Variant report

Variant	rs4888272
Chromosome Location	chr16:74700240-74700241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:74700105-74701535	MCF10A-Er-Src	breast:	n/a	n/a
2	HA-E2F1	chr16:74700150-74701799	MCF-7	breast:	n/a	chr16:74700908-74700917 chr16:74701420-74701427 chr16:74701497-74701507 chr16:74701496-74701505 chr16:74700397-74700407
3	MAX	chr16:74700133-74701799	HepG2	liver:	n/a	chr16:74700459-74700468
4	MAX	chr16:74700180-74701230	HepG2	liver:	n/a	chr16:74700459-74700468
5	POLR2A	chr16:74700061-74701232	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:74700181-74701009	GM12892	blood:	n/a	n/a
7	HCFC1	chr16:74700139-74702469	Hela-S3	cervix:	n/a	n/a
8	HEY1	chr16:74700084-74700986	K562	blood:	n/a	chr16:74700694-74700709
9	POLR2A	chr16:74700113-74701522	GM12878	blood:	n/a	n/a
10	CEBPB	chr16:74700163-74701695	Hela-S3	cervix:	n/a	chr16:74700908-74700916
11	GATA2	chr16:74699779-74700379	K562	blood:	n/a	n/a
12	POLR2A	chr16:74700113-74701706	K562	blood:	n/a	n/a
13	MYC	chr16:74700114-74701332	A549	lung:	n/a	chr16:74700459-74700468
14	MYC	chr16:74700221-74701649	NB4	blood:	n/a	chr16:74700459-74700468
15	MAX	chr16:74700193-74701109	A549	lung:	n/a	chr16:74700459-74700468
16	MXI1	chr16:74700232-74701563	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:74700216-74701714	K562	blood:	n/a	n/a
18	SIN3AK20	chr16:74700177-74701473	MCF-7	breast:	n/a	n/a
19	MAX	chr16:74700232-74701057	MCF-7	breast:	n/a	chr16:74700459-74700468
20	POLR2A	chr16:74700098-74702065	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr16:74700236-74701708	IMR90	lung:	n/a	n/a
22	POLR2A	chr16:74700169-74701063	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr16:74700153-74701009	GM12891	blood:	n/a	n/a
24	POLR2A	chr16:74700227-74701153	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr16:74700191-74702442	IMR90	lung:	n/a	n/a
26	GATA3	chr16:74699763-74701556	MCF-7	breast:	n/a	n/a
27	POLR2A	chr16:74700199-74701011	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr16:74700190-74700962	H1-hESC	embryonic stem cell:	n/a	n/a
29	EP300	chr16:74700149-74701867	K562	blood:	n/a	chr16:74700776-74700783 chr16:74700456-74700472 chr16:74701499-74701508 chr16:74701218-74701232 chr16:74700691-74700707
30	CUX1	chr16:74700186-74700378	K562	blood:	n/a	n/a
31	CEBPD	chr16:74699786-74700994	K562	blood:	n/a	n/a
32	POLR2A	chr16:74700192-74701831	PBDE	blood:	n/a	n/a
33	TAF7	chr16:74700233-74700982	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr16:74700229-74701714	K562	blood:	n/a	n/a
35	E2F4	chr16:74700059-74701976	MCF10A-Er-Src	breast:	n/a	chr16:74700397-74700407 chr16:74701420-74701427 chr16:74700792-74700803 chr16:74700908-74700917 chr16:74701496-74701505 chr16:74701497-74701507
36	ELF1	chr16:74700226-74701075	GM12878	blood:	n/a	chr16:74700774-74700787
37	POLR2A	chr16:74700193-74701039	HL-60	blood:	n/a	n/a
38	TAF1	chr16:74700212-74701133	K562	blood:	n/a	n/a
39	POLR2A	chr16:74700098-74701682	U87	brain:	n/a	n/a
40	GATA1	chr16:74699619-74701898	PBDE	blood:	n/a	n/a
41	CHD1	chr16:74699889-74701786	IMR90	lung:	n/a	n/a
42	POLR2A	chr16:74700168-74701971	Hela-S3	cervix:	n/a	n/a
43	HMGN3	chr16:74700229-74700936	K562	blood:	n/a	n/a
44	SIN3A	chr16:74700205-74701581	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZC3H11A	chr16:74699955-74700259	K562	blood:	n/a	n/a
46	POLR2A	chr16:74700172-74701657	GM12892	blood:	n/a	n/a
47	POLR2A	chr16:74698651-74702053	Hela-S3	cervix:	n/a	n/a
48	MTA3	chr16:74700123-74701369	GM12878	blood:	n/a	n/a
49	POLR2A	chr16:74700090-74701026	HL-60	blood:	n/a	n/a
50	TCF12	chr16:74700153-74701206	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:74699432..74702199-chr16:74708943..74711933,3	MCF-7	breast:
2	chr16:74640131..74642133-chr16:74699118..74701416,2	MCF-7	breast:
3	chr16:74698718..74701799-chr16:74732753..74735845,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262904	TF binding region
ENSG00000090863	Chromatin interaction
ENSG00000168404	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11149758	0.81[EUR][1000 genomes]
rs11640231	0.81[EUR][1000 genomes]
rs12600208	0.81[EUR][1000 genomes]
rs2078330	1.00[CEU][hapmap]
rs4887778	0.82[CEU][hapmap]
rs4887781	0.82[EUR][1000 genomes]
rs62051923	0.81[EUR][1000 genomes]
rs62051924	0.81[EUR][1000 genomes]
rs8047350	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs8061670	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	esv275138	chr16:74647795-74722907	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv2760414	chr16:74647795-74741615	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
8	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
9	nsv906906	chr16:74664743-74805668	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv572975	chr16:74677312-74702254	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74692800-74700400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr16:74699200-74701600	Active TSS	GM12878-XiMat	blood
3	chr16:74699400-74701400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:74699400-74701400	Active TSS	NHEK	skin
5	chr16:74699400-74701800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:74699400-74701800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:74699400-74702000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr16:74699400-74702000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr16:74699600-74700400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr16:74699600-74700400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:74699600-74701200	Active TSS	Fetal Thymus	thymus
12	chr16:74699600-74701400	Active TSS	A549	lung
13	chr16:74699600-74701400	Active TSS	HMEC	breast
14	chr16:74699600-74701400	Active TSS	NH-A	brain
15	chr16:74699600-74701600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr16:74699600-74701600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr16:74699600-74701600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:74699600-74701600	Active TSS	Hela-S3	cervix
19	chr16:74699600-74701600	Active TSS	NHLF	lung
20	chr16:74699600-74701800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:74699600-74701800	Active TSS	Fetal Brain Female	brain
22	chr16:74699600-74701800	Active TSS	HSMM	muscle
23	chr16:74699600-74702000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr16:74699600-74702000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:74699600-74702000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:74699600-74702200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr16:74699800-74700400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr16:74699800-74700400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:74699800-74700400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:74699800-74700400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr16:74699800-74700400	Flanking Active TSS	Liver	Liver
32	chr16:74699800-74700400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr16:74699800-74700400	Flanking Active TSS	Osteobl	bone
34	chr16:74699800-74700600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr16:74699800-74700800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:74699800-74701200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:74699800-74701400	Active TSS	Muscle Satellite Cultured Cells	--
38	chr16:74699800-74701600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr16:74699800-74701600	Active TSS	Primary T cells from cord blood	blood
40	chr16:74699800-74701600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:74699800-74701600	Active TSS	Esophagus	oesophagus
42	chr16:74699800-74701600	Active TSS	Fetal Kidney	kidney
43	chr16:74699800-74701600	Active TSS	K562	blood
44	chr16:74699800-74701800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr16:74699800-74701800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:74699800-74701800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:74699800-74701800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:74699800-74701800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:74699800-74701800	Active TSS	Colonic Mucosa	Colon
50	chr16:74699800-74701800	Active TSS	Fetal Intestine Large	intestine

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