Variant report

Variant	rs28712876
Chromosome Location	chr16:71678762-71678763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71658774..71660870-chr16:71677637..71681268,4	MCF-7	breast:
2	chr16:71598333..71600187-chr16:71678288..71680430,2	MCF-7	breast:
3	chr16:71668341..71670182-chr16:71677520..71679473,2	MCF-7	breast:
4	chr16:71678612..71682239-chr16:71682630..71684889,3	K562	blood:
5	chr16:71670871..71673834-chr16:71677246..71679365,2	MCF-7	breast:
6	chr16:71662133..71664781-chr16:71677927..71680066,3	MCF-7	breast:
7	chr16:71677217..71680123-chr16:71756735..71758900,2	K562	blood:

Variant related genes	Relation type
ENSG00000261513	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000260593	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000260886	Chromatin interaction
ENSG00000157429	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11075896	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11075897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334187	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334255	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334566	0.88[AFR][1000 genomes]
rs13337162	1.00[AFR][1000 genomes]
rs13337224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339574	0.95[AFR][1000 genomes]
rs28436203	1.00[AMR][1000 genomes]
rs28487278	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28556848	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28681277	0.97[AFR][1000 genomes]
rs28744680	0.87[AFR][1000 genomes]
rs28757746	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34113755	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55829421	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930830	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209933	0.87[AFR][1000 genomes]
rs57187537	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57827931	0.95[AFR][1000 genomes]
rs58324033	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60173154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61258964	0.85[AFR][1000 genomes]
rs7196013	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582208	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582231	1.00[AMR][1000 genomes]
rs8048170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059131	1.00[AMR][1000 genomes]
rs8062948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063658	1.00[AMR][1000 genomes]
rs9302626	0.87[AFR][1000 genomes]
rs9302628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921552	1.00[AFR][1000 genomes]
rs9924829	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924862	1.00[AFR][1000 genomes]
rs9925371	0.97[AFR][1000 genomes]
rs9925712	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926077	0.97[AFR][1000 genomes]
rs9927004	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928788	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930271	1.00[AMR][1000 genomes]
rs9930573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930588	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933587	1.00[AMR][1000 genomes]
rs9934778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935867	0.93[AFR][1000 genomes];1.00[AMR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71661800-71682000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:71662600-71682000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:71663600-71686600	Weak transcription	Small Intestine	intestine
4	chr16:71663800-71680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:71663800-71681400	Weak transcription	Left Ventricle	heart
6	chr16:71663800-71681400	Weak transcription	HepG2	liver
7	chr16:71664600-71682800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:71665200-71682800	Weak transcription	HMEC	breast
9	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:71668200-71681800	Weak transcription	Spleen	Spleen
11	chr16:71669600-71681400	Weak transcription	Brain Angular Gyrus	brain
12	chr16:71669600-71681600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:71670000-71679200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:71670000-71682600	Weak transcription	Brain Substantia Nigra	brain
15	chr16:71670200-71682000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:71670400-71681400	Weak transcription	Fetal Muscle Leg	muscle
17	chr16:71670800-71681800	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:71671200-71683200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:71671600-71686400	Weak transcription	Fetal Heart	heart
20	chr16:71671800-71682200	Weak transcription	Right Ventricle	heart
21	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
22	chr16:71672000-71679000	Weak transcription	HSMM	muscle
23	chr16:71672000-71681200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:71672000-71681400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr16:71672000-71681600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:71672000-71682600	Weak transcription	NHLF	lung
27	chr16:71672000-71682800	Weak transcription	NH-A	brain
28	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr16:71672200-71678800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:71672200-71681200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:71672200-71681400	Weak transcription	NHDF-Ad	bronchial
32	chr16:71672200-71681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:71672200-71682600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:71672200-71682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:71672400-71681200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr16:71672400-71682200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:71672400-71682800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr16:71672400-71686400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr16:71673000-71681400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:71673400-71682800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:71674600-71681400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:71674600-71681400	Weak transcription	NHEK	skin
43	chr16:71674600-71682000	Weak transcription	Liver	Liver
44	chr16:71674800-71679200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr16:71674800-71681000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:71674800-71681200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr16:71674800-71681400	Weak transcription	Brain Anterior Caudate	brain
48	chr16:71674800-71681800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:71674800-71682200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:71674800-71682800	Weak transcription	Gastric	stomach

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