Variant report

Variant	rs8051869
Chromosome Location	chr16:70382438-70382439
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70382352-70382860	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
2	chr16:70321381..70324414-chr16:70379252..70382918,7	MCF-7	breast:
3	chr16:70283970..70285913-chr16:70380669..70382950,2	K562	blood:
4	chr16:70379206..70382816-chr16:70556059..70558953,4	K562	blood:
5	chr16:70379526..70383319-chr16:70470652..70474068,4	K562	blood:
6	chr16:70375788..70377818-chr16:70381402..70383532,2	K562	blood:
7	chr16:70315876..70318226-chr16:70381253..70382948,2	K562	blood:
8	chr16:70380932..70385143-chr16:70404657..70409914,6	MCF-7	breast:
9	chr16:70381202..70383601-chr16:70463470..70465382,2	K562	blood:
10	chr16:70381919..70383634-chr16:70512388..70514213,2	K562	blood:
11	chr16:70378223..70384231-chr16:70413255..70416872,7	MCF-7	breast:
12	chr16:70320111..70324850-chr16:70378173..70382680,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261777	TF binding region
ENSG00000157350	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000223496	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11537667	0.82[AFR][1000 genomes]
rs11859827	0.88[AFR][1000 genomes]
rs11860870	0.91[AFR][1000 genomes]
rs11862053	0.84[AFR][1000 genomes]
rs11864326	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11865564	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11866378	0.86[AFR][1000 genomes]
rs16970141	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970147	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970159	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16970169	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16970361	0.84[AFR][1000 genomes]
rs16970609	0.90[AFR][1000 genomes]
rs17878609	0.81[AMR][1000 genomes]
rs17880268	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17886064	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4999488	0.81[AMR][1000 genomes]
rs55657328	0.84[AFR][1000 genomes]
rs55805938	0.86[AFR][1000 genomes]
rs55936739	0.84[AFR][1000 genomes]
rs56043981	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56090000	0.88[AFR][1000 genomes]
rs56096542	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56217164	0.90[AFR][1000 genomes]
rs56234537	0.90[AFR][1000 genomes]
rs56980444	0.89[AMR][1000 genomes]
rs57150196	0.81[AMR][1000 genomes]
rs57279408	0.90[AFR][1000 genomes]
rs57422630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57623576	0.90[AFR][1000 genomes]
rs58055772	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58131227	0.82[AFR][1000 genomes]
rs58328210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260159	0.81[AMR][1000 genomes]
rs59384897	0.86[AFR][1000 genomes]
rs59791510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59849898	0.82[AFR][1000 genomes]
rs59928915	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60103946	0.82[AFR][1000 genomes]
rs60426209	0.86[AFR][1000 genomes]
rs60523557	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61172065	0.87[AFR][1000 genomes]
rs61266247	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61319691	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61391917	0.90[AFR][1000 genomes]
rs61594809	0.86[AFR][1000 genomes]
rs6499309	0.82[AFR][1000 genomes]
rs6499314	0.81[AMR][1000 genomes]
rs7184248	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185665	0.86[AFR][1000 genomes]
rs7186024	0.86[AFR][1000 genomes]
rs7190921	0.85[AFR][1000 genomes]
rs7195567	0.90[AFR][1000 genomes]
rs7199346	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7203772	0.90[AMR][1000 genomes]
rs7204800	0.88[AFR][1000 genomes]
rs7205871	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205990	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206347	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs74024180	0.84[AFR][1000 genomes]
rs74024184	0.84[AFR][1000 genomes]
rs74024185	0.84[AFR][1000 genomes]
rs74024186	0.86[AFR][1000 genomes]
rs74024187	0.86[AFR][1000 genomes]
rs74024191	0.86[AFR][1000 genomes]
rs74024193	0.89[AFR][1000 genomes]
rs74024196	0.90[AFR][1000 genomes]
rs74024199	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024200	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026022	0.81[AMR][1000 genomes]
rs74026033	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8046253	0.81[AMR][1000 genomes]
rs8046280	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049046	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050252	0.81[AMR][1000 genomes]
rs8053040	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053657	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8056811	0.81[AMR][1000 genomes]
rs8062602	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8063749	0.86[AFR][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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	esv3390669	chr16:70363244-70400179	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70381200-70386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:70381200-70388800	Weak transcription	Spleen	Spleen
3	chr16:70381200-70389200	Weak transcription	Gastric	stomach
4	chr16:70381400-70386600	Weak transcription	Esophagus	oesophagus
5	chr16:70381400-70389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:70381400-70394400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70381600-70382600	Enhancers	Duodenum Mucosa	Duodenum
8	chr16:70381600-70382600	Enhancers	Fetal Muscle Leg	muscle
9	chr16:70381600-70382800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr16:70381600-70382800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:70381600-70382800	Enhancers	Liver	Liver
12	chr16:70381600-70382800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr16:70381600-70383000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr16:70381600-70383200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr16:70381600-70383200	Enhancers	Adipose Nuclei	Adipose
16	chr16:70381600-70383200	Weak transcription	Right Atrium	heart
17	chr16:70381600-70383600	Enhancers	Fetal Heart	heart
18	chr16:70381600-70383800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:70381600-70384000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:70381600-70384400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:70381600-70388600	Weak transcription	Aorta	Aorta
22	chr16:70381600-70388600	Weak transcription	Brain Substantia Nigra	brain
23	chr16:70381600-70389000	Weak transcription	Ovary	ovary
24	chr16:70381600-70389200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:70381600-70392600	Weak transcription	Fetal Kidney	kidney
26	chr16:70381600-70413200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:70381600-70414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:70381800-70382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:70381800-70382800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:70381800-70383000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr16:70381800-70383400	Enhancers	Pancreas	Pancrea
32	chr16:70381800-70383600	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr16:70381800-70383600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr16:70381800-70389000	Weak transcription	HSMMtube	muscle
35	chr16:70382000-70382800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr16:70382000-70383000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:70382000-70383000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:70382000-70383000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr16:70382000-70383000	Weak transcription	Fetal Thymus	thymus
40	chr16:70382000-70383000	Weak transcription	HSMM	muscle
41	chr16:70382000-70383200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr16:70382000-70383200	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:70382000-70383400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:70382000-70384200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:70382000-70387800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:70382000-70388600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr16:70382000-70388800	Weak transcription	Colonic Mucosa	Colon
48	chr16:70382200-70382600	Weak transcription	Brain Germinal Matrix	brain
49	chr16:70382200-70382600	Weak transcription	NHEK	skin
50	chr16:70382200-70382800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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