Variant report

Variant	rs72820985
Chromosome Location	chr16:80838978-80838979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:80837961-80839275	Hela-S3	cervix:	n/a	n/a
2	TCF7L2	chr16:80838589-80838990	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr16:80838545-80839272	Hela-S3	cervix:	n/a	n/a
4	ZNF263	chr16:80838701-80839343	HEK293-T-REx	kidney:	n/a	chr16:80838901-80838910
5	POLR2A	chr16:80837674-80839442	Hela-S3	cervix:	n/a	n/a
6	SMC3	chr16:80838048-80839047	Hela-S3	cervix:	n/a	n/a
7	TFAP2C	chr16:80838396-80839082	Hela-S3	cervix:	n/a	n/a
8	ZBTB7A	chr16:80838717-80839016	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr16:80837975-80839299	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr16:80835765-80839771	Hela-S3	cervix:	n/a	n/a
11	GTF2F1	chr16:80838895-80839260	Hela-S3	cervix:	n/a	n/a
12	SMARCB1	chr16:80836517-80839241	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr16:80837705-80839001	HUVEC	blood vessel:	n/a	n/a
14	MAZ	chr16:80838141-80839093	Hela-S3	cervix:	n/a	chr16:80838861-80838871
15	POLR2A	chr16:80837973-80839060	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80836730..80839628-chr16:80867393..80871297,3	MCF-7	breast:
2	chr16:80838427..80840322-chr16:80885425..80887354,2	MCF-7	breast:

Variant related genes	Relation type
CDYL2	TF binding region
ENSG00000260896	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11150315	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11150316	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11643914	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12443565	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12444243	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12444274	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12446476	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1544804	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1547990	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34450250	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34502201	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34638446	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35690046	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6564792	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74030456	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74030461	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74030462	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74030463	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74030464	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74030466	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74030467	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8052178	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8053834	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8053858	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8058727	0.80[EUR][1000 genomes];0.87[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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv457560	chr16:80825206-80858143	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv573302	chr16:80825206-80858143	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3376994	chr16:80836476-80839824	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3439821	chr16:80836901-80839624	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv3420456	chr16:80837001-80839399	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80836600-80839000	Active TSS	HSMM	muscle
2	chr16:80836800-80839000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:80836800-80839000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
4	chr16:80837000-80839000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr16:80837000-80839000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:80837000-80839000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr16:80837000-80839000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:80837000-80839000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:80837000-80839000	Active TSS	Brain Anterior Caudate	brain
10	chr16:80837000-80839200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:80837000-80839200	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr16:80837000-80839200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr16:80837000-80839200	Active TSS	Rectal Smooth Muscle	rectum
14	chr16:80837000-80839200	Active TSS	Osteobl	bone
15	chr16:80837200-80839000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr16:80837200-80839000	Active TSS	Colonic Mucosa	Colon
17	chr16:80837200-80839000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr16:80837200-80839000	Active TSS	HSMMtube	muscle
19	chr16:80837200-80839200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:80837200-80839200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:80837200-80839200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:80837400-80839000	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr16:80837400-80839200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:80837400-80839200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr16:80837400-80839200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr16:80837600-80839000	Active TSS	Aorta	Aorta
27	chr16:80837600-80839000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr16:80837600-80839000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr16:80837600-80839000	Active TSS	Esophagus	oesophagus
30	chr16:80837600-80839000	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr16:80837600-80839000	Active TSS	Small Intestine	intestine
32	chr16:80837600-80839000	Bivalent/Poised TSS	A549	lung
33	chr16:80837600-80839200	Active TSS	NHLF	lung
34	chr16:80838200-80840400	Weak transcription	NHDF-Ad	bronchial
35	chr16:80838600-80839000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr16:80838600-80839000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:80838600-80839000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:80838600-80839000	Flanking Active TSS	Lung	lung
39	chr16:80838600-80839000	Flanking Active TSS	Right Ventricle	heart
40	chr16:80838600-80839200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr16:80838600-80839200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr16:80838600-80839200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr16:80838600-80839200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:80838800-80839000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:80838800-80839000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr16:80838800-80839000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:80838800-80839000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:80838800-80839000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:80838800-80839000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
50	chr16:80838800-80839000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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