Variant report

Variant	rs4405566
Chromosome Location	chr16:30953174-30953175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:30953163-30953769	K562	blood:	n/a	chr16:30953664-30953677
2	RAD21	chr16:30952930-30953793	HCT-116	colon:	n/a	n/a
3	FOXM1	chr16:30953168-30953604	GM12878	blood:	n/a	n/a
4	USF1	chr16:30952925-30953336	SK-N-SH_RA	brain:	n/a	chr16:30953134-30953145
5	POLR2A	chr16:30953005-30953730	K562	blood:	n/a	n/a
6	RAD21	chr16:30953059-30953687	A549	lung:	n/a	n/a
7	CTCF	chr16:30953070-30953188	GM12891	blood:	n/a	n/a
8	CTCF	chr16:30953162-30953638	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr16:30952972-30953691	HL-60	blood:	n/a	n/a
10	SMC3	chr16:30952972-30953807	SK-N-SH	brain:	n/a	n/a
11	MAX	chr16:30953002-30953647	NB4	blood:	n/a	n/a
12	USF1	chr16:30953012-30953244	SK-N-SH_RA	brain:	n/a	chr16:30953134-30953145
13	CTCF	chr16:30953155-30953638	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:30953158-30953497	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF1	chr16:30952961-30953394	H1-hESC	embryonic stem cell:	n/a	chr16:30953134-30953145
16	ELF1	chr16:30952894-30953873	GM12878	blood:	n/a	n/a
17	USF1	chr16:30952986-30953209	GM12878	blood:	n/a	chr16:30953134-30953145
18	MAZ	chr16:30953162-30953655	K562	blood:	n/a	n/a
19	RUNX3	chr16:30952990-30953763	GM12878	blood:	n/a	n/a
20	CBX3	chr16:30953111-30953724	K562	blood:	n/a	n/a
21	CTCF	chr16:30953134-30953652	MCF-7	breast:	n/a	n/a
22	KAP1	chr16:30953093-30953503	HEK293	kidney:	n/a	n/a
23	USF1	chr16:30952970-30953569	K562	blood:	n/a	chr16:30953134-30953145
24	RAD21	chr16:30953140-30953694	MCF-7	breast:	n/a	n/a
25	MAX	chr16:30952973-30953785	K562	blood:	n/a	n/a
26	USF1	chr16:30952990-30953278	HepG2	liver:	n/a	chr16:30953134-30953145
27	CTCF	chr16:30952927-30953856	A549	lung:	n/a	chr16:30953664-30953677
28	USF2	chr16:30953040-30953519	GM12878	blood:	n/a	chr16:30953134-30953145
29	HCFC1	chr16:30952994-30953797	Hela-S3	cervix:	n/a	n/a
30	MTA3	chr16:30952991-30953758	GM12878	blood:	n/a	n/a
31	RAD21	chr16:30953050-30953747	MCF-7	breast:	n/a	n/a
32	USF1	chr16:30953006-30953192	HepG2	liver:	n/a	chr16:30953134-30953145
33	PML	chr16:30952952-30953695	GM12878	blood:	n/a	n/a
34	CTCF	chr16:30953090-30953631	K562	blood:	n/a	n/a
35	GTF2F1	chr16:30953154-30953656	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3A	chr16:30953043-30953583	H1-hESC	embryonic stem cell:	n/a	n/a
37	USF2	chr16:30953004-30953273	HepG2	liver:	n/a	chr16:30953134-30953145
38	TCF12	chr16:30953064-30953702	A549	lung:	n/a	n/a
39	RAD21	chr16:30953083-30953704	ECC-1	luminal epithelium:	n/a	n/a
40	MYBL2	chr16:30953010-30953754	HepG2	liver:	n/a	n/a
41	CTCF	chr16:30953065-30953624	GM19240	blood:	n/a	n/a
42	CTCF	chr16:30953126-30953539	A549	lung:	n/a	n/a
43	USF1	chr16:30952907-30953570	H1-hESC	embryonic stem cell:	n/a	chr16:30953134-30953145
44	RAD21	chr16:30953139-30953697	A549	lung:	n/a	n/a
45	RAD21	chr16:30953077-30953708	H1-hESC	embryonic stem cell:	n/a	n/a
46	USF2	chr16:30952987-30953501	H1-hESC	embryonic stem cell:	n/a	chr16:30953134-30953145
47	USF2	chr16:30952992-30953519	Hela-S3	cervix:	n/a	chr16:30953134-30953145
48	JUN	chr16:30952795-30954035	K562	blood:	n/a	chr16:30953932-30953939 chr16:30953927-30953939 chr16:30953930-30953941 chr16:30953929-30953937
49	POLR2A	chr16:30953017-30953818	GM12878	blood:	n/a	n/a
50	KAP1	chr16:30952984-30953455	U2OS	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:30949285..30950813-chr16:30951543..30953681,2	MCF-7	breast:
2	chr16:30932570..30935399-chr16:30951570..30953747,3	MCF-7	breast:
3	chr16:30944040..30946636-chr16:30950248..30953294,3	MCF-7	breast:
4	chr16:30785880..30788115-chr16:30951936..30953609,2	K562	blood:
5	chr16:30933307..30935477-chr16:30950285..30953255,3	K562	blood:
6	chr16:30937201..30939265-chr16:30951650..30953553,2	K562	blood:
7	chr16:30946645..30949568-chr16:30950712..30953448,2	MCF-7	breast:
8	chr16:30885110..30887739-chr16:30951914..30954479,2	MCF-7	breast:
9	chr16:30952173..30954212-chr16:31190131..31192878,2	MCF-7	breast:
10	chr16:30951026..30955016-chr16:30956656..30961515,9	MCF-7	breast:
11	chr16:30931099..30935683-chr16:30951173..30955369,5	MCF-7	breast:
12	chr16:30932667..30934937-chr16:30952381..30954780,2	K562	blood:
13	chr16:30770928..30773513-chr16:30952878..30954380,2	K562	blood:
14	chr16:30945199..30947042-chr16:30951080..30953694,2	K562	blood:
15	chr16:30757305..30759426-chr16:30951863..30953472,2	MCF-7	breast:
16	chr16:30951689..30954966-chr16:30957894..30961243,5	MCF-7	breast:
17	chr16:30952502..30953482-chr16:30968748..30969670,2	MCF-7	breast:
18	chr16:30952078..30954988-chr16:30967257..30969018,2	MCF-7	breast:
19	chr16:30668996..30671162-chr16:30951713..30953470,2	K562	blood:
20	chr16:30951150..30953261-chr16:31724418..31726544,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBXL19	TF binding region
ENSG00000099381	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000103549	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12102485	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13333418	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1870292	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28572417	1.00[EUR][1000 genomes]
rs34212827	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184263	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526635	1.00[EUR][1000 genomes]
rs73526645	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048593	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050229	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8055067	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8061920	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8062731	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9788865	1.00[JPT][hapmap]
rs9929927	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940894	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription 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 miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
6	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
7	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
8	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
9	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
10	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
11	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
12	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
13	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
14	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription 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	95 gene(s)	inside rSNPs	diseases
15	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
16	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
17	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
18	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30936000-30953400	Weak transcription	Right Atrium	heart
2	chr16:30936400-30955200	Weak transcription	Fetal Kidney	kidney
3	chr16:30936400-30955800	Weak transcription	Small Intestine	intestine
4	chr16:30937600-30958600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:30939400-30958800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:30939600-30959000	Strong transcription	Brain Germinal Matrix	brain
7	chr16:30942400-30953200	Weak transcription	Colonic Mucosa	Colon
8	chr16:30942400-30959600	Weak transcription	Psoas Muscle	Psoas
9	chr16:30943800-30955000	Weak transcription	Fetal Brain Male	brain
10	chr16:30944000-30953200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:30944000-30953400	Weak transcription	Liver	Liver
12	chr16:30944200-30953200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:30944200-30955600	Weak transcription	Aorta	Aorta
14	chr16:30944400-30953400	Weak transcription	Left Ventricle	heart
15	chr16:30944400-30955000	Weak transcription	Primary T cells from cord blood	blood
16	chr16:30947000-30953200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr16:30947600-30953200	Weak transcription	Pancreas	Pancrea
18	chr16:30947800-30953200	Weak transcription	Thymus	Thymus
19	chr16:30947800-30959400	Weak transcription	Ovary	ovary
20	chr16:30948800-30953400	Weak transcription	Lung	lung
21	chr16:30949000-30953200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:30949200-30953200	Weak transcription	Right Ventricle	heart
23	chr16:30949200-30953200	Weak transcription	Spleen	Spleen
24	chr16:30949200-30953400	Weak transcription	Fetal Lung	lung
25	chr16:30949200-30953400	Weak transcription	Gastric	stomach
26	chr16:30949200-30953800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr16:30949400-30953200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:30949600-30953400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:30949600-30953400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr16:30949600-30953600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:30949600-30959000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr16:30949800-30953600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:30950000-30953200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr16:30950800-30956200	Strong transcription	Fetal Brain Female	brain
35	chr16:30950800-30956800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:30951000-30953200	Strong transcription	Placenta	Placenta
37	chr16:30951000-30953600	Enhancers	HMEC	breast
38	chr16:30951000-30953800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:30951600-30953200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr16:30951600-30953800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:30951600-30959800	Strong transcription	Dnd41	blood
42	chr16:30951800-30953200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:30951800-30953400	Enhancers	HSMMtube	muscle
44	chr16:30951800-30953400	Strong transcription	HUVEC	blood vessel
45	chr16:30951800-30953600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:30951800-30956600	Strong transcription	HSMM	muscle
47	chr16:30952000-30953200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr16:30952000-30953600	Weak transcription	NH-A	brain
49	chr16:30952000-30958400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:30952200-30954400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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