Variant report

Variant	rs557336065
Chromosome Location	chr16:71917381-71917382
allele	C/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	MAX	chr16:71917295-71918780	HepG2	liver:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
2	TCF7L2	chr16:71917195-71917387	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:71916890-71918799	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr16:71917340-71917490	GM12870	blood:	n/a	n/a
5	JUND	chr16:71917129-71917528	K562	blood:	n/a	n/a
6	EBF1	chr16:71916344-71917509	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:71917327-71917592	K562	blood:	n/a	n/a
8	WRNIP1	chr16:71916427-71917397	GM12878	blood:	n/a	n/a
9	TAF1	chr16:71916835-71918785	H1-neurons	neurons:	n/a	n/a
10	EP300	chr16:71917334-71917534	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:71916839-71918754	H1-neurons	neurons:	n/a	n/a
12	ZBTB7A	chr16:71916839-71918759	ECC-1	luminal epithelium:	n/a	chr16:71917750-71917759
13	ZEB1	chr16:71916903-71917572	GM12878	blood:	n/a	chr16:71917224-71917233
14	EGR1	chr16:71917247-71917704	MCF-7	breast:	n/a	chr16:71917462-71917471 chr16:71917461-71917474 chr16:71917460-71917475 chr16:71917477-71917491 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917460-71917474 chr16:71917458-71917472 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917462-71917472 chr16:71917462-71917472
15	SIN3AK20	chr16:71917075-71917514	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr16:71917280-71917430	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr16:71917360-71917510	HepG2	liver:	n/a	n/a
18	HMGN3	chr16:71917239-71918581	K562	blood:	n/a	n/a
19	CTCF	chr16:71917360-71917510	Caco-2	colon:	n/a	n/a
20	RELA	chr16:71916349-71917527	GM18951	blood:	n/a	n/a
21	POLR2A	chr16:71916952-71918603	GM19099	blood:	n/a	n/a
22	RCOR1	chr16:71917021-71918708	K562	blood:	n/a	n/a
23	YY1	chr16:71917293-71918503	GM12878	blood:	n/a	chr16:71917670-71917681 chr16:71917628-71917639 chr16:71918045-71918055 chr16:71917477-71917488 chr16:71918044-71918052 chr16:71918033-71918055
24	GTF2F1	chr16:71917339-71917454	Hela-S3	cervix:	n/a	n/a
25	YY1	chr16:71917324-71918633	GM12892	blood:	n/a	chr16:71917670-71917681 chr16:71917628-71917639 chr16:71918045-71918055 chr16:71917477-71917488 chr16:71918044-71918052 chr16:71918033-71918055
26	CTCF	chr16:71917360-71917510	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr16:71917280-71917430	AoAF	blood vessel:	n/a	n/a
28	MAX	chr16:71917347-71917564	K562	blood:	n/a	chr16:71917463-71917472
29	ZNF143	chr16:71917009-71918323	GM12878	blood:	n/a	chr16:71918056-71918066 chr16:71918130-71918140
30	CTCF	chr16:71916117-71918628	SK-N-SH	brain:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
31	EGR1	chr16:71917095-71918424	HCT-116	colon:	n/a	chr16:71917462-71917471 chr16:71917461-71917474 chr16:71917460-71917475 chr16:71917477-71917491 chr16:71918175-71918188 chr16:71918124-71918137 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917460-71917474 chr16:71918180-71918190 chr16:71918121-71918135 chr16:71917458-71917472 chr16:71917461-71917474 chr16:71917849-71917859 chr16:71917462-71917473 chr16:71917462-71917472 chr16:71917462-71917472
32	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
33	CHD1	chr16:71917251-71917430	H1-hESC	embryonic stem cell:	n/a	n/a
34	TBL1XR1	chr16:71917365-71917405	K562	blood:	n/a	n/a
35	CHD2	chr16:71916886-71918585	GM12878	blood:	n/a	chr16:71917752-71917762
36	EGR1	chr16:71917243-71917558	H1-hESC	embryonic stem cell:	n/a	chr16:71917462-71917471 chr16:71917461-71917474 chr16:71917460-71917475 chr16:71917477-71917491 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917460-71917474 chr16:71917458-71917472 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917462-71917472 chr16:71917462-71917472
37	EGR1	chr16:71917304-71917603	GM12878	blood:	n/a	chr16:71917462-71917471 chr16:71917461-71917474 chr16:71917460-71917475 chr16:71917477-71917491 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917460-71917474 chr16:71917458-71917472 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917462-71917472 chr16:71917462-71917472
38	BHLHE40	chr16:71917125-71917543	GM12878	blood:	n/a	n/a
39	EGR1	chr16:71917261-71917597	K562	blood:	n/a	chr16:71917462-71917471 chr16:71917461-71917474 chr16:71917460-71917475 chr16:71917477-71917491 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917460-71917474 chr16:71917458-71917472 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917462-71917472 chr16:71917462-71917472
40	HDAC2	chr16:71917314-71917567	K562	blood:	n/a	n/a
41	EGR1	chr16:71916977-71918452	HCT-116	colon:	n/a	chr16:71917462-71917471 chr16:71917461-71917474 chr16:71917460-71917475 chr16:71917477-71917491 chr16:71918175-71918188 chr16:71918124-71918137 chr16:71917461-71917474 chr16:71917462-71917473 chr16:71917460-71917474 chr16:71918180-71918190 chr16:71918121-71918135 chr16:71917458-71917472 chr16:71917461-71917474 chr16:71917849-71917859 chr16:71917462-71917473 chr16:71917462-71917472 chr16:71917462-71917472
42	CHD2	chr16:71917345-71917573	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr16:71917155-71918748	K562	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
44	MXI1	chr16:71917030-71917478	Hela-S3	cervix:	n/a	n/a
45	MXI1	chr16:71917220-71918862	IMR90	lung:	n/a	n/a
46	CUX1	chr16:71916318-71917464	GM12878	blood:	n/a	n/a
47	MAX	chr16:71917036-71917524	GM12878	blood:	n/a	chr16:71917463-71917472
48	EP300	chr16:71917239-71917413	K562	blood:	n/a	n/a
49	POLR2A	chr16:71917319-71918637	K562	blood:	n/a	n/a
50	YY1	chr16:71917262-71918665	K562	blood:	n/a	chr16:71917670-71917681 chr16:71917628-71917639 chr16:71918045-71918055 chr16:71917477-71917488 chr16:71918044-71918052 chr16:71918033-71918055

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	chr16:71841119..71843508-chr16:71916755..71918312,2	K562	blood:
5	chr16:71913427..71915836-chr16:71916588..71919509,4	K562	blood:
6	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
7	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
8	chr16:71917025..71919213-chr20:46129079..46131183,2	MCF-7	breast:
9	chr16:71840886..71843601-chr16:71915608..71919137,4	MCF-7	breast:
10	chr16:71916310..71918495-chr16:71961448..71964132,2	K562	blood:
11	chr16:71841119..71844188-chr16:71916755..71919955,4	K562	blood:
12	chr16:71916398..71918691-chr16:71923967..71926523,2	K562	blood:
13	chr16:71916483..71919796-chr16:71926616..71929598,5	K562	blood:
14	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
15	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:
16	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:

Variant related genes	Relation type
IST1	TF binding region
ENSG00000261765	TF binding region
ZNF821	TF binding region
ENSG00000263320	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000166747	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71914800-71918800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr16:71916200-71917400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr16:71916200-71919000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:71916400-71917400	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr16:71916400-71917400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr16:71916400-71917400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr16:71916400-71917400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:71916400-71917400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr16:71916400-71917400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr16:71916400-71917400	Flanking Active TSS	HUVEC	blood vessel
11	chr16:71916400-71917400	Flanking Active TSS	K562	blood
12	chr16:71916400-71917400	Flanking Active TSS	NHEK	skin
13	chr16:71916400-71917600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr16:71916400-71917600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
15	chr16:71916400-71917800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:71916400-71918800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:71916400-71919000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr16:71916600-71917400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:71916600-71917400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:71916600-71917400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:71916600-71917400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:71916600-71917400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr16:71916600-71917400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:71916600-71917400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr16:71916600-71917400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:71916600-71917400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr16:71916600-71917400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:71916600-71917400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:71916600-71917400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr16:71916600-71917400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:71916600-71917400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:71916600-71917400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:71916600-71917400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr16:71916600-71917400	Flanking Active TSS	Liver	Liver
35	chr16:71916600-71917400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr16:71916600-71917400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr16:71916600-71917400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr16:71916600-71917400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr16:71916600-71917400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr16:71916600-71917400	Active TSS	Fetal Brain Male	brain
41	chr16:71916600-71917400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr16:71916600-71917400	Flanking Active TSS	Fetal Stomach	stomach
43	chr16:71916600-71917400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr16:71916600-71917400	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr16:71916600-71917400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr16:71916600-71917400	Flanking Active TSS	Stomach Mucosa	stomach
47	chr16:71916600-71917400	Flanking Active TSS	GM12878-XiMat	blood
48	chr16:71916600-71917400	Flanking Active TSS	Hela-S3	cervix
49	chr16:71916600-71917400	Flanking Active TSS	HSMM	muscle
50	chr16:71916600-71917400	Flanking Active TSS	NH-A	brain

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