Variant report

Variant	rs60624959
Chromosome Location	chr16:82049884-82049885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:82049740-82049890	HFF-Myc	foreskin:	n/a	n/a
2	SETDB1	chr16:82049820-82050698	U2OS	brain:	n/a	n/a
3	SMC3	chr16:82049871-82050195	HepG2	liver:	n/a	n/a
4	RAD21	chr16:82049852-82050242	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr16:82049824-82050305	MCF-7	breast:	n/a	n/a
6	SPI1	chr16:82049880-82050093	GM12891	blood:	n/a	n/a
7	CTCF	chr16:82049810-82050413	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82043593..82046286-chr16:82047903..82050151,2	MCF-7	breast:
2	chr16:82049516..82052085-chr16:82055995..82058256,2	K562	blood:
3	chr16:82049544..82050394-chr16:82263299..82263885,2	MCF-7	breast:

No data

Variant related genes	Relation type
SDR42E1	TF binding region
ENSG00000184860	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11861143	1.00[ASN][1000 genomes]
rs11861598	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11862886	1.00[AMR][1000 genomes]
rs11865090	1.00[ASN][1000 genomes]
rs13335950	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336004	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956140	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956146	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956238	1.00[AMR][1000 genomes]
rs28880295	1.00[ASN][1000 genomes]
rs4383138	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184155	1.00[ASN][1000 genomes]
rs7187542	0.86[AFR][1000 genomes]
rs7199278	1.00[ASN][1000 genomes]
rs7200056	1.00[ASN][1000 genomes]
rs7203187	0.86[AFR][1000 genomes]
rs7203196	0.86[AFR][1000 genomes]
rs7203437	0.86[AFR][1000 genomes]
rs7205168	1.00[ASN][1000 genomes]
rs7206573	1.00[ASN][1000 genomes]
rs72820823	1.00[ASN][1000 genomes]
rs72823102	1.00[ASN][1000 genomes]
rs72824903	1.00[ASN][1000 genomes]
rs72824907	1.00[ASN][1000 genomes]
rs72824911	1.00[ASN][1000 genomes]
rs8047385	1.00[ASN][1000 genomes]
rs8049006	1.00[ASN][1000 genomes]
rs8051345	1.00[ASN][1000 genomes]
rs9924347	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9925255	1.00[ASN][1000 genomes]
rs9926701	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932209	1.00[ASN][1000 genomes]
rs9934119	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 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	chr16:82049600-82050000	Enhancers	Fetal Intestine Small	intestine
2	chr16:82049600-82050000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr16:82049600-82050200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82049600-82050200	Enhancers	Liver	Liver
5	chr16:82049600-82050200	Bivalent/Poised TSS	A549	lung
6	chr16:82049600-82050400	Flanking Active TSS	Stomach Mucosa	stomach
7	chr16:82049600-82050600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:82049600-82051800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:82049600-82051800	Enhancers	NHDF-Ad	bronchial
10	chr16:82049800-82050000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:82049800-82050000	Active TSS	Duodenum Mucosa	Duodenum
12	chr16:82049800-82050000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr16:82049800-82050000	Active TSS	HMEC	breast
14	chr16:82049800-82050200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:82049800-82050200	Enhancers	Aorta	Aorta
16	chr16:82049800-82050200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr16:82049800-82050400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr16:82049800-82050400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:82049800-82050400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr16:82049800-82050400	Flanking Active TSS	HUVEC	blood vessel
21	chr16:82049800-82050600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:82049800-82050600	Flanking Active TSS	NHEK	skin

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