Variant report

Variant	rs764984
Chromosome Location	chr17:16216988-16216989
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr17:16216776-16217326	K562	blood:	n/a	n/a
2	CEBPD	chr17:16216712-16217309	K562	blood:	n/a	n/a
3	GATA2	chr17:16216801-16217155	K562	blood:	n/a	n/a
4	MAX	chr17:16216722-16217149	K562	blood:	n/a	n/a
5	NR2F2	chr17:16216660-16217333	K562	blood:	n/a	n/a
6	GABPA	chr17:16216803-16217132	K562	blood:	n/a	n/a
7	EP300	chr17:16216656-16217262	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:16216719-16217123	HepG2	liver:	n/a	n/a
9	CCNT2	chr17:16216657-16217216	K562	blood:	n/a	n/a
10	POLR2A	chr17:16216798-16217125	K562	blood:	n/a	n/a
11	HDAC2	chr17:16216737-16217114	K562	blood:	n/a	n/a
12	HNF4G	chr17:16216756-16217212	HepG2	liver:	n/a	chr17:16216986-16217001
13	NFIC	chr17:16216686-16217234	HepG2	liver:	n/a	n/a
14	STAT5A	chr17:16216628-16217274	K562	blood:	n/a	n/a
15	ATF1	chr17:16216816-16217217	K562	blood:	n/a	n/a
16	POLR2A	chr17:16216648-16217215	HepG2	liver:	n/a	n/a
17	HDAC2	chr17:16216718-16217182	HepG2	liver:	n/a	n/a
18	POLR2A	chr17:16216639-16217206	HepG2	liver:	n/a	n/a
19	POLR2A	chr17:16216588-16217193	HepG2	liver:	n/a	n/a
20	RCOR1	chr17:16216704-16217225	K562	blood:	n/a	n/a
21	TBP	chr17:16216547-16217236	HepG2	liver:	n/a	n/a
22	CEBPB	chr17:16216802-16217075	HepG2	liver:	n/a	n/a
23	TBL1XR1	chr17:16216622-16217224	K562	blood:	n/a	n/a
24	REST	chr17:16216782-16217100	K562	blood:	n/a	n/a
25	TBP	chr17:16216837-16217066	K562	blood:	n/a	n/a
26	POLR2A	chr17:16216751-16217139	K562	blood:	n/a	n/a
27	MAX	chr17:16216734-16217160	K562	blood:	n/a	n/a
28	NR2F2	chr17:16216712-16217177	K562	blood:	n/a	n/a
29	GATA1	chr17:16216791-16217275	PBDE	blood:	n/a	n/a
30	MAFF	chr17:16216766-16217170	HepG2	liver:	n/a	n/a
31	MYBL2	chr17:16216571-16217227	HepG2	liver:	n/a	n/a
32	MAX	chr17:16216339-16217337	HepG2	liver:	n/a	n/a
33	CUX1	chr17:16216578-16217222	K562	blood:	n/a	n/a
34	POLR2A	chr17:16216986-16217011	K562	blood:	n/a	n/a
35	PML	chr17:16216680-16217220	K562	blood:	n/a	n/a
36	GATA2	chr17:16216718-16217278	K562	blood:	n/a	n/a
37	MXI1	chr17:16216934-16217220	K562	blood:	n/a	n/a
38	PML	chr17:16216664-16217265	K562	blood:	n/a	n/a
39	ZMIZ1	chr17:16216623-16217251	K562	blood:	n/a	n/a
40	FOXA1	chr17:16216749-16217234	HepG2	liver:	n/a	chr17:16216962-16216974
41	POLR2A	chr17:16216673-16217152	K562	blood:	n/a	n/a
42	FOXA1	chr17:16216560-16217217	HepG2	liver:	n/a	chr17:16216962-16216974
43	MYBL2	chr17:16216448-16217268	HepG2	liver:	n/a	n/a
44	MAX	chr17:16216752-16217195	K562	blood:	n/a	n/a
45	GATA2	chr17:16216779-16217190	K562	blood:	n/a	n/a
46	GATA1	chr17:16216708-16217384	K562	blood:	n/a	n/a
47	RFX5	chr17:16216825-16217105	HepG2	liver:	n/a	n/a
48	SP1	chr17:16216593-16217242	HepG2	liver:	n/a	n/a
49	HEY1	chr17:16216549-16217295	HepG2	liver:	n/a	n/a
50	MAZ	chr17:16216702-16217103	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
PIGL	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1005380	1.00[CEU][hapmap]
rs16959544	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs16959547	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2302314	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs60374261	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60918926	0.86[EUR][1000 genomes]
rs6502495	0.82[EUR][1000 genomes]
rs6502496	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7207630	0.82[EUR][1000 genomes]
rs7208681	0.82[EUR][1000 genomes]
rs7209811	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7210068	1.00[EUR][1000 genomes]
rs7210264	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7212326	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7212874	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7215673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217418	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7218342	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219365	0.89[EUR][1000 genomes]
rs7219665	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219795	0.89[ASN][1000 genomes]
rs7219810	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219980	0.89[ASN][1000 genomes]
rs7220699	0.82[EUR][1000 genomes]
rs7223807	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224575	0.89[EUR][1000 genomes]
rs7225813	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7225926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978817	0.89[ASN][1000 genomes]
rs73981464	0.82[EUR][1000 genomes]
rs73981466	0.89[EUR][1000 genomes]
rs73981467	0.89[EUR][1000 genomes]
rs73981471	0.89[EUR][1000 genomes]
rs8065649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068335	1.00[EUR][1000 genomes]
rs8069052	1.00[EUR][1000 genomes]
rs8077949	0.82[EUR][1000 genomes]
rs9674583	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16190600-16229600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr17:16190800-16220800	Weak transcription	Aorta	Aorta
3	chr17:16191400-16218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:16191400-16219400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:16191400-16226000	Weak transcription	HSMMtube	muscle
6	chr17:16191800-16217200	Weak transcription	HSMM	muscle
7	chr17:16192800-16229000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr17:16197800-16230000	Weak transcription	Brain Angular Gyrus	brain
9	chr17:16198400-16220400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:16200800-16228200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:16201000-16232400	Weak transcription	Hela-S3	cervix
12	chr17:16201200-16223200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr17:16201600-16228800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr17:16201600-16246400	Weak transcription	Fetal Brain Male	brain
15	chr17:16201800-16221000	Weak transcription	Colonic Mucosa	Colon
16	chr17:16203600-16228800	Weak transcription	Primary B cells from cord blood	blood
17	chr17:16204000-16219400	Weak transcription	Brain Germinal Matrix	brain
18	chr17:16204200-16220000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:16204200-16228800	Weak transcription	Brain Substantia Nigra	brain
20	chr17:16204600-16226000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:16205400-16228800	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:16205800-16218400	Weak transcription	Right Ventricle	heart
23	chr17:16205800-16220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr17:16205800-16226000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr17:16205800-16228800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:16205800-16228800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr17:16205800-16229000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:16205800-16229000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:16205800-16245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:16206000-16219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:16206000-16219800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr17:16206000-16220400	Weak transcription	NHEK	skin
33	chr17:16206000-16232200	Weak transcription	HMEC	breast
34	chr17:16206000-16245800	Weak transcription	Brain Anterior Caudate	brain
35	chr17:16206000-16246000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr17:16206200-16219800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:16206200-16228800	Weak transcription	Esophagus	oesophagus
38	chr17:16206600-16217000	Weak transcription	Brain Hippocampus Middle	brain
39	chr17:16206800-16218000	Weak transcription	Ovary	ovary
40	chr17:16206800-16219400	Weak transcription	Placenta	Placenta
41	chr17:16207400-16232400	Weak transcription	Right Atrium	heart
42	chr17:16208000-16221000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:16209000-16245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr17:16210800-16219400	Weak transcription	Lung	lung
45	chr17:16210800-16219600	Weak transcription	Osteobl	bone
46	chr17:16211200-16219800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:16214400-16218000	Weak transcription	Fetal Stomach	stomach
48	chr17:16214400-16220400	Weak transcription	Dnd41	blood
49	chr17:16214400-16228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:16214400-16228600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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