Variant report

Variant	rs11862987
Chromosome Location	chr16:77247504-77247505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75678870..75681636-chr16:77246511..77249219,2	MCF-7	breast:
2	chr16:77240069..77243050-chr16:77247110..77249798,2	MCF-7	breast:
3	chr16:77246630..77248536-chr16:77252040..77254720,2	K562	blood:
4	chr16:77223923..77226639-chr16:77244818..77248823,8	K562	blood:
5	chr16:77247036..77249452-chr16:77252040..77253583,2	K562	blood:

Variant related genes	Relation type
ENSG00000065427	Chromatin interaction
ENSG00000103111	Chromatin interaction
ENSG00000226348	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12446458	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12449219	0.80[EUR][1000 genomes]
rs72798551	0.81[EUR][1000 genomes]
rs72800017	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72800022	0.83[ASN][1000 genomes]
rs72800028	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72800029	0.83[ASN][1000 genomes]
rs9924848	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77245800-77247800	Flanking Active TSS	Right Ventricle	heart
2	chr16:77246600-77247800	Flanking Active TSS	NH-A	brain
3	chr16:77246800-77247600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:77246800-77247800	Flanking Active TSS	HMEC	breast
5	chr16:77247000-77247600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr16:77247000-77247600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr16:77247000-77247600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:77247000-77247600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:77247000-77247800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:77247000-77247800	Enhancers	Gastric	stomach
11	chr16:77247000-77247800	Enhancers	Lung	lung
12	chr16:77247000-77248200	Enhancers	Fetal Heart	heart
13	chr16:77247000-77248400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:77247000-77248400	Enhancers	Left Ventricle	heart
15	chr16:77247000-77248600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:77247000-77248600	Bivalent Enhancer	NHDF-Ad	bronchial
17	chr16:77247000-77248800	Enhancers	Spleen	Spleen
18	chr16:77247200-77247600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr16:77247200-77247600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr16:77247200-77247600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr16:77247200-77247600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr16:77247200-77247600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:77247200-77247600	Enhancers	Primary B cells from peripheral blood	blood
24	chr16:77247200-77247600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr16:77247200-77247600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr16:77247200-77247600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr16:77247200-77247600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr16:77247200-77247600	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr16:77247200-77247600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr16:77247200-77247600	Bivalent Enhancer	Fetal Stomach	stomach
31	chr16:77247200-77247600	Enhancers	Ovary	ovary
32	chr16:77247200-77247600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr16:77247200-77247800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:77247200-77247800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:77247200-77247800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:77247200-77247800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:77247200-77247800	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr16:77247200-77247800	Enhancers	Esophagus	oesophagus
39	chr16:77247200-77247800	Enhancers	Fetal Muscle Leg	muscle
40	chr16:77247200-77247800	Enhancers	Pancreas	Pancrea
41	chr16:77247200-77247800	Flanking Active TSS	A549	lung
42	chr16:77247200-77247800	Flanking Active TSS	HSMM	muscle
43	chr16:77247200-77247800	Flanking Active TSS	NHEK	skin
44	chr16:77247200-77248000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr16:77247200-77248000	Enhancers	Fetal Brain Female	brain
46	chr16:77247200-77248400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:77247200-77248400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:77247200-77248400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:77247200-77248400	Enhancers	Brain Anterior Caudate	brain
50	chr16:77247200-77248400	Enhancers	Right Atrium	heart

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