Variant report

Variant	rs28366846
Chromosome Location	chr15:50718969-50718970
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr15:50718684-50719083	K562	blood:	n/a	chr15:50718891-50718904
2	MAX	chr15:50718653-50719012	K562	blood:	n/a	n/a
3	USF1	chr15:50718672-50719089	K562	blood:	n/a	n/a
4	YY1	chr15:50718617-50719010	K562	blood:	n/a	n/a
5	USF2	chr15:50718675-50718983	K562	blood:	n/a	n/a
6	YY1	chr15:50718682-50718993	K562	blood:	n/a	n/a
7	USF1	chr15:50718667-50719056	K562	blood:	n/a	n/a
8	BHLHE40	chr15:50718581-50719030	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50644978..50654282-chr15:50714279..50723145,48	MCF-7	breast:
2	chr15:50644601..50650486-chr15:50714318..50720349,10	K562	blood:
3	chr15:50644770..50653815-chr15:50713287..50720249,51	MCF-7	breast:
4	chr15:50644809..50652796-chr15:50713240..50720627,20	K562	blood:

No data

Variant related genes	Relation type
USP8	TF binding region
ENSG00000259715	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000264109	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11855202	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11855465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857185	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11857513	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12708422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12708423	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12911550	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12912813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916358	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17696151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17696277	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28377938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28391734	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28441244	1.00[EUR][1000 genomes]
rs28469604	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28495639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28592674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28698226	0.82[ASN][1000 genomes]
rs28836609	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28878825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34269292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3743044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50716200-50719200	Active TSS	GM12878-XiMat	blood
2	chr15:50717000-50726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:50717400-50722600	Weak transcription	Esophagus	oesophagus
4	chr15:50717400-50722600	Weak transcription	Lung	lung
5	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
6	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
8	chr15:50717800-50719000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:50717800-50719000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:50717800-50719000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:50717800-50719000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr15:50717800-50719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:50717800-50719000	Enhancers	Ovary	ovary
14	chr15:50717800-50719000	Enhancers	Right Ventricle	heart
15	chr15:50717800-50719200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr15:50717800-50719600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:50717800-50719600	Enhancers	Brain Angular Gyrus	brain
18	chr15:50717800-50719800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr15:50717800-50721000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:50717800-50723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:50717800-50724200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:50717800-50724200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:50717800-50724600	Weak transcription	NH-A	brain
24	chr15:50717800-50731200	Weak transcription	Fetal Brain Female	brain
25	chr15:50717800-50731200	Weak transcription	Fetal Kidney	kidney
26	chr15:50717800-50731600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:50717800-50731600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:50717800-50732000	Weak transcription	Small Intestine	intestine
29	chr15:50717800-50732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:50717800-50732200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:50717800-50732200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:50717800-50732200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:50717800-50732200	Weak transcription	HSMMtube	muscle
34	chr15:50717800-50732200	Weak transcription	NHLF	lung
35	chr15:50717800-50732400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:50717800-50738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:50718000-50719000	Weak transcription	NHDF-Ad	bronchial
39	chr15:50718000-50719600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr15:50718000-50719600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr15:50718000-50719600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr15:50718000-50719600	Enhancers	Fetal Brain Male	brain
43	chr15:50718000-50720000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:50718000-50721000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:50718000-50722800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr15:50718000-50723200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:50718000-50724200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:50718000-50724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:50718000-50724400	Weak transcription	NHEK	skin
50	chr15:50718000-50731200	Weak transcription	Brain Anterior Caudate	brain

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