Variant report

Variant	rs558765121
Chromosome Location	chr16:71916753-71916754
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	PML	chr16:71916219-71916862	GM12878	blood:	n/a	n/a
2	ZNF143	chr16:71916294-71916756	GM12878	blood:	n/a	n/a
3	EBF1	chr16:71916344-71917509	GM12878	blood:	n/a	n/a
4	WRNIP1	chr16:71916427-71917397	GM12878	blood:	n/a	n/a
5	ATF2	chr16:71916243-71916778	GM12878	blood:	n/a	n/a
6	PAX5	chr16:71916331-71916767	GM12878	blood:	n/a	chr16:71916525-71916544
7	RELA	chr16:71916349-71917527	GM18951	blood:	n/a	n/a
8	TCF12	chr16:71916288-71916804	SK-N-SH	brain:	n/a	n/a
9	PAX5	chr16:71916335-71916817	GM12891	blood:	n/a	chr16:71916525-71916544
10	PAX5	chr16:71916350-71916769	GM12892	blood:	n/a	chr16:71916525-71916544
11	RAD21	chr16:71916260-71916812	MCF-7	breast:	n/a	n/a
12	CTCF	chr16:71916117-71918628	SK-N-SH	brain:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
13	CEBPB	chr16:71916410-71916956	K562	blood:	n/a	n/a
14	REST	chr16:71916268-71918981	H1-neurons	neurons:	n/a	chr16:71917704-71917722 chr16:71917883-71917896 chr16:71918681-71918699 chr16:71918681-71918694 chr16:71917886-71917899 chr16:71918678-71918691 chr16:71917703-71917723
15	ATF2	chr16:71916219-71916867	GM12878	blood:	n/a	n/a
16	CTCF	chr16:71916155-71916835	HCT-116	colon:	n/a	n/a
17	CTCF	chr16:71916700-71916850	WI-38	lung:	n/a	n/a
18	GATA3	chr16:71916366-71916773	MCF-7	breast:	n/a	n/a
19	PAX5	chr16:71916258-71916878	GM12878	blood:	n/a	chr16:71916323-71916332 chr16:71916525-71916544
20	RAD21	chr16:71916225-71916758	A549	lung:	n/a	n/a
21	RUNX3	chr16:71916313-71917171	GM12878	blood:	n/a	chr16:71916684-71916699
22	CUX1	chr16:71916318-71917464	GM12878	blood:	n/a	n/a
23	CTCF	chr16:71916290-71916918	IMR90	lung:	n/a	n/a
24	POLR2A	chr16:71916356-71916784	H1-neurons	neurons:	n/a	n/a
25	ARID3A	chr16:71916292-71916755	HepG2	liver:	n/a	n/a
26	SMC3	chr16:71916289-71918777	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr16:71916397-71918588	GM12878	blood:	n/a	n/a
28	FOXM1	chr16:71916246-71917074	GM12878	blood:	n/a	n/a
29	MEF2A	chr16:71916255-71916758	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr16:71916317-71917778	GM12878	blood:	n/a	n/a
31	CTCF	chr16:71916184-71916944	A549	lung:	n/a	n/a
32	RFX5	chr16:71916306-71917120	Hela-S3	cervix:	n/a	n/a
33	MTA3	chr16:71916372-71917623	GM12878	blood:	n/a	n/a
34	TCF7L2	chr16:71916321-71916970	PANC-1	pancreas:	n/a	n/a
35	MAZ	chr16:71916312-71918705	GM12878	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
36	NFIC	chr16:71916284-71916907	GM12878	blood:	n/a	n/a
37	PAX5	chr16:71916370-71916795	GM12878	blood:	n/a	chr16:71916525-71916544
38	RAD21	chr16:71916242-71916774	HCT-116	colon:	n/a	n/a
39	BCLAF1	chr16:71916241-71916788	GM12878	blood:	n/a	chr16:71916323-71916332
40	YY1	chr16:71916300-71916906	GM12878	blood:	n/a	n/a
41	RUNX3	chr16:71916259-71917134	GM12878	blood:	n/a	chr16:71916684-71916699
42	MXI1	chr16:71916364-71918710	GM12878	blood:	n/a	n/a
43	TBP	chr16:71916330-71917291	GM12878	blood:	n/a	n/a
44	NFIC	chr16:71916215-71917569	GM12878	blood:	n/a	n/a
45	MXI1	chr16:71916250-71919068	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71879026..71881212-chr16:71914841..71917763,3	MCF-7	breast:
2	chr16:71912441..71914997-chr16:71916463..71919857,4	K562	blood:
3	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
4	chr16:71913427..71915836-chr16:71916588..71919509,4	K562	blood:
5	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
6	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
7	chr16:71840886..71843601-chr16:71915608..71919137,4	MCF-7	breast:
8	chr16:71916310..71918495-chr16:71961448..71964132,2	K562	blood:
9	chr16:71916398..71918691-chr16:71923967..71926523,2	K562	blood:
10	chr16:71916483..71919796-chr16:71926616..71929598,5	K562	blood:
11	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
12	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:

Variant related genes	Relation type
ZNF821	TF binding region
IST1	TF binding region
ENSG00000261765	TF binding region
ENSG00000261513	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3328027	chr16:71916676-71919424	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
4	chr16:71899000-71917000	Weak transcription	Pancreas	Pancrea
5	chr16:71899800-71916800	Weak transcription	Brain Substantia Nigra	brain
6	chr16:71900200-71917200	Weak transcription	Gastric	stomach
7	chr16:71902200-71916800	Weak transcription	Aorta	Aorta
8	chr16:71911600-71917000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:71911600-71917000	Weak transcription	Lung	lung
10	chr16:71914200-71917000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:71914600-71916800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:71914600-71917000	Weak transcription	Ovary	ovary
13	chr16:71914800-71916800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:71914800-71916800	Weak transcription	Spleen	Spleen
15	chr16:71914800-71917000	Weak transcription	Left Ventricle	heart
16	chr16:71914800-71918800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr16:71915200-71916800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:71915400-71917000	Active TSS	Fetal Brain Female	brain
19	chr16:71915800-71916800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr16:71916200-71917400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr16:71916200-71919000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr16:71916400-71916800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:71916400-71916800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:71916400-71916800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr16:71916400-71916800	Active TSS	Brain Angular Gyrus	brain
26	chr16:71916400-71916800	Enhancers	Placenta	Placenta
27	chr16:71916400-71917000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:71916400-71917000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:71916400-71917000	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr16:71916400-71917000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr16:71916400-71917000	Flanking Active TSS	Dnd41	blood
32	chr16:71916400-71917200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:71916400-71917200	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr16:71916400-71917200	Flanking Active TSS	Fetal Lung	lung
35	chr16:71916400-71917200	Flanking Active TSS	A549	lung
36	chr16:71916400-71917400	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr16:71916400-71917400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr16:71916400-71917400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr16:71916400-71917400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:71916400-71917400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr16:71916400-71917400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr16:71916400-71917400	Flanking Active TSS	HUVEC	blood vessel
43	chr16:71916400-71917400	Flanking Active TSS	K562	blood
44	chr16:71916400-71917400	Flanking Active TSS	NHEK	skin
45	chr16:71916400-71917600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr16:71916400-71917600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr16:71916400-71917800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:71916400-71918800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr16:71916400-71919000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr16:71916600-71916800	Active TSS	H9 Cell Line	embryonic stem cell

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