Variant report

Variant	rs67456613
Chromosome Location	chr16:30888295-30888296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30885955-30888571	HepG2	liver:	n/a	n/a
2	MYBL2	chr16:30885998-30888450	HepG2	liver:	n/a	n/a
3	CTCF	chr16:30888200-30888350	HAc	cerebellar:	n/a	n/a
4	CTCF	chr16:30888206-30888476	H1-hESC	embryonic stem cell:	n/a	chr16:30888420-30888430
5	POLR2A	chr16:30885683-30888588	GM12892	blood:	n/a	n/a
6	CTCF	chr16:30888220-30888370	HRE	kidney:	n/a	n/a
7	CTCF	chr16:30888260-30888410	GM12873	blood:	n/a	n/a
8	CTCF	chr16:30888280-30888430	GM12873	blood:	n/a	chr16:30888420-30888430
9	POLR2A	chr16:30886113-30888536	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr16:30888220-30888370	GM12864	blood:	n/a	n/a
11	CTCF	chr16:30888289-30888523	H1-hESC	embryonic stem cell:	n/a	chr16:30888420-30888430
12	MTA3	chr16:30885594-30888379	GM12878	blood:	n/a	n/a
13	YY1	chr16:30888203-30888497	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr16:30885705-30888727	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr16:30888200-30888350	NHEK	skin:	n/a	n/a
16	POLR2A	chr16:30887912-30888501	K562	blood:	n/a	n/a
17	YY1	chr16:30888165-30888545	HepG2	liver:	n/a	n/a
18	CTCF	chr16:30888240-30888390	GM12867	blood:	n/a	n/a
19	YY1	chr16:30888268-30888426	K562	blood:	n/a	n/a
20	POLR2A	chr16:30885260-30888767	HepG2	liver:	n/a	n/a
21	CTCF	chr16:30888220-30888370	BJ	skin:	n/a	n/a
22	POLR2A	chr16:30888219-30888484	H1-hESC	embryonic stem cell:	n/a	n/a
23	PML	chr16:30885822-30888453	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:30886054-30888503	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:30888255-30888494	HepG2	liver:	n/a	n/a
26	NFIC	chr16:30888041-30888480	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:30888197-30888497	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr16:30885585-30888817	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:30888166-30888483	GM12878	blood:	n/a	n/a
30	HEY1	chr16:30885962-30888536	HepG2	liver:	n/a	n/a
31	TAF1	chr16:30888201-30888503	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr16:30888257-30888486	HepG2	liver:	n/a	n/a
33	CTCF	chr16:30888260-30888410	HEK293	kidney:	n/a	n/a
34	POLR2A	chr16:30885878-30888499	GM12892	blood:	n/a	n/a
35	YY1	chr16:30888086-30888564	HepG2	liver:	n/a	n/a
36	ESRRA	chr16:30885436-30888922	GM12878	blood:	n/a	n/a
37	RAD21	chr16:30888168-30888569	H1-hESC	embryonic stem cell:	n/a	chr16:30888463-30888473
38	POLR2A	chr16:30888224-30888502	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr16:30888122-30888481	HepG2	liver:	n/a	n/a
40	CTCF	chr16:30888240-30888390	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr16:30888280-30888430	HCPEpiC	choroid plexus:	n/a	chr16:30888420-30888430
42	POLR2A	chr16:30888196-30888532	HepG2	liver:	n/a	n/a
43	TAF1	chr16:30888169-30888528	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr16:30888263-30888552	HepG2	liver:	n/a	chr16:30888420-30888430
45	RUNX3	chr16:30885690-30888311	GM12878	blood:	n/a	n/a
46	POLR2A	chr16:30888282-30888308	HUVEC	blood vessel:	n/a	n/a
47	TBP	chr16:30888251-30888505	HepG2	liver:	n/a	n/a
48	POLR2A	chr16:30888268-30888494	GM12878	blood:	n/a	n/a
49	MTA3	chr16:30886319-30888455	GM12878	blood:	n/a	n/a
50	CTCF	chr16:30888280-30888430	HA-sp	spinal cord:	n/a	chr16:30888420-30888430

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:30795079..30800045-chr16:30885501..30888825,9	MCF-7	breast:
2	chr16:30883819..30890392-chr16:30902420..30910068,31	K562	blood:
3	chr16:30757885..30759765-chr16:30885602..30888334,3	MCF-7	breast:
4	chr16:30883282..30888471-chr16:30902396..30910299,26	MCF-7	breast:
5	chr16:30885246..30888347-chr16:30937148..30940794,5	MCF-7	breast:
6	chr16:30886810..30888437-chr16:30936878..30938954,2	MCF-7	breast:
7	chr16:30885239..30889762-chr16:30932057..30936596,5	K562	blood:
8	chr16:30884464..30890146-chr16:30902796..30909297,24	K562	blood:

No data

Variant related genes	Relation type
MIR4519	TF binding region
ENSG00000262721	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000099385	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11150599	0.92[ASN][1000 genomes]
rs11647697	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11862962	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12920259	0.97[ASN][1000 genomes]
rs12926295	0.97[ASN][1000 genomes]
rs12928081	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12929065	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12930944	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1458201	0.81[ASN][1000 genomes]
rs2125293	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2168834	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335013	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2878304	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34840035	0.86[EUR][1000 genomes]
rs4290486	0.97[ASN][1000 genomes]
rs4889534	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889536	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889614	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889622	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889627	0.89[ASN][1000 genomes]
rs4889630	0.92[ASN][1000 genomes]
rs4889634	0.83[ASN][1000 genomes]
rs4889651	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889653	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55719146	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56083427	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67264578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72799330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8050107	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8059475	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8063565	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897984	0.97[ASN][1000 genomes]
rs9796842	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9933843	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30885600-30888400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:30885600-30888400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:30885600-30888400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:30885800-30888400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:30887000-30888400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr16:30887000-30888400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr16:30887000-30888400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr16:30887000-30888400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:30887000-30888400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr16:30887000-30888400	Flanking Active TSS	Osteobl	bone
11	chr16:30887200-30888400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:30887200-30888400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:30887200-30888400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr16:30887200-30888400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr16:30887200-30888400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr16:30887200-30888400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:30887200-30888400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:30887200-30888400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:30887200-30888400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:30887200-30888400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr16:30887200-30888400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:30887200-30888400	Flanking Active TSS	Liver	Liver
23	chr16:30887200-30888400	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr16:30887200-30888400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr16:30887200-30888400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:30887200-30888400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr16:30887200-30888400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
28	chr16:30887200-30888400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr16:30887200-30888400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr16:30887200-30888400	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr16:30887200-30888400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr16:30887200-30888400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr16:30887200-30888400	Flanking Active TSS	K562	blood
34	chr16:30887200-30888400	Flanking Active TSS	NHDF-Ad	bronchial
35	chr16:30887200-30888400	Flanking Active TSS	NHLF	lung
36	chr16:30887200-30888600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:30887200-30888600	Flanking Active TSS	Colonic Mucosa	Colon
38	chr16:30887200-30888600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr16:30887400-30888400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr16:30887400-30888400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:30887400-30888400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:30887400-30888400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:30887400-30888400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr16:30887400-30888400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr16:30887400-30888400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr16:30887400-30888400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr16:30887400-30888400	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr16:30887400-30888400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr16:30887400-30888400	Flanking Active TSS	Fetal Brain Male	brain
50	chr16:30887400-30888400	Flanking Active TSS	Fetal Intestine Large	intestine

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