Variant report

Variant	rs9834938
Chromosome Location	chr3:19976051-19976052
allele	A/G
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	TBP	chr3:19975422-19976094	K562	blood:	n/a	n/a
2	NR2F2	chr3:19975311-19976215	K562	blood:	n/a	n/a
3	RCOR1	chr3:19972538-19976115	K562	blood:	n/a	n/a
4	ZNF143	chr3:19975516-19976156	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZC3H11A	chr3:19975321-19976147	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:19975611..19979082-chr3:19987774..19990681,3	MCF-7	breast:

Variant related genes	Relation type
EFHB	TF binding region
ENSG00000163576	Chromatin interaction
ENSG00000144566	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28486043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28494818	1.00[AMR][1000 genomes]
rs73190458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9859286	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9862950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9878068	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9878676	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9878688	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv433358	chr3:19547184-19996508	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1828161	chr3:19547184-20062060	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1826254	chr3:19592688-20042834	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19973600-19979200	Weak transcription	HMEC	breast
2	chr3:19973600-19987200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:19973800-19978400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:19973800-19979000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:19974200-19979200	Weak transcription	Hela-S3	cervix
6	chr3:19975000-19976400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:19975200-19976400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:19975200-19976400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr3:19975400-19976200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:19975400-19976200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr3:19975400-19976200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:19975400-19976200	Enhancers	A549	lung
13	chr3:19975600-19987400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:19975800-19976200	Enhancers	NHEK	skin
15	chr3:19976000-19976200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:19976000-19976200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr3:19976000-19976200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:19976000-19976200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr3:19976000-19976800	Enhancers	K562	blood
20	chr3:19976000-19979000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:19976000-19979200	Weak transcription	HepG2	liver
22	chr3:19976000-19987400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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