Variant report

Variant	rs7201904
Chromosome Location	chr16:72323298-72323299
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	chr16:72321878..72323763-chr16:72669997..72671521,2	K562	blood:
2	chr16:72319110..72320804-chr16:72323205..72325965,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10153081	0.90[ASN][1000 genomes]
rs12598914	0.90[ASN][1000 genomes]
rs16970800	0.88[ASN][1000 genomes]
rs16970850	0.81[ASN][1000 genomes]
rs1837020	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1946767	0.90[ASN][1000 genomes]
rs2083030	0.86[ASN][1000 genomes]
rs2113192	0.80[ASN][1000 genomes]
rs2194316	0.97[ASN][1000 genomes]
rs28404857	0.84[ASN][1000 genomes]
rs62053982	0.81[ASN][1000 genomes]
rs6499568	0.86[ASN][1000 genomes]
rs7184674	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8050066	0.80[ASN][1000 genomes]
rs8058851	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9889215	0.88[ASN][1000 genomes]
rs9921177	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9929435	0.90[ASN][1000 genomes]
rs9929470	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9930344	0.81[ASN][1000 genomes]
rs9939039	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:28 , 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	chr16:72315600-72353600	Weak transcription	Dnd41	blood
3	chr16:72316000-72323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:72316600-72334800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:72317400-72331800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:72318200-72324200	Enhancers	HMEC	breast
7	chr16:72318600-72324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:72318600-72329200	Weak transcription	HepG2	liver
9	chr16:72318800-72323600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:72319600-72324800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:72320000-72323600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:72320000-72324200	Weak transcription	Osteobl	bone
13	chr16:72320000-72325200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:72320200-72324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:72320400-72325000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:72321000-72323800	Weak transcription	HSMM	muscle
17	chr16:72321000-72324000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr16:72321000-72324400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:72321000-72324600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:72321600-72324000	Weak transcription	NHDF-Ad	bronchial
21	chr16:72321800-72323800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:72321800-72324000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:72322800-72323600	Enhancers	Brain Anterior Caudate	brain
24	chr16:72322800-72324800	Enhancers	NHEK	skin
25	chr16:72323000-72323400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:72323000-72323400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr16:72323000-72324800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:72323200-72325800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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