Variant report

Variant	rs57678445
Chromosome Location	chr16:72823895-72823896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:72823074-72824187	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr16:72823833-72824213	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:72823662-72824199	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:72823157-72824348	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr16:72823603-72824250	H1-neurons	neurons:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72819845..72821721-chr16:72823266..72826077,2	K562	blood:
2	chr16:72818864..72821721-chr16:72823790..72826077,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHX38-5	chr16:72823142-72825522	ENSG00000259901.1

No data

Variant related genes	Relation type
ENSG00000265573	TF binding region
ENSG00000265573	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16971300	0.91[AFR][1000 genomes]
rs7193349	0.84[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	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72820400-72827600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:72821600-72825800	Weak transcription	Hela-S3	cervix
3	chr16:72821600-72835800	Strong transcription	Liver	Liver
4	chr16:72821600-72842800	Strong transcription	HepG2	liver
5	chr16:72821800-72828600	Strong transcription	Dnd41	blood
6	chr16:72821800-72835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:72822000-72824200	Genic enhancers	Right Ventricle	heart
8	chr16:72822000-72827000	Weak transcription	Aorta	Aorta
9	chr16:72822000-72827800	Weak transcription	GM12878-XiMat	blood
10	chr16:72822000-72830000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:72822000-72831600	Weak transcription	Psoas Muscle	Psoas
12	chr16:72822000-72847000	Weak transcription	Small Intestine	intestine
13	chr16:72822200-72824200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:72822200-72824400	Strong transcription	Fetal Intestine Small	intestine
15	chr16:72822200-72827000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:72822200-72827200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:72822200-72831800	Weak transcription	Fetal Kidney	kidney
18	chr16:72822200-72835800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:72822200-72836400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
21	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:72822400-72824000	Weak transcription	Colon Smooth Muscle	Colon
23	chr16:72822400-72825200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr16:72822400-72826200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:72822400-72827000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:72822400-72827200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr16:72822400-72830600	Weak transcription	Fetal Heart	heart
28	chr16:72822400-72831800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:72822400-72832600	Weak transcription	HUVEC	blood vessel
30	chr16:72822400-72832800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:72822400-72834200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:72822400-72844600	Weak transcription	NHDF-Ad	bronchial
33	chr16:72822600-72824200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr16:72822600-72824200	Weak transcription	Osteobl	bone
35	chr16:72822600-72825200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:72822600-72827000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:72822600-72827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:72822600-72827000	Weak transcription	Fetal Brain Female	brain
39	chr16:72822600-72827000	Weak transcription	Left Ventricle	heart
40	chr16:72822600-72827000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr16:72822600-72828200	Weak transcription	NHEK	skin
42	chr16:72822600-72829400	Weak transcription	Colonic Mucosa	Colon
43	chr16:72822600-72830800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr16:72822600-72831000	Strong transcription	Fetal Stomach	stomach
45	chr16:72822600-72831200	Weak transcription	Right Atrium	heart
46	chr16:72822600-72832200	Weak transcription	Primary B cells from cord blood	blood
47	chr16:72822600-72833200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:72822800-72824000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:72822800-72824000	Weak transcription	HSMM	muscle
50	chr16:72822800-72825400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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