Variant report

Variant	rs386791983
Chromosome Location	chr16:72042428-72042429
allele	lengthTooLong
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	MAX	chr16:72042250-72043024	K562	blood:	n/a	chr16:72042855-72042862
2	POU2F2	chr16:72042278-72042505	GM12878	blood:	n/a	n/a
3	SP2	chr16:72042297-72042893	HepG2	liver:	n/a	chr16:72042585-72042594 chr16:72042581-72042596
4	CHD1	chr16:72042352-72042959	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:72042265-72042859	SK-N-SH	brain:	n/a	n/a
6	CHD2	chr16:72042355-72042904	H1-hESC	embryonic stem cell:	n/a	n/a
7	POU2F2	chr16:72042244-72043077	GM12878	blood:	n/a	n/a
8	MAX	chr16:72042287-72042986	K562	blood:	n/a	chr16:72042855-72042862
9	USF1	chr16:72042277-72042694	H1-hESC	embryonic stem cell:	n/a	chr16:72042476-72042497
10	USF1	chr16:72042237-72043120	H1-hESC	embryonic stem cell:	n/a	chr16:72042476-72042497
11	SP1	chr16:72042142-72043007	A549	lung:	n/a	chr16:72042585-72042597 chr16:72042446-72042457 chr16:72042638-72042647
12	SP1	chr16:72042247-72042747	H1-hESC	embryonic stem cell:	n/a	chr16:72042585-72042597 chr16:72042446-72042457 chr16:72042638-72042647
13	CTCF	chr16:72042332-72042485	Kidney_OC	kidney:	n/a	n/a
14	POLR2A	chr16:72042184-72043054	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr16:72042320-72042470	SK-N-SH_RA	brain:	n/a	n/a
16	GABPA	chr16:72042235-72043099	SK-N-SH	brain:	n/a	chr16:72042477-72042491 chr16:72042480-72042489
17	EGR1	chr16:72042305-72042730	K562	blood:	n/a	chr16:72042443-72042457
18	POLR2A	chr16:72042308-72042873	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBL1XR1	chr16:72042375-72042497	K562	blood:	n/a	n/a
20	FOXM1	chr16:72042140-72043035	GM12878	blood:	n/a	n/a
21	TAF1	chr16:72042110-72043143	A549	lung:	n/a	n/a
22	YY1	chr16:72042283-72043075	SK-N-SH	brain:	n/a	chr16:72042931-72042940
23	MAX	chr16:72042153-72043192	MCF-7	breast:	n/a	chr16:72042855-72042862
24	SIN3AK20	chr16:72042183-72043158	MCF-7	breast:	n/a	n/a
25	YY1	chr16:72042392-72043027	HepG2	liver:	n/a	chr16:72042931-72042940
26	CREB1	chr16:72042393-72042867	ECC-1	luminal epithelium:	n/a	n/a
27	MYC	chr16:72042232-72043078	NB4	blood:	n/a	chr16:72042855-72042862
28	TAF1	chr16:72042263-72042899	H1-hESC	embryonic stem cell:	n/a	n/a
29	BHLHE40	chr16:72042210-72043067	HepG2	liver:	n/a	chr16:72042476-72042497
30	IRF1	chr16:72042192-72043033	K562	blood:	n/a	chr16:72042459-72042473 chr16:72042585-72042599
31	PBX3	chr16:72042305-72042894	A549	lung:	n/a	n/a
32	GABPA	chr16:72042135-72043201	HL-60	blood:	n/a	chr16:72042477-72042491 chr16:72042480-72042489
33	TBP	chr16:72042206-72042973	Hela-S3	cervix:	n/a	n/a
34	SP1	chr16:72042199-72042864	K562	blood:	n/a	chr16:72042585-72042597 chr16:72042446-72042457 chr16:72042638-72042647
35	MYC	chr16:72042315-72043053	MCF-7	breast:	n/a	chr16:72042855-72042862
36	USF1	chr16:72042271-72042703	SK-N-SH	brain:	n/a	chr16:72042476-72042497
37	POLR2A	chr16:72042180-72043124	GM12878	blood:	n/a	n/a
38	BHLHE40	chr16:72042235-72043059	K562	blood:	n/a	chr16:72042476-72042497
39	CTCF	chr16:72042331-72042458	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr16:72042300-72042450	HRE	kidney:	n/a	n/a
41	CEBPD	chr16:72042309-72042957	HepG2	liver:	n/a	n/a
42	CTCF	chr16:72042380-72042530	MCF-7	breast:	n/a	n/a
43	POLR2A	chr16:72042240-72042915	K562	blood:	n/a	n/a
44	POLR2A	chr16:72042293-72042957	HepG2	liver:	n/a	n/a
45	CTCF	chr16:72042264-72042471	HepG2	liver:	n/a	n/a
46	UBTF	chr16:72042236-72042979	K562	blood:	n/a	n/a
47	SP2	chr16:72042292-72042923	HepG2	liver:	n/a	chr16:72042585-72042594 chr16:72042581-72042596
48	THAP1	chr16:72042257-72042605	K562	blood:	n/a	n/a
49	ELK1	chr16:72042274-72042880	GM12878	blood:	n/a	n/a
50	POLR2A	chr16:72042253-72043029	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:72042016..72045516-chr16:72126835..72130601,4	K562	blood:
2	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
3	chr16:71962634..71964492-chr16:72041229..72043764,2	MCF-7	breast:
4	chr16:72040983..72044286-chr16:72126039..72129128,5	MCF-7	breast:
5	chr16:71928144..71931559-chr16:72041567..72044276,4	MCF-7	breast:
6	chr16:72036596..72038959-chr16:72040320..72042460,3	K562	blood:
7	chr16:71840992..71843295-chr16:72041440..72044182,2	K562	blood:
8	chr16:72041299..72042941-chr20:49409461..49412156,2	MCF-7	breast:
9	chr16:71841795..71843345-chr16:72041440..72043953,2	K562	blood:

Variant related genes	Relation type
ENSG00000263311	TF binding region
DHODH	TF binding region
ATP5A1P3	TF binding region
ENSG00000140829	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000140830	Chromatin interaction
ENSG00000263311	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000124243	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv906894	chr16:72013539-72046211	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a
9	esv1843253	chr16:72042428-72059149	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72038000-72042600	Weak transcription	Gastric	stomach
2	chr16:72041200-72042600	Enhancers	Placenta	Placenta
3	chr16:72041800-72042600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr16:72041800-72043200	Active TSS	Primary T cells from cord blood	blood
5	chr16:72042000-72042600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr16:72042000-72042600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:72042000-72042800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:72042000-72042800	Active TSS	Duodenum Mucosa	Duodenum
9	chr16:72042000-72042800	Active TSS	Thymus	Thymus
10	chr16:72042000-72042800	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr16:72042000-72043000	Active TSS	Brain Anterior Caudate	brain
12	chr16:72042000-72043000	Active TSS	Brain Cingulate Gyrus	brain
13	chr16:72042000-72043000	Active TSS	Fetal Thymus	thymus
14	chr16:72042000-72043200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:72042000-72043200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:72042000-72043200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:72042000-72043200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:72042000-72043200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:72042000-72043200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr16:72042000-72043200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:72042000-72043200	Active TSS	Liver	Liver
22	chr16:72042000-72043200	Active TSS	Brain Hippocampus Middle	brain
23	chr16:72042000-72043200	Active TSS	Fetal Intestine Small	intestine
24	chr16:72042000-72043200	Active TSS	Right Atrium	heart
25	chr16:72042000-72043200	Active TSS	GM12878-XiMat	blood
26	chr16:72042000-72043200	Active TSS	NHEK	skin
27	chr16:72042000-72043400	Active TSS	Stomach Smooth Muscle	stomach
28	chr16:72042000-72043600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr16:72042000-72043600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr16:72042000-72043600	Active TSS	A549	lung
31	chr16:72042000-72043600	Active TSS	K562	blood
32	chr16:72042000-72043800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr16:72042000-72043800	Active TSS	Hela-S3	cervix
34	chr16:72042000-72043800	Active TSS	HSMM	muscle
35	chr16:72042200-72042600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr16:72042200-72042600	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr16:72042200-72042800	Active TSS	Primary B cells from cord blood	blood
38	chr16:72042200-72042800	Active TSS	Primary T cells fromperipheralblood	blood
39	chr16:72042200-72042800	Active TSS	Primary hematopoietic stem cells	blood
40	chr16:72042200-72042800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr16:72042200-72042800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr16:72042200-72042800	Active TSS	Adipose Nuclei	Adipose
43	chr16:72042200-72042800	Active TSS	Fetal Muscle Trunk	muscle
44	chr16:72042200-72042800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr16:72042200-72043000	Active TSS	Primary B cells from peripheral blood	blood
46	chr16:72042200-72043000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr16:72042200-72043000	Active TSS	Colon Smooth Muscle	Colon
48	chr16:72042200-72043000	Active TSS	Fetal Muscle Leg	muscle
49	chr16:72042200-72043200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr16:72042200-72043200	Active TSS	H1 Cell Line	embryonic stem cell

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