Variant report

Variant	rs368605821
Chromosome Location	chr16:71917439-71917440
allele	A/G
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	POLR2A	chr16:71916890-71918799	H1-neurons	neurons:	n/a	n/a
3	CTCF	chr16:71917340-71917490	GM12870	blood:	n/a	n/a
4	JUND	chr16:71917129-71917528	K562	blood:	n/a	n/a
5	EBF1	chr16:71916344-71917509	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:71917327-71917592	K562	blood:	n/a	n/a
7	TAF1	chr16:71916835-71918785	H1-neurons	neurons:	n/a	n/a
8	EP300	chr16:71917334-71917534	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:71916839-71918754	H1-neurons	neurons:	n/a	n/a
10	ZBTB7A	chr16:71916839-71918759	ECC-1	luminal epithelium:	n/a	chr16:71917750-71917759
11	ZEB1	chr16:71916903-71917572	GM12878	blood:	n/a	chr16:71917224-71917233
12	POLR2A	chr16:71917390-71918377	HUVEC	blood vessel:	n/a	n/a
13	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
14	SIN3AK20	chr16:71917075-71917514	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr16:71917360-71917510	HepG2	liver:	n/a	n/a
16	HMGN3	chr16:71917239-71918581	K562	blood:	n/a	n/a
17	CTCF	chr16:71917360-71917510	Caco-2	colon:	n/a	n/a
18	RELA	chr16:71916349-71917527	GM18951	blood:	n/a	n/a
19	POLR2A	chr16:71916952-71918603	GM19099	blood:	n/a	n/a
20	SIN3AK20	chr16:71917397-71917569	HepG2	liver:	n/a	n/a
21	RCOR1	chr16:71917021-71918708	K562	blood:	n/a	n/a
22	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
23	GTF2F1	chr16:71917339-71917454	Hela-S3	cervix:	n/a	n/a
24	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
25	CTCF	chr16:71917360-71917510	HBMEC	blood vessel:	n/a	n/a
26	MAX	chr16:71917347-71917564	K562	blood:	n/a	chr16:71917463-71917472
27	ZNF143	chr16:71917009-71918323	GM12878	blood:	n/a	chr16:71918056-71918066 chr16:71918130-71918140
28	CTCF	chr16:71916117-71918628	SK-N-SH	brain:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
29	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
30	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
31	CHD2	chr16:71916886-71918585	GM12878	blood:	n/a	chr16:71917752-71917762
32	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
33	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
34	BHLHE40	chr16:71917125-71917543	GM12878	blood:	n/a	n/a
35	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
36	HDAC2	chr16:71917314-71917567	K562	blood:	n/a	n/a
37	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
38	CHD2	chr16:71917345-71917573	Hela-S3	cervix:	n/a	n/a
39	MAZ	chr16:71917155-71918748	K562	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
40	MXI1	chr16:71917030-71917478	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr16:71917220-71918862	IMR90	lung:	n/a	n/a
42	CUX1	chr16:71916318-71917464	GM12878	blood:	n/a	n/a
43	MAX	chr16:71917036-71917524	GM12878	blood:	n/a	chr16:71917463-71917472
44	POLR2A	chr16:71917319-71918637	K562	blood:	n/a	n/a
45	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
46	POLR2A	chr16:71916938-71918675	GM18505	blood:	n/a	n/a
47	SMC3	chr16:71916289-71918777	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr16:71916397-71918588	GM12878	blood:	n/a	n/a
49	ZBTB7A	chr16:71917276-71918634	K562	blood:	n/a	chr16:71917750-71917759
50	MAX	chr16:71917367-71917552	K562	blood:	n/a	chr16:71917463-71917472

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
ZNF821	TF binding region
ENSG00000261765	TF binding region
IST1	TF binding region
ENSG00000166747	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000261513	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	chr16:71916200-71919000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:71916400-71917600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr16:71916400-71917600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
5	chr16:71916400-71917800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:71916400-71918800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:71916400-71919000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr16:71916600-71917600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr16:71916600-71917600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:71916600-71917600	Flanking Active TSS	HMEC	breast
11	chr16:71916600-71917600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr16:71916600-71918600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr16:71916600-71918800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:71916600-71918800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:71916600-71918800	Active TSS	Esophagus	oesophagus
16	chr16:71916600-71918800	Active TSS	HSMMtube	muscle
17	chr16:71916800-71918400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:71916800-71918400	Active TSS	Fetal Muscle Trunk	muscle
19	chr16:71916800-71918600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr16:71916800-71918600	Active TSS	Small Intestine	intestine
21	chr16:71916800-71918800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:71916800-71918800	Active TSS	Aorta	Aorta
23	chr16:71916800-71918800	Active TSS	Right Atrium	heart
24	chr16:71916800-71918800	Active TSS	Right Ventricle	heart
25	chr16:71917000-71917600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr16:71917000-71917600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:71917000-71917600	Bivalent/Poised TSS	Thymus	Thymus
28	chr16:71917000-71917800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:71917000-71918600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:71917000-71918600	Active TSS	Lung	lung
31	chr16:71917000-71918600	Active TSS	Pancreas	Pancrea
32	chr16:71917000-71918600	Active TSS	Spleen	Spleen
33	chr16:71917000-71918800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr16:71917000-71918800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:71917000-71918800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr16:71917000-71918800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr16:71917000-71918800	Active TSS	Ovary	ovary
38	chr16:71917000-71919000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr16:71917000-71919200	Active TSS	Brain Anterior Caudate	brain
40	chr16:71917000-71919200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr16:71917200-71917600	Active TSS	Fetal Heart	heart
42	chr16:71917200-71918600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:71917200-71918600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:71917200-71918600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:71917200-71918600	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr16:71917200-71918600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr16:71917200-71918600	Active TSS	Gastric	stomach
48	chr16:71917200-71918600	Active TSS	A549	lung
49	chr16:71917200-71918600	Active TSS	NHLF	lung
50	chr16:71917200-71918800	Active TSS	H1 Cell Line	embryonic stem cell

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