Variant report

Variant	rs542968214
Chromosome Location	chr1:45989279-45989280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:45989026-45989583	K562	blood:	n/a	n/a
2	CEBPD	chr1:45989124-45989687	K562	blood:	n/a	n/a
3	RCOR1	chr1:45989224-45989561	K562	blood:	n/a	n/a
4	GATA2	chr1:45989066-45989596	K562	blood:	n/a	n/a
5	POLR2A	chr1:45989226-45989293	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45184712..45189957-chr1:45986029..45989344,7	K562	blood:
2	chr1:45982342..45989534-chr1:46006947..46020678,57	K562	blood:
3	chr1:45975860..45989626-chr1:46030076..46041078,36	K562	blood:
4	chr1:45976870..45989534-chr1:46007918..46019226,54	K562	blood:
5	chr1:45805140..45807328-chr1:45987853..45992059,3	K562	blood:
6	chr1:45985569..45992282-chr1:46014173..46025125,38	MCF-7	breast:
7	chr1:45982844..45990993-chr1:46030121..46038313,25	K562	blood:
8	chr1:45980210..45995142-chr1:46046095..46057139,89	K562	blood:
9	chr1:45284090..45287076-chr1:45986937..45989870,4	K562	blood:
10	chr1:45974558..45995867-chr1:46046173..46057010,94	K562	blood:
11	chr1:45826987..45828662-chr1:45989193..45991039,2	K562	blood:
12	chr1:45987332..45989335-chr1:46087766..46089426,2	K562	blood:
13	chr1:45985342..45989391-chr1:46011113..46019467,18	MCF-7	breast:

No data

Variant related genes	Relation type
PRDX1	TF binding region
ENSG00000202444	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000159588	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000132780	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
6	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
7	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
8	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
9	esv3522720	chr1:45989173-45989598	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	esv3363475	chr1:45989174-45989617	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
11	esv3522721	chr1:45989241-45989554	Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45988200-45990000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:45988200-45990000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:45988200-45990600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:45988200-45990600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:45988200-45990800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:45988200-45990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:45988200-45991000	Enhancers	Dnd41	blood
8	chr1:45988200-45992200	Weak transcription	Fetal Lung	lung
9	chr1:45988200-45993000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:45988400-45989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:45988400-45990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:45988400-45992200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:45988400-45992200	Weak transcription	Fetal Kidney	kidney
14	chr1:45988400-45993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:45988400-45997200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:45988600-45990000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:45988600-45990600	Weak transcription	HSMMtube	muscle
18	chr1:45988600-45991000	Weak transcription	Liver	Liver
19	chr1:45988600-45992200	Weak transcription	Fetal Heart	heart
20	chr1:45988600-45992200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:45988600-45993400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:45988800-45989600	Enhancers	K562	blood
23	chr1:45988800-45989800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:45988800-45990600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:45988800-45990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:45989000-45990600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:45989000-45990600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:45989000-45990600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:45989000-45990600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:45989000-45990600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:45989000-45990600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:45989000-45990600	Weak transcription	Stomach Mucosa	stomach
33	chr1:45989000-45993200	Weak transcription	Placenta	Placenta
34	chr1:45989200-45989400	Enhancers	Hela-S3	cervix
35	chr1:45989200-45990200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:45989200-45990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:45989200-45990600	Weak transcription	A549	lung
38	chr1:45989200-45990600	Weak transcription	HepG2	liver
39	chr1:45989200-46000600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links