Variant report

Variant	rs4887808
Chromosome Location	chr16:75232384-75232385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75231754..75233579-chr16:75584595..75587243,2	MCF-7	breast:
2	chr16:75232238..75233902-chr16:75497812..75499223,14	MCF-7	breast:
3	chr16:75182384..75183899-chr16:75231105..75233617,2	MCF-7	breast:
4	chr16:75221442..75223810-chr16:75231803..75233411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166822	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000184517	Chromatin interaction

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

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

rs_ID	r²[population]
rs1019539	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10871304	0.88[EUR][1000 genomes]
rs12918452	0.80[EUR][1000 genomes]
rs1559361	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870466	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870467	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479268	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737	0.82[EUR][1000 genomes]
rs4888355	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888356	1.00[ASN][1000 genomes]
rs6564220	0.87[EUR][1000 genomes]
rs6564221	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564222	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564223	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205074	0.88[EUR][1000 genomes]
rs8046665	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050765	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8053265	0.88[EUR][1000 genomes]
rs8055472	0.87[EUR][1000 genomes]
rs8057843	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921632	0.86[EUR][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	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75228400-75232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:75230200-75232400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75231600-75232600	Flanking Bivalent TSS/Enh	HepG2	liver
4	chr16:75231800-75232400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:75231800-75232400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:75231800-75232400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr16:75231800-75232400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:75231800-75232400	Enhancers	Fetal Heart	heart
9	chr16:75231800-75232400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr16:75231800-75232400	Flanking Bivalent TSS/Enh	Osteobl	bone
11	chr16:75231800-75232600	Bivalent Enhancer	Fetal Stomach	stomach
12	chr16:75231800-75232600	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr16:75232000-75232400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr16:75232000-75232400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:75232000-75232400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:75232000-75232400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:75232000-75232400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:75232000-75232400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:75232000-75232400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:75232000-75232400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr16:75232000-75232400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr16:75232000-75232400	Enhancers	Left Ventricle	heart
23	chr16:75232000-75232400	Enhancers	Ovary	ovary
24	chr16:75232000-75232400	Enhancers	Pancreas	Pancrea
25	chr16:75232000-75232400	Bivalent Enhancer	HSMM	muscle
26	chr16:75232000-75232400	Bivalent Enhancer	HUVEC	blood vessel
27	chr16:75232000-75232400	Flanking Bivalent TSS/Enh	K562	blood
28	chr16:75232000-75232600	Bivalent Enhancer	Fetal Lung	lung
29	chr16:75232000-75232600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr16:75232000-75232600	Bivalent Enhancer	GM12878-XiMat	blood
31	chr16:75232000-75232600	Enhancers	HSMMtube	muscle
32	chr16:75232200-75232400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:75232200-75232400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:75232200-75232400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
35	chr16:75232200-75232400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:75232200-75232400	Bivalent Enhancer	Brain Anterior Caudate	brain
37	chr16:75232200-75232400	Flanking Active TSS	Placenta	Placenta
38	chr16:75232200-75232400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr16:75232200-75232400	Bivalent Enhancer	Small Intestine	intestine
40	chr16:75232200-75232400	Active TSS	NHLF	lung
41	chr16:75232200-75232600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr16:75232200-75232600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr16:75232200-75232600	Flanking Active TSS	A549	lung
44	chr16:75232200-75232600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr16:75232200-75235200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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