Variant report

Variant	rs547963966
Chromosome Location	chr16:73090277-73090278
allele	-/A
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	chr16:73085684-73094561	H1-neurons	neurons:	n/a	n/a
2	CEBPB	chr16:73089729-73090385	A549	lung:	n/a	n/a
3	FOSL2	chr16:73089361-73090341	A549	lung:	n/a	chr16:73090050-73090060 chr16:73090050-73090060
4	MAFK	chr16:73088569-73090572	Hela-S3	cervix:	n/a	chr16:73090463-73090478 chr16:73090376-73090391
5	POLR2A	chr16:73088988-73090646	HepG2	liver:	n/a	n/a
6	TAF1	chr16:73089047-73090867	H1-neurons	neurons:	n/a	n/a
7	FOS	chr16:73089872-73090286	MCF10A-Er-Src	breast:	n/a	chr16:73090050-73090060 chr16:73090050-73090060
8	MAFK	chr16:73089700-73090619	HepG2	liver:	n/a	chr16:73090463-73090478 chr16:73090376-73090391
9	MAFF	chr16:73089662-73090590	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:73088440-73091927	MCF10A-Er-Src	breast:	n/a	n/a
11	TAF1	chr16:73089013-73090724	H1-neurons	neurons:	n/a	n/a
12	MBD4	chr16:73089220-73090336	HepG2	liver:	n/a	n/a
13	MAFK	chr16:73089730-73090635	HepG2	liver:	n/a	chr16:73090463-73090478 chr16:73090376-73090391
14	POLR2A	chr16:73086786-73093402	Hela-S3	cervix:	n/a	n/a
15	MAX	chr16:73089154-73090347	Hela-S3	cervix:	n/a	n/a
16	SPI1	chr16:73090276-73090755	HL-60	blood:	n/a	n/a
17	MAFK	chr16:73089824-73090654	IMR90	lung:	n/a	chr16:73090463-73090478 chr16:73090376-73090391
18	HDAC2	chr16:73089125-73090461	HepG2	liver:	n/a	chr16:73089397-73089411
19	POLR2A	chr16:73089455-73090487	HepG2	liver:	n/a	n/a
20	FOS	chr16:73089922-73090288	MCF10A-Er-Src	breast:	n/a	chr16:73090050-73090060 chr16:73090050-73090060
21	REST	chr16:73088841-73090994	H1-neurons	neurons:	n/a	n/a
22	MBD4	chr16:73089492-73090329	HepG2	liver:	n/a	n/a
23	RAD21	chr16:73088505-73090282	IMR90	lung:	n/a	n/a
24	EP300	chr16:73089850-73090315	Hela-S3	cervix:	n/a	chr16:73090104-73090118
25	POLR2A	chr16:73086674-73090413	Hela-S3	cervix:	n/a	n/a
26	NFIC	chr16:73088528-73090357	HepG2	liver:	n/a	n/a
27	FOXA2	chr16:73089378-73090419	HepG2	liver:	n/a	chr16:73089798-73089810
28	POLR2A	chr16:73089258-73090284	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:73089136-73092404	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF12	chr16:73086886-73090314	A549	lung:	n/a	n/a
31	TBP	chr16:73088484-73090398	Hela-S3	cervix:	n/a	n/a
32	HEY1	chr16:73088938-73090771	HepG2	liver:	n/a	n/a
33	BRCA1	chr16:73086734-73090278	Hela-S3	cervix:	n/a	chr16:73089202-73089209
34	TEAD4	chr16:73088516-73090463	HepG2	liver:	n/a	n/a
35	CHD1	chr16:73084743-73093728	IMR90	lung:	n/a	chr16:73092049-73092059 chr16:73091379-73091389 chr16:73092358-73092368 chr16:73091670-73091680 chr16:73087450-73087460 chr16:73087960-73087970
36	POLR2A	chr16:73086460-73093544	H1-neurons	neurons:	n/a	n/a
37	CEBPB	chr16:73088499-73090319	Hela-S3	cervix:	n/a	n/a
38	MYBL2	chr16:73088433-73090620	HepG2	liver:	n/a	n/a
39	MYC	chr16:73089843-73090297	MCF10A-Er-Src	breast:	n/a	n/a
40	EP300	chr16:73089519-73090311	HepG2	liver:	n/a	chr16:73090104-73090118
41	POLR2A	chr16:73089474-73090495	HepG2	liver:	n/a	n/a
42	GATA3	chr16:73088499-73090284	MCF-7	breast:	n/a	chr16:73090238-73090249 chr16:73088804-73088815
43	MYBL2	chr16:73089025-73090693	HepG2	liver:	n/a	n/a
44	CEBPB	chr16:73089494-73090297	IMR90	lung:	n/a	n/a
45	POLR2A	chr16:73089132-73090888	HepG2	liver:	n/a	n/a
46	POLR2A	chr16:73089233-73090836	Hela-S3	cervix:	n/a	n/a
47	REST	chr16:73079663-73097378	H1-neurons	neurons:	n/a	chr16:73084142-73084155 chr16:73087431-73087444 chr16:73082371-73082384 chr16:73091909-73091929 chr16:73082047-73082060 chr16:73097037-73097057 chr16:73088004-73088022 chr16:73091374-73091387 chr16:73091745-73091758 chr16:73096963-73096973 chr16:73091633-73091646 chr16:73091913-73091926 chr16:73097037-73097057 chr16:73081695-73081715 chr16:73091544-73091557 chr16:73096925-73096938 chr16:73097330-73097339
48	TCF12	chr16:73088303-73090375	SK-N-SH	brain:	n/a	n/a
49	SMC3	chr16:73088486-73090574	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr16:73088321-73094761	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
2	chr16:72941682..72943809-chr16:73090133..73092250,3	MCF-7	breast:
3	chr16:73052788..73055370-chr16:73088414..73091315,3	MCF-7	breast:
4	chr16:73007881..73009600-chr16:73090024..73092207,2	MCF-7	breast:
5	chr16:73089824..73092143-chr18:3251149..3252786,2	MCF-7	breast:
6	chr16:73089699..73092181-chr9:100817965..100820433,2	MCF-7	breast:
7	chr16:73081344..73082144-chr16:73090114..73090753,2	MCF-7	breast:
8	chr16:72820675..72822937-chr16:73088411..73090468,2	MCF-7	breast:
9	chr16:72535525..72537335-chr16:73089381..73091034,2	MCF-7	breast:
10	chr16:72849283..72851789-chr16:73089410..73091009,2	MCF-7	breast:
11	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
12	chr16:73088909..73091660-chr16:73169088..73170894,3	MCF-7	breast:
13	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
14	chr16:73088393..73091029-chr16:73316559..73318962,2	MCF-7	breast:
15	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
16	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
17	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
18	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
19	chr16:73058271..73060863-chr16:73088850..73091395,2	MCF-7	breast:
20	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
21	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
22	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:
23	chr16:73088683..73091239-chr17:62222998..62225387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ENSG00000266402	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000221799	Chromatin interaction
ENSG00000265573	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000101608	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	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1819498	chr16:73079212-73092845	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
6	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv3338026	chr16:73089651-73094249	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv572960	chr16:73090039-73092950	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73082600-73090400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr16:73083200-73090600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:73083200-73091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:73085800-73091000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:73086400-73091000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:73087000-73090800	Enhancers	HMEC	breast
7	chr16:73087200-73091200	Enhancers	Primary hematopoietic stem cells	blood
8	chr16:73087600-73091400	Weak transcription	Spleen	Spleen
9	chr16:73087800-73090400	Weak transcription	Ovary	ovary
10	chr16:73087800-73090800	Enhancers	Small Intestine	intestine
11	chr16:73087800-73091400	Weak transcription	Lung	lung
12	chr16:73087800-73099200	Active TSS	Aorta	Aorta
13	chr16:73088200-73091000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr16:73088200-73095200	Active TSS	Right Atrium	heart
15	chr16:73088400-73090400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr16:73088400-73090600	Bivalent Enhancer	Fetal Thymus	thymus
17	chr16:73088400-73090800	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr16:73088400-73090800	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr16:73088400-73091000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:73088400-73091200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:73088400-73091200	Flanking Active TSS	Osteobl	bone
22	chr16:73088600-73090800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:73088600-73090800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:73088600-73090800	Flanking Active TSS	Fetal Lung	lung
25	chr16:73088600-73090800	Flanking Active TSS	Hela-S3	cervix
26	chr16:73088600-73091000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:73088600-73091000	Enhancers	Fetal Heart	heart
28	chr16:73088600-73091000	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr16:73088600-73091000	Bivalent Enhancer	Dnd41	blood
30	chr16:73088600-73091400	Flanking Active TSS	NHEK	skin
31	chr16:73088800-73090400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr16:73088800-73090400	Bivalent Enhancer	Primary T cells from cord blood	blood
33	chr16:73088800-73091000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:73088800-73091200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr16:73088800-73093000	Active TSS	Brain Hippocampus Middle	brain
36	chr16:73089200-73090600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
37	chr16:73089200-73090800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr16:73089200-73090800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr16:73089200-73091400	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr16:73089200-73091600	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
42	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr16:73089400-73090800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:73089400-73091200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:73089400-73091400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr16:73089400-73091800	Active TSS	Brain Anterior Caudate	brain
47	chr16:73089600-73090800	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr16:73089600-73090800	Enhancers	GM12878-XiMat	blood
49	chr16:73089600-73091000	Flanking Active TSS	Fetal Stomach	stomach
50	chr16:73089600-73091200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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