Variant report

Variant	rs4404075
Chromosome Location	chr16:71391568-71391569
allele	G/T
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	CTCF	chr16:71391500-71391650	NHLF	lung:	n/a	n/a
2	BACH1	chr16:71391455-71391693	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr16:71391538-71393051	HCT-116	colon:	n/a	chr16:71392849-71392859 chr16:71391835-71391854 chr16:71392849-71392861 chr16:71392553-71392567 chr16:71392549-71392568
4	CTCF	chr16:71391480-71391630	BE2_C	brain:	n/a	n/a
5	CTCF	chr16:71391557-71391713	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr16:71391508-71392038	H1-hESC	embryonic stem cell:	n/a	chr16:71391835-71391854
7	CTCF	chr16:71391560-71391710	HCT-116	colon:	n/a	n/a
8	CTCF	chr16:71391520-71391670	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr16:71391540-71391690	AG04449	skin:	n/a	n/a
10	CTCF	chr16:71391410-71392996	A549	lung:	n/a	chr16:71392551-71392569 chr16:71392553-71392566 chr16:71392846-71392859 chr16:71392556-71392569 chr16:71392552-71392568 chr16:71391837-71391855 chr16:71391839-71391852 chr16:71392546-71392567 chr16:71392553-71392566
11	RAD21	chr16:71391561-71392896	HCT-116	colon:	n/a	chr16:71392849-71392859 chr16:71391835-71391854 chr16:71392849-71392861 chr16:71392553-71392567 chr16:71392549-71392568
12	RAD21	chr16:71391299-71392083	H1-hESC	embryonic stem cell:	n/a	chr16:71391835-71391854
13	CTCF	chr16:71391480-71391630	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71322881..71323537-chr16:71391312..71392129,2	MCF-7	breast:
2	chr16:71033324..71034616-chr16:71390965..71391955,3	MCF-7	breast:
3	chr16:71389754..71391626-chr16:71394077..71395778,2	MCF-7	breast:
4	chr16:71345865..71348331-chr16:71390071..71392582,2	MCF-7	breast:

Variant related genes	Relation type
CALB2	TF binding region
ENSG00000180917	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12933065	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7201920	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8054321	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv572949	chr16:71352071-71426563	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71385800-71391600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:71386000-71391800	Weak transcription	A549	lung
3	chr16:71386000-71392000	Weak transcription	NHEK	skin
4	chr16:71391200-71391600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr16:71391200-71391600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71391400-71391600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:71391400-71391600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:71391400-71391600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr16:71391400-71391600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr16:71391400-71391600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr16:71391400-71391600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:71391400-71391600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:71391400-71391800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
14	chr16:71391400-71391800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr16:71391400-71392000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr16:71391400-71392200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:71391400-71392200	Enhancers	Adipose Nuclei	Adipose
18	chr16:71391400-71392200	Bivalent Enhancer	Fetal Brain Female	brain
19	chr16:71391400-71392600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:71391400-71393000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links