Variant report

Variant	rs545613438
Chromosome Location	chr1:156339752-156339753
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	POLR2A	chr1:156338685-156339828	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:156336907-156344214	HepG2	liver:	n/a	n/a
3	MBD4	chr1:156339265-156339896	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:156339453-156339821	HepG2	liver:	n/a	n/a
5	ZEB1	chr1:156336577-156339970	HepG2	liver:	n/a	chr1:156338920-156338927
6	POLR2A	chr1:156338600-156339892	HepG2	liver:	n/a	n/a
7	HEY1	chr1:156338531-156339877	HepG2	liver:	n/a	chr1:156338975-156338990

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:156335306..156343282-chr1:156347773..156352892,8	MCF-7	breast:
2	chr1:156305358..156309501-chr1:156336177..156340436,7	MCF-7	breast:

Variant related genes	Relation type
CCT3	TF binding region
ENSG00000132677	Chromatin interaction
ENSG00000163468	Chromatin interaction
ENSG00000163467	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	380 gene(s)	inside rSNPs	diseases
3	nsv915822	chr1:156226286-156651655	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
4	nsv872471	chr1:156287360-156356480	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv470742	chr1:156335111-156354367	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1793632	chr1:156338992-156366178	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
7	nsv946358	chr1:156339735-156342442	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156338200-156341400	Weak transcription	Hela-S3	cervix
2	chr1:156338600-156339800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:156338600-156339800	Flanking Active TSS	Liver	Liver
4	chr1:156338800-156339800	Flanking Active TSS	Spleen	Spleen
5	chr1:156338800-156339800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr1:156339000-156339800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:156339000-156339800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:156339000-156339800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:156339000-156339800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr1:156339200-156339800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr1:156339400-156339800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr1:156339400-156339800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:156339400-156339800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr1:156339400-156339800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr1:156339400-156339800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
16	chr1:156339400-156339800	Bivalent Enhancer	Fetal Lung	lung
17	chr1:156339400-156339800	Enhancers	Pancreas	Pancrea
18	chr1:156339400-156339800	Enhancers	Right Ventricle	heart
19	chr1:156339400-156341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:156339400-156341800	Weak transcription	Brain Anterior Caudate	brain
21	chr1:156339600-156339800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr1:156339600-156339800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:156339600-156339800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr1:156339600-156339800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:156339600-156339800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:156339600-156339800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr1:156339600-156339800	Enhancers	Esophagus	oesophagus
28	chr1:156339600-156339800	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr1:156339600-156339800	Active TSS	Ovary	ovary
30	chr1:156339600-156339800	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr1:156339600-156340000	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr1:156339600-156341200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:156339600-156341400	Weak transcription	A549	lung
34	chr1:156339600-156341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:156339600-156358000	Weak transcription	Right Atrium	heart

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