chr1:169073415..169077056,5	MCF-7	breast:
2	chr1:169073561..169077593-chr1:169336088..169341683,7	K562	blood:
3	chr1:169071736..169074539-chr1:169075134..169076733,2	K562	blood:
4	chr1:169073666..169076222-chr8:146016630..146018644,2	MCF-7	breast:
5	chr1:169073988..169075864-chr6:26199270..26200811,2	MCF-7	breast:
6	chr1:169073990..169076920-chr1:169277266..169279793,2	K562	blood:
7	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000143156	Chromatin interaction
ENSG00000117475	Chromatin interaction
ENSG00000143153	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000161016	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000203601	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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv3323390	chr1:169074353-169076901	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169068000-169074600	Enhancers	Fetal Heart	heart
2	chr1:169068800-169074600	Enhancers	Fetal Intestine Large	intestine
3	chr1:169068800-169074600	Enhancers	Fetal Intestine Small	intestine
4	chr1:169069200-169074400	Enhancers	HepG2	liver
5	chr1:169070600-169074400	Enhancers	A549	lung
6	chr1:169070600-169074600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:169071600-169074400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:169071600-169074400	Enhancers	Stomach Mucosa	stomach
9	chr1:169071600-169074600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:169072000-169074400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:169072000-169074400	Weak transcription	Fetal Lung	lung
12	chr1:169072200-169074800	Weak transcription	Right Atrium	heart
13	chr1:169072400-169074400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:169072400-169074600	Weak transcription	Fetal Brain Female	brain
15	chr1:169072400-169075000	Weak transcription	Aorta	Aorta
16	chr1:169072600-169074400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:169072600-169074400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr1:169072600-169074600	Enhancers	Pancreas	Pancrea
19	chr1:169072600-169074800	Enhancers	Brain Substantia Nigra	brain
20	chr1:169072800-169074400	Enhancers	Brain Hippocampus Middle	brain
21	chr1:169072800-169074400	Enhancers	Colonic Mucosa	Colon
22	chr1:169072800-169074400	Enhancers	Fetal Kidney	kidney
23	chr1:169072800-169074400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:169072800-169074600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:169072800-169074800	Enhancers	Esophagus	oesophagus
26	chr1:169073000-169074400	Weak transcription	Brain Angular Gyrus	brain
27	chr1:169073000-169074600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:169073000-169074600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:169073000-169074600	Weak transcription	Left Ventricle	heart
30	chr1:169073200-169074400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:169073200-169074400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:169073200-169074600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:169073200-169074800	Weak transcription	Ovary	ovary
34	chr1:169073200-169074800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:169073200-169075000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:169073400-169074800	Enhancers	Small Intestine	intestine
37	chr1:169073600-169074400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr1:169073600-169074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:169073800-169074400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:169073800-169074600	Enhancers	Gastric	stomach
41	chr1:169074000-169074400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr1:169074000-169074400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr1:169074000-169074400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr1:169074000-169074400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:169074000-169074400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:169074000-169074400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:169074000-169074400	Active TSS	Brain Germinal Matrix	brain
48	chr1:169074000-169074600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:169074000-169074600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:169074000-169074600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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