Variant report

Variant	rs2878752
Chromosome Location	chr16:72320307-72320308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72316333..72319342-chr16:72319918..72322341,3	K562	blood:
2	chr16:72319110..72320804-chr16:72323205..72325965,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492815	1.00[AFR][1000 genomes]
rs12051317	0.87[JPT][hapmap];1.00[AFR][1000 genomes]
rs12595984	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12596421	1.00[AFR][1000 genomes]
rs12596520	1.00[AFR][1000 genomes]
rs12596827	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12597916	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12598100	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12599861	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12600175	0.82[AMR][1000 genomes]
rs1437196	1.00[AFR][1000 genomes]
rs16970845	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16970852	1.00[AFR][1000 genomes]
rs16970879	1.00[AFR][1000 genomes]
rs16970888	1.00[AFR][1000 genomes]
rs16970895	1.00[AFR][1000 genomes]
rs16970901	1.00[AFR][1000 genomes]
rs16970906	1.00[AFR][1000 genomes]
rs16970922	1.00[AFR][1000 genomes]
rs2059901	1.00[AFR][1000 genomes]
rs2161659	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28823672	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28876074	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4788468	0.89[AMR][1000 genomes]
rs4788627	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4788629	1.00[AFR][1000 genomes]
rs4788633	1.00[AFR][1000 genomes]
rs4788634	1.00[AFR][1000 genomes]
rs4788637	1.00[AFR][1000 genomes]
rs58097957	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60144415	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs873899	1.00[AFR][1000 genomes]
rs9989361	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv906897	chr16:72283147-72326375	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv21113	chr16:72318729-72320874	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv1823053	chr16:72318825-72320505	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72302600-72332000	Weak transcription	Primary B cells from cord blood	blood
2	chr16:72313400-72323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:72315600-72353600	Weak transcription	Dnd41	blood
4	chr16:72315800-72320600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:72316000-72323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:72316600-72334800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:72317400-72331800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:72318200-72324200	Enhancers	HMEC	breast
9	chr16:72318600-72324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:72318600-72329200	Weak transcription	HepG2	liver
11	chr16:72318800-72320600	Weak transcription	Thymus	Thymus
12	chr16:72318800-72323600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:72319000-72320600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:72319200-72321000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:72319400-72320800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:72319600-72320800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:72319600-72324800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:72319800-72320400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr16:72320000-72320400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr16:72320000-72321000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr16:72320000-72322400	Enhancers	NHEK	skin
22	chr16:72320000-72323600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:72320000-72324200	Weak transcription	Osteobl	bone
24	chr16:72320000-72325200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr16:72320200-72320400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:72320200-72320600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:72320200-72324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links