Variant report

Variant	rs3829699
Chromosome Location	chr20:1313993-1313994
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:1312270-1318121	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr20:1313988-1314311	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:1313991-1314006	K562	blood:	n/a	n/a
4	POLR2A	chr20:1313593-1315919	HepG2	liver:	n/a	n/a
5	POLR2A	chr20:1313948-1314236	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr20:1313362-1314804	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr20:1312573-1316280	K562	blood:	n/a	n/a
8	POLR2A	chr20:1313966-1315168	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:1313519..1315747-chr20:1323872..1325859,2	MCF-7	breast:
2	chr20:1303741..1307612-chr20:1308466..1314134,7	MCF-7	breast:
3	chr20:1304802..1306407-chr20:1313122..1314784,2	MCF-7	breast:
4	chr20:1311744..1314670-chr20:1315786..1318493,2	MCF-7	breast:

No data

Variant related genes	Relation type
SDCBP2	TF binding region
ENSG00000234684	Chromatin interaction
ENSG00000203630	Chromatin interaction
ENSG00000125775	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1307000-1314400	Enhancers	Left Ventricle	heart
2	chr20:1307200-1315400	Weak transcription	Aorta	Aorta
3	chr20:1307400-1319000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr20:1307600-1314400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr20:1307600-1315200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr20:1307600-1315200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr20:1307600-1315800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr20:1307600-1327200	Weak transcription	Fetal Brain Female	brain
9	chr20:1307600-1340400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr20:1307800-1315200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr20:1307800-1316200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr20:1307800-1319400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr20:1308200-1317800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr20:1308400-1317000	Weak transcription	Brain Substantia Nigra	brain
15	chr20:1308800-1315400	Weak transcription	Fetal Heart	heart
16	chr20:1308800-1316800	Weak transcription	NH-A	brain
17	chr20:1308800-1317000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr20:1308800-1318000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr20:1309000-1315000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:1309000-1322000	Weak transcription	HSMMtube	muscle
21	chr20:1309600-1315400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr20:1309600-1317200	Weak transcription	Colon Smooth Muscle	Colon
23	chr20:1309800-1315600	Strong transcription	Fetal Stomach	stomach
24	chr20:1309800-1335400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr20:1310000-1314000	Weak transcription	Hela-S3	cervix
26	chr20:1310000-1314200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:1310000-1316800	Weak transcription	NHLF	lung
28	chr20:1310000-1317000	Weak transcription	Brain Hippocampus Middle	brain
29	chr20:1310000-1317600	Weak transcription	Ovary	ovary
30	chr20:1310000-1348800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr20:1310200-1314600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr20:1310200-1315600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:1310200-1321400	Weak transcription	K562	blood
34	chr20:1310400-1315200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr20:1310400-1316200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr20:1310800-1314600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr20:1311000-1314600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr20:1311000-1314600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:1311000-1314800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr20:1311000-1317400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr20:1311000-1317600	Strong transcription	Dnd41	blood
42	chr20:1311200-1314600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr20:1311400-1314800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr20:1311400-1315200	Weak transcription	HMEC	breast
45	chr20:1311400-1315400	Strong transcription	A549	lung
46	chr20:1311400-1316600	Weak transcription	Liver	Liver
47	chr20:1311400-1317000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr20:1311600-1314400	Strong transcription	Fetal Thymus	thymus
49	chr20:1311600-1316800	Weak transcription	Gastric	stomach
50	chr20:1311600-1316800	Weak transcription	GM12878-XiMat	blood

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