Variant report

Variant	rs3087608
Chromosome Location	chr16:72825114-72825115
allele	G/T
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	chr16:72824670-72825142	Hela-S3	cervix:	n/a	n/a
2	IRF3	chr16:72825105-72825132	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:72824820-72825225	H1-neurons	neurons:	n/a	n/a

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:

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

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16971138	1.00[CEU][hapmap]
rs56394277	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7202635	1.00[CEU][hapmap]
rs72791108	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72791109	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72793296	1.00[AMR][1000 genomes]
rs8050315	1.00[CEU][hapmap]
rs9927487	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs9939154	1.00[CEU][hapmap]

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	chr16:72822000-72827000	Weak transcription	Aorta	Aorta
8	chr16:72822000-72827800	Weak transcription	GM12878-XiMat	blood
9	chr16:72822000-72830000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:72822000-72831600	Weak transcription	Psoas Muscle	Psoas
11	chr16:72822000-72847000	Weak transcription	Small Intestine	intestine
12	chr16:72822200-72827000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr16:72822200-72827200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr16:72822200-72831800	Weak transcription	Fetal Kidney	kidney
15	chr16:72822200-72835800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:72822200-72836400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
18	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr16:72822400-72825200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:72822400-72826200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:72822400-72827000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr16:72822400-72827200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:72822400-72830600	Weak transcription	Fetal Heart	heart
24	chr16:72822400-72831800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:72822400-72832600	Weak transcription	HUVEC	blood vessel
26	chr16:72822400-72832800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:72822400-72834200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:72822400-72844600	Weak transcription	NHDF-Ad	bronchial
29	chr16:72822600-72825200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:72822600-72827000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:72822600-72827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:72822600-72827000	Weak transcription	Fetal Brain Female	brain
33	chr16:72822600-72827000	Weak transcription	Left Ventricle	heart
34	chr16:72822600-72827000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:72822600-72828200	Weak transcription	NHEK	skin
36	chr16:72822600-72829400	Weak transcription	Colonic Mucosa	Colon
37	chr16:72822600-72830800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr16:72822600-72831000	Strong transcription	Fetal Stomach	stomach
39	chr16:72822600-72831200	Weak transcription	Right Atrium	heart
40	chr16:72822600-72832200	Weak transcription	Primary B cells from cord blood	blood
41	chr16:72822600-72833200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:72822800-72825400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:72822800-72825400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:72822800-72825600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:72822800-72827200	Weak transcription	Gastric	stomach
46	chr16:72822800-72827800	Weak transcription	Brain Germinal Matrix	brain
47	chr16:72822800-72830600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:72822800-72831000	Weak transcription	HMEC	breast
49	chr16:72822800-72831400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:72822800-72834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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