Variant report

Variant	rs74015013
Chromosome Location	chr16:30584802-30584803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr16:30584599-30585036	K562	blood:	n/a	n/a
2	POLR2A	chr16:30584565-30585034	K562	blood:	n/a	n/a
3	GATA2	chr16:30584647-30585020	K562	blood:	n/a	chr16:30584681-30584691
4	TEAD4	chr16:30584583-30585078	K562	blood:	n/a	n/a
5	POLR2A	chr16:30584589-30585040	K562	blood:	n/a	n/a
6	POLR2A	chr16:30584802-30584968	MCF-7	breast:	n/a	n/a
7	GATA1	chr16:30584616-30585127	PBDE	blood:	n/a	chr16:30584681-30584691
8	TRIM28	chr16:30584567-30585091	K562	blood:	n/a	n/a
9	ARID3A	chr16:30584700-30585342	K562	blood:	n/a	n/a
10	UBTF	chr16:30584735-30585033	K562	blood:	n/a	n/a
11	CEBPB	chr16:30584695-30585002	K562	blood:	n/a	n/a
12	POLR2A	chr16:30584689-30584913	HUVEC	blood vessel:	n/a	n/a
13	RCOR1	chr16:30584751-30584849	K562	blood:	n/a	n/a
14	TAL1	chr16:30584641-30585080	K562	blood:	n/a	n/a
15	POLR2A	chr16:30584627-30584997	K562	blood:	n/a	n/a
16	CBX3	chr16:30584525-30585050	K562	blood:	n/a	n/a
17	EGR1	chr16:30584654-30584965	K562	blood:	n/a	n/a
18	MAX	chr16:30584680-30584995	K562	blood:	n/a	n/a
19	EP300	chr16:30584647-30585034	K562	blood:	n/a	n/a
20	RCOR1	chr16:30584651-30585003	K562	blood:	n/a	n/a
21	ETS1	chr16:30584748-30584962	K562	blood:	n/a	n/a
22	YY1	chr16:30584605-30584832	K562	blood:	n/a	n/a
23	POLR2A	chr16:30584673-30584948	K562	blood:	n/a	n/a
24	POLR2A	chr16:30584726-30584941	Hela-S3	cervix:	n/a	n/a
25	UBTF	chr16:30584540-30584896	K562	blood:	n/a	n/a
26	MAX	chr16:30584759-30584943	K562	blood:	n/a	n/a
27	GATA2	chr16:30584595-30585069	K562	blood:	n/a	chr16:30584681-30584691
28	GABPA	chr16:30584712-30584969	K562	blood:	n/a	n/a
29	IRF1	chr16:30584707-30585134	K562	blood:	n/a	n/a
30	TBP	chr16:30584700-30584966	K562	blood:	n/a	n/a
31	TBL1XR1	chr16:30584673-30585004	K562	blood:	n/a	n/a
32	MXI1	chr16:30584704-30584956	K562	blood:	n/a	n/a
33	POLR2A	chr16:30584698-30585006	K562	blood:	n/a	n/a
34	REST	chr16:30584622-30584973	K562	blood:	n/a	n/a
35	POLR2A	chr16:30584602-30584993	K562	blood:	n/a	n/a
36	HDAC2	chr16:30584729-30585007	K562	blood:	n/a	n/a
37	CUX1	chr16:30584706-30585137	K562	blood:	n/a	n/a
38	CEBPB	chr16:30584615-30585015	K562	blood:	n/a	n/a
39	EP300	chr16:30584715-30585041	K562	blood:	n/a	n/a
40	NR2F2	chr16:30584657-30585050	K562	blood:	n/a	n/a
41	STAT5A	chr16:30584598-30585100	K562	blood:	n/a	n/a
42	MAZ	chr16:30584764-30584934	K562	blood:	n/a	n/a
43	ZC3H11A	chr16:30584770-30584932	K562	blood:	n/a	n/a
44	TBL1XR1	chr16:30584697-30585077	K562	blood:	n/a	n/a
45	SMC3	chr16:30584789-30584949	K562	blood:	n/a	n/a
46	JUND	chr16:30584669-30584990	K562	blood:	n/a	n/a
47	MYC	chr16:30584760-30584934	K562	blood:	n/a	n/a
48	MAX	chr16:30584552-30585033	K562	blood:	n/a	n/a
49	GABPA	chr16:30584731-30584936	K562	blood:	n/a	n/a
50	MYC	chr16:30584671-30585011	K562	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30566138..30571776-chr16:30580042..30586389,14	K562	blood:
2	chr16:30345231..30348064-chr16:30583285..30585199,2	MCF-7	breast:
3	chr16:30581816..30584865-chr16:30620426..30623412,3	MCF-7	breast:
4	chr16:30581443..30584852-chr16:30667885..30670811,3	MCF-7	breast:
5	chr16:30580685..30586607-chr16:30594028..30599624,16	MCF-7	breast:
6	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:
7	chr16:30567962..30575227-chr16:30576961..30586002,21	MCF-7	breast:
8	chr16:30536816..30539624-chr16:30583341..30586431,3	K562	blood:
9	chr16:30583091..30585681-chr16:30668404..30671562,3	K562	blood:
10	chr16:30581984..30585990-chr16:30619553..30622837,7	MCF-7	breast:
11	chr16:30454042..30458733-chr16:30581507..30584845,9	MCF-7	breast:
12	chr16:30537304..30542390-chr16:30581808..30586488,7	K562	blood:
13	chr16:30578114..30586052-chr16:30592731..30598818,24	MCF-7	breast:
14	chr16:30583050..30589314-chr16:30592212..30597849,11	K562	blood:
15	chr16:30534593..30542459-chr16:30576363..30586049,22	MCF-7	breast:
16	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
17	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
18	chr16:30567520..30571513-chr16:30580042..30586732,13	K562	blood:
19	chr16:30455559..30458329-chr16:30583217..30585158,2	MCF-7	breast:
20	chr16:30535183..30540797-chr16:30579748..30584975,15	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF688	TF binding region
ENSG00000169955	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000156860	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55764844	1.00[AMR][1000 genomes]
rs55794634	1.00[AMR][1000 genomes]
rs56371701	1.00[AMR][1000 genomes]
rs59324423	1.00[AMR][1000 genomes]
rs59594717	1.00[AMR][1000 genomes]
rs59674151	1.00[AMR][1000 genomes]
rs60628262	1.00[AMR][1000 genomes]
rs60749749	1.00[AMR][1000 genomes]
rs60854012	1.00[AMR][1000 genomes]
rs74015021	1.00[AMR][1000 genomes]
rs74015027	1.00[AMR][1000 genomes]
rs74015028	1.00[AMR][1000 genomes]
rs74015042	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30583800-30585200	Flanking Active TSS	Dnd41	blood
2	chr16:30583800-30585200	Flanking Active TSS	K562	blood
3	chr16:30583800-30588200	Weak transcription	Ovary	ovary
4	chr16:30583800-30590600	Weak transcription	Left Ventricle	heart
5	chr16:30583800-30592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:30583800-30593000	Weak transcription	Aorta	Aorta
7	chr16:30583800-30593000	Weak transcription	Esophagus	oesophagus
8	chr16:30584000-30585000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr16:30584000-30585000	Flanking Active TSS	HepG2	liver
10	chr16:30584000-30586200	Weak transcription	Stomach Mucosa	stomach
11	chr16:30584000-30587200	Weak transcription	Fetal Intestine Small	intestine
12	chr16:30584000-30588000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:30584000-30588200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:30584000-30589400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:30584000-30589400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:30584000-30589400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:30584000-30589400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:30584000-30589600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr16:30584000-30589600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr16:30584000-30589600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:30584000-30589600	Weak transcription	Osteobl	bone
22	chr16:30584000-30589800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:30584000-30589800	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:30584000-30589800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr16:30584000-30590200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:30584000-30590200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:30584000-30590200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:30584000-30590200	Weak transcription	Brain Substantia Nigra	brain
29	chr16:30584000-30590200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr16:30584000-30590400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr16:30584000-30590400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr16:30584000-30590400	Weak transcription	HSMMtube	muscle
33	chr16:30584000-30590600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:30584000-30592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:30584000-30592600	Weak transcription	Lung	lung
36	chr16:30584000-30592800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:30584000-30592800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr16:30584000-30592800	Weak transcription	NHEK	skin
39	chr16:30584000-30593000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:30584000-30593000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr16:30584000-30593000	Weak transcription	Right Ventricle	heart
42	chr16:30584000-30593000	Weak transcription	NHLF	lung
43	chr16:30584000-30593200	Weak transcription	Brain Angular Gyrus	brain
44	chr16:30584000-30593800	Weak transcription	Psoas Muscle	Psoas
45	chr16:30584000-30596000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:30584000-30596000	Weak transcription	Fetal Kidney	kidney
47	chr16:30584000-30596000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr16:30584000-30596000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr16:30584000-30596000	Weak transcription	NHDF-Ad	bronchial
50	chr16:30584000-30596200	Weak transcription	Right Atrium	heart

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