Variant report

Variant	rs572270377
Chromosome Location	chr16:30347014-30347015
allele	A/T
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	TEAD4	chr16:30346994-30347950	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:30346310-30347446	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr16:30344992-30347021	GM12892	blood:	n/a	n/a
4	GABPA	chr16:30346985-30347286	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr16:30346525-30347761	HepG2	liver:	n/a	n/a
6	SPI1	chr16:30346871-30347151	GM12878	blood:	n/a	n/a
7	EBF1	chr16:30346971-30347180	GM12878	blood:	n/a	n/a
8	MAZ	chr16:30346632-30347598	HepG2	liver:	n/a	n/a
9	HDAC2	chr16:30346989-30347755	HepG2	liver:	n/a	n/a
10	MBD4	chr16:30346836-30348019	HepG2	liver:	n/a	n/a
11	HEY1	chr16:30345511-30348032	HepG2	liver:	n/a	chr16:30346714-30346729
12	HEY1	chr16:30345444-30348016	HepG2	liver:	n/a	chr16:30346714-30346729
13	REST	chr16:30346836-30347303	A549	lung:	n/a	n/a
14	POLR2A	chr16:30346520-30347972	HepG2	liver:	n/a	n/a
15	PML	chr16:30346284-30347204	GM12878	blood:	n/a	n/a
16	SP1	chr16:30345651-30347037	A549	lung:	n/a	chr16:30346755-30346767 chr16:30346267-30346276 chr16:30346808-30346817 chr16:30346698-30346707 chr16:30346830-30346839 chr16:30346698-30346712 chr16:30346830-30346840 chr16:30346830-30346839 chr16:30346830-30346840 chr16:30346267-30346277 chr16:30346268-30346277 chr16:30346831-30346840 chr16:30346829-30346841 chr16:30346266-30346278 chr16:30346806-30346818 chr16:30346830-30346844 chr16:30346710-30346722 chr16:30346829-30346841 chr16:30346268-30346277 chr16:30346757-30346766 chr16:30346807-30346816 chr16:30346266-30346278 chr16:30346808-30346817 chr16:30346699-30346708 chr16:30346806-30346818 chr16:30346005-30346019
17	SP1	chr16:30345965-30347054	A549	lung:	n/a	chr16:30346755-30346767 chr16:30346267-30346276 chr16:30346808-30346817 chr16:30346698-30346707 chr16:30346830-30346839 chr16:30346698-30346712 chr16:30346830-30346840 chr16:30346830-30346839 chr16:30346830-30346840 chr16:30346267-30346277 chr16:30346268-30346277 chr16:30346831-30346840 chr16:30346829-30346841 chr16:30346266-30346278 chr16:30346806-30346818 chr16:30346830-30346844 chr16:30346710-30346722 chr16:30346829-30346841 chr16:30346268-30346277 chr16:30346757-30346766 chr16:30346807-30346816 chr16:30346266-30346278 chr16:30346808-30346817 chr16:30346699-30346708 chr16:30346806-30346818 chr16:30346005-30346019
18	POLR2A	chr16:30345909-30347118	U87	brain:	n/a	n/a
19	TFAP2A	chr16:30345849-30347236	Hela-S3	cervix:	n/a	chr16:30346080-30346088 chr16:30346710-30346725 chr16:30346079-30346094 chr16:30346532-30346544 chr16:30346443-30346451 chr16:30346061-30346069 chr16:30346243-30346253 chr16:30346062-30346070 chr16:30346443-30346451 chr16:30346062-30346070 chr16:30346241-30346255 chr16:30346532-30346544 chr16:30346080-30346088 chr16:30346061-30346069 chr16:30346842-30346856 chr16:30346532-30346544 chr16:30346243-30346253 chr16:30346062-30346070 chr16:30346243-30346253 chr16:30346778-30346790 chr16:30346080-30346088 chr16:30346061-30346069 chr16:30346532-30346544 chr16:30346443-30346451
20	SP1	chr16:30344914-30347031	HepG2	liver:	n/a	chr16:30346755-30346767 chr16:30346267-30346276 chr16:30346808-30346817 chr16:30346698-30346707 chr16:30346830-30346839 chr16:30346698-30346712 chr16:30346830-30346840 chr16:30346830-30346839 chr16:30346830-30346840 chr16:30346267-30346277 chr16:30346268-30346277 chr16:30346831-30346840 chr16:30346829-30346841 chr16:30346266-30346278 chr16:30346806-30346818 chr16:30346830-30346844 chr16:30346710-30346722 chr16:30346829-30346841 chr16:30346268-30346277 chr16:30346757-30346766 chr16:30346807-30346816 chr16:30346266-30346278 chr16:30346808-30346817 chr16:30346699-30346708 chr16:30346806-30346818 chr16:30346005-30346019
21	ZNF384	chr16:30346820-30347228	GM12878	blood:	n/a	n/a
22	TFAP2C	chr16:30345896-30347232	Hela-S3	cervix:	n/a	chr16:30346529-30346544 chr16:30346840-30346855
23	POLR2A	chr16:30346471-30347700	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:30345634-30347040	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr16:30346007-30348661	HepG2	liver:	n/a	n/a
26	REST	chr16:30346436-30347830	HepG2	liver:	n/a	chr16:30347307-30347327 chr16:30347307-30347327 chr16:30347313-30347327
27	POLR2A	chr16:30345675-30347109	PFSK-1	brain:	n/a	n/a
28	TAF1	chr16:30345541-30347027	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:30345643-30347961	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr16:30347012-30347759	HepG2	liver:	n/a	n/a
31	TCF12	chr16:30346389-30347246	A549	lung:	n/a	chr16:30347211-30347221
32	POLR2A	chr16:30345530-30347136	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr16:30345026-30347346	GM12878	blood:	n/a	n/a
34	RUNX3	chr16:30346899-30347421	GM12878	blood:	n/a	chr16:30347335-30347350
35	EBF1	chr16:30346669-30347305	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:30346496-30347859	HepG2	liver:	n/a	n/a
37	GABPA	chr16:30346865-30347312	A549	lung:	n/a	n/a
38	MAX	chr16:30346553-30347237	Hela-S3	cervix:	n/a	n/a
39	MAZ	chr16:30345740-30347453	IMR90	lung:	n/a	chr16:30345880-30345889 chr16:30345879-30345890 chr16:30345992-30346002
40	MYBL2	chr16:30345503-30347026	HepG2	liver:	n/a	n/a
41	POLR2A	chr16:30345893-30347113	SK-N-SH	brain:	n/a	n/a
42	BATF	chr16:30346999-30347227	GM12878	blood:	n/a	chr16:30347130-30347141
43	MXI1	chr16:30345741-30347311	IMR90	lung:	n/a	n/a
44	RUNX3	chr16:30346861-30347286	GM12878	blood:	n/a	n/a
45	MAZ	chr16:30346464-30347129	GM12878	blood:	n/a	n/a
46	MYBL2	chr16:30345542-30348063	HepG2	liver:	n/a	n/a
47	EBF1	chr16:30346893-30347267	GM12878	blood:	n/a	n/a
48	POLR2A	chr16:30345947-30347018	PANC-1	pancreas:	n/a	n/a
49	YY1	chr16:30346292-30347026	HepG2	liver:	n/a	chr16:30346710-30346724 chr16:30346823-30346837 chr16:30346403-30346412 chr16:30346831-30346840 chr16:30346419-30346428 chr16:30346716-30346730 chr16:30346721-30346730
50	HCFC1	chr16:30346303-30347508	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30346820..30348778-chr16:30708252..30710060,2	K562	blood:
2	chr16:30345231..30348064-chr16:30583285..30585199,2	MCF-7	breast:
3	chr16:30346170..30348596-chr16:30376800..30378752,2	MCF-7	breast:
4	chr16:30346222..30347053-chr6:2999778..3000588,2	Hela-S3	cervix:
5	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
6	chr16:30345346..30347194-chr16:30364689..30366452,2	MCF-7	breast:
7	chr16:30344696..30347636-chr16:30378058..30380333,2	MCF-7	breast:
8	chr16:30345814..30348548-chr16:30669791..30672071,2	MCF-7	breast:
9	chr12:56211453..56212433-chr16:30346609..30347165,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000183604	TF binding region
ENSG00000123353	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000124588	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000156860	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061165	chr16:29657389-30363743	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
4	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
6	esv1829730	chr16:30192562-30359312	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv978131	chr16:30269117-30347376	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv3439168	chr16:30345276-30348024	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30344200-30347600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:30344400-30347200	Active TSS	HepG2	liver
3	chr16:30344600-30347200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:30344600-30347200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr16:30344600-30347200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:30344600-30347200	Active TSS	HMEC	breast
7	chr16:30344600-30347400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:30344800-30347400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:30344800-30347600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:30345200-30347200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:30345200-30347200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:30345200-30347200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:30345200-30347200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr16:30345200-30347200	Active TSS	Psoas Muscle	Psoas
15	chr16:30345200-30347200	Active TSS	Right Atrium	heart
16	chr16:30345200-30347200	Active TSS	Right Ventricle	heart
17	chr16:30345200-30347200	Active TSS	NHDF-Ad	bronchial
18	chr16:30345200-30347200	Active TSS	NHLF	lung
19	chr16:30345200-30347400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr16:30345400-30347200	Active TSS	Primary T cells from cord blood	blood
21	chr16:30345400-30347200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:30345400-30347200	Active TSS	Fetal Intestine Large	intestine
23	chr16:30345400-30347400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:30345400-30347400	Active TSS	Osteobl	bone
25	chr16:30345400-30347600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr16:30345600-30347200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr16:30345600-30347200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr16:30345600-30347200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:30345600-30347200	Active TSS	Brain Angular Gyrus	brain
30	chr16:30345600-30347200	Active TSS	Brain Anterior Caudate	brain
31	chr16:30345600-30347200	Active TSS	Brain Hippocampus Middle	brain
32	chr16:30345600-30347200	Active TSS	Esophagus	oesophagus
33	chr16:30345600-30347200	Active TSS	Left Ventricle	heart
34	chr16:30345600-30347200	Active TSS	Thymus	Thymus
35	chr16:30345600-30347400	Active TSS	Fetal Brain Female	brain
36	chr16:30345600-30347400	Active TSS	Fetal Kidney	kidney
37	chr16:30345800-30347200	Active TSS	Gastric	stomach
38	chr16:30345800-30347200	Active TSS	Ovary	ovary
39	chr16:30345800-30347200	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr16:30346400-30347200	Active TSS	Colon Smooth Muscle	Colon
41	chr16:30346800-30347200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr16:30346800-30347200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr16:30346800-30347200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr16:30346800-30347200	Flanking Active TSS	Fetal Thymus	thymus
45	chr16:30346800-30347400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr16:30346800-30347400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr16:30346800-30347400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:30346800-30347400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:30346800-30347400	Flanking Active TSS	Liver	Liver
50	chr16:30346800-30347400	Flanking Active TSS	Placenta	Placenta

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