Variant report

Variant	rs527575542
Chromosome Location	chr16:81477890-81477891
allele	A/C
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	ZBTB7A	chr16:81477526-81478391	ECC-1	luminal epithelium:	n/a	n/a
2	CHD2	chr16:81477885-81478014	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:81477747-81478685	HCT-116	colon:	n/a	n/a
4	CCNT2	chr16:81477875-81478765	K562	blood:	n/a	n/a
5	ZBTB7A	chr16:81477499-81479563	K562	blood:	n/a	n/a
6	CREB1	chr16:81477623-81478545	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr16:81477812-81477970	MCF-7	breast:	n/a	n/a
8	NR3C1	chr16:81477626-81478811	A549	lung:	n/a	chr16:81477958-81477971 chr16:81477805-81477818
9	POLR2A	chr16:81477691-81480666	K562	blood:	n/a	n/a
10	POLR2A	chr16:81477367-81478529	HepG2	liver:	n/a	n/a
11	JUND	chr16:81477868-81478863	A549	lung:	n/a	n/a
12	POLR2A	chr16:81477830-81478817	HUVEC	blood vessel:	n/a	n/a
13	CREB1	chr16:81477710-81478645	A549	lung:	n/a	n/a
14	EGR1	chr16:81477856-81478221	H1-hESC	embryonic stem cell:	n/a	chr16:81477961-81477974 chr16:81478183-81478197
15	MYC	chr16:81477872-81478680	K562	blood:	n/a	n/a
16	POLR2A	chr16:81477717-81478123	A549	lung:	n/a	n/a
17	MAZ	chr16:81477499-81480759	IMR90	lung:	n/a	chr16:81480230-81480240
18	CREB1	chr16:81477666-81478666	K562	blood:	n/a	n/a
19	POLR2A	chr16:81477195-81480546	IMR90	lung:	n/a	n/a
20	MAZ	chr16:81477715-81480715	K562	blood:	n/a	chr16:81480230-81480240
21	ZBTB7A	chr16:81477831-81478305	HepG2	liver:	n/a	n/a
22	POLR2A	chr16:81477772-81478806	H1-neurons	neurons:	n/a	n/a
23	ZBTB7A	chr16:81477628-81478345	K562	blood:	n/a	n/a
24	CREB1	chr16:81477472-81479349	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:81477869-81479347	K562	blood:	n/a	n/a
26	MAX	chr16:81476981-81479502	A549	lung:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378
27	ETS1	chr16:81477754-81478257	K562	blood:	n/a	chr16:81478202-81478215 chr16:81478219-81478232
28	TEAD4	chr16:81476991-81477953	K562	blood:	n/a	n/a
29	EGR1	chr16:81477746-81478705	K562	blood:	n/a	chr16:81477961-81477974 chr16:81478183-81478197
30	NR2F2	chr16:81477338-81477958	K562	blood:	n/a	n/a
31	POLR2A	chr16:81477782-81477929	A549	lung:	n/a	n/a
32	POLR2A	chr16:81477738-81478094	A549	lung:	n/a	n/a
33	EGR1	chr16:81477806-81478237	ECC-1	luminal epithelium:	n/a	chr16:81477961-81477974 chr16:81478183-81478197
34	MAX	chr16:81477827-81478813	MCF-7	breast:	n/a	n/a
35	TCF12	chr16:81477303-81478079	A549	lung:	n/a	n/a
36	POLR2A	chr16:81477673-81479530	A549	lung:	n/a	n/a
37	SP1	chr16:81477558-81478435	A549	lung:	n/a	chr16:81477959-81477968 chr16:81477690-81477704 chr16:81477967-81477980
38	E2F6	chr16:81477219-81478768	K562	blood:	n/a	chr16:81478316-81478325 chr16:81478222-81478231 chr16:81477961-81477971
39	REST	chr16:81477805-81478052	SK-N-SH	brain:	n/a	chr16:81477962-81477972 chr16:81477893-81477906
40	POLR2A	chr16:81477770-81478122	HCT-116	colon:	n/a	n/a
41	ZBTB7A	chr16:81477361-81478498	ECC-1	luminal epithelium:	n/a	n/a
42	CHD2	chr16:81477835-81477940	K562	blood:	n/a	n/a
43	EGR1	chr16:81477598-81478257	MCF-7	breast:	n/a	chr16:81477961-81477974 chr16:81478183-81478197
44	HDAC2	chr16:81477464-81478766	HepG2	liver:	n/a	n/a
45	REST	chr16:81477084-81480682	H1-neurons	neurons:	n/a	chr16:81480227-81480240 chr16:81479176-81479189 chr16:81477962-81477972 chr16:81477178-81477186 chr16:81477893-81477906 chr16:81478810-81478823 chr16:81479250-81479263 chr16:81480623-81480636
46	CREB1	chr16:81477691-81478593	HepG2	liver:	n/a	n/a
47	EGR1	chr16:81477756-81478684	K562	blood:	n/a	chr16:81477961-81477974 chr16:81478183-81478197
48	EGR1	chr16:81477866-81478494	GM12878	blood:	n/a	chr16:81477961-81477974 chr16:81478183-81478197
49	HMGN3	chr16:81477668-81478516	K562	blood:	n/a	n/a
50	MAX	chr16:81477123-81479385	HepG2	liver:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81477840-81477890	CMK	blood:	n/a
2	chr16:81477864-81477914	GM12891	blood:	n/a
3	chr16:81477840-81477890	HRCEpiC	kidney:	n/a
4	chr16:81477864-81477914	SAEC	small airway:	n/a
5	chr16:81477864-81477914	HEK293	kidney:	embryo
6	chr16:81477864-81477914	A549	lung:	n/a
7	chr16:81477840-81477890	HPAEpiC	pulmonary alveolar:	n/a
8	chr16:81477864-81477914	HCPEpiC	choroid plexus:	n/a
9	chr16:81477864-81477914	ovcar-3	ovarian:	n/a
10	chr16:81477840-81477890	HRE	kidney:	n/a
11	chr16:81477840-81477890	NT2-D1	testis:	n/a
12	chr16:81477864-81477914	BJ	skin:	n/a
13	chr16:81477864-81477914	HCT-116	colon:	n/a
14	chr16:81477840-81477890	HRPEpiC	eye:	n/a
15	chr16:81477864-81477914	CMK	blood:	n/a
16	chr16:81477864-81477914	MCF10A-Er-Src	breast:	n/a
17	chr16:81477864-81477914	SK-N-SH	brain:	n/a
18	chr16:81477864-81477914	PANC-1	pancreas:	n/a
19	chr16:81477840-81477890	ovcar-3	ovarian:	n/a
20	chr16:81477864-81477914	HEEpiC	esophagus:	n/a
21	chr16:81477864-81477914	H1-hESC	embryonic stem cell:	embryo
22	chr16:81477840-81477890	H1-hESC	embryonic stem cell:	embryo
23	chr16:81477864-81477914	GM19239	blood:	n/a
24	chr16:81477840-81477890	BJ	skin:	n/a
25	chr16:81477840-81477890	Hela-S3	cervix:	n/a
26	chr16:81477864-81477914	Hepatocyte	liver:	n/a
27	chr16:81477840-81477890	AG04449	skin:	fetal
28	chr16:81477840-81477890	HNPCEpiC	eye:	n/a
29	chr16:81477840-81477890	SK-N-SH_RA	brain:	n/a
30	chr16:81477840-81477890	AoSMC	blood vessel:	n/a
31	chr16:81477840-81477890	NHDF-neo	bronchial:	n/a
32	chr16:81477840-81477890	BE2_C	brain:	n/a
33	chr16:81477864-81477914	HAEpiC	amniotic membrane:	n/a
34	chr16:81477864-81477914	SK-N-SH_RA	brain:	n/a
35	chr16:81477840-81477890	SK-N-SH	brain:	n/a
36	chr16:81477864-81477914	K562	blood:	n/a
37	chr16:81477864-81477914	PFSK-1	brain:	n/a
38	chr16:81477840-81477890	SK-N-MC	brain:	n/a
39	chr16:81477864-81477914	HCM	heart:	n/a
40	chr16:81477864-81477914	HIPEpiC	eye:	n/a
41	chr16:81477864-81477914	LNCaP	prostate:	n/a
42	chr16:81477840-81477890	A549	lung:	n/a
43	chr16:81477840-81477890	GM12891	blood:	n/a
44	chr16:81477840-81477890	GM12892	blood:	n/a
45	chr16:81477840-81477890	HEK293	kidney:	embryo
46	chr16:81477864-81477914	HRPEpiC	eye:	n/a
47	chr16:81477864-81477914	AG04450	lung:	fetal
48	chr16:81477864-81477914	GM12878	blood:	n/a
49	chr16:81477864-81477914	BE2_C	brain:	n/a
50	chr16:81477840-81477890	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153939722..153940249-chr16:81477656..81478327,2	Hela-S3	cervix:
2	chr16:81477412..81480094-chr16:81509013..81511595,4	MCF-7	breast:
3	chr16:81476563..81478400-chr16:81499399..81501663,2	MCF-7	breast:
4	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
5	chr16:81476183..81478436-chr16:81605516..81607162,2	K562	blood:
6	chr12:10554334..10554872-chr16:81477760..81478703,2	Hela-S3	cervix:
7	chr16:81475472..81478406-chr16:81671837..81673759,2	MCF-7	breast:
8	chr16:81475858..81478568-chr16:81729319..81732099,2	K562	blood:
9	chr16:81477150..81481169-chr16:81642368..81644770,3	MCF-7	breast:
10	chr16:81476956..81478649-chr16:81496180..81498094,2	MCF-7	breast:
11	chr16:81476822..81479616-chr16:81528551..81531319,2	MCF-7	breast:

Variant related genes	Relation type
CMIP	TF binding region
CMIP	CpG island
ENSG00000143570	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000260229	Chromatin interaction
ENSG00000153815	Chromatin interaction
ENSG00000143578	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3357337	chr16:81476876-81479424	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3364489	chr16:81476951-81480349	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv3333736	chr16:81477276-81479824	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3435927	chr16:81477351-81480049	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3402692	chr16:81477376-81480074	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81476000-81478000	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr16:81476000-81478000	Enhancers	Stomach Mucosa	stomach
3	chr16:81476600-81478000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr16:81477200-81478000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:81477200-81478000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:81477200-81478000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr16:81477200-81478000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:81477200-81478000	Enhancers	NHEK	skin
9	chr16:81477400-81478000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr16:81477400-81478000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:81477400-81478000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr16:81477400-81478000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:81477400-81478000	Active TSS	Brain Hippocampus Middle	brain
14	chr16:81477400-81478000	Enhancers	Fetal Brain Male	brain
15	chr16:81477400-81478000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr16:81477400-81478000	Flanking Active TSS	HepG2	liver
17	chr16:81477400-81478000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr16:81477400-81480000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:81477400-81481000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr16:81477600-81478000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr16:81477600-81478000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr16:81477600-81478000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:81477600-81478000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:81477600-81478000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:81477600-81478000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:81477600-81478000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:81477600-81478000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:81477600-81478000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr16:81477600-81478000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr16:81477600-81478000	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr16:81477600-81478000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr16:81477600-81478000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr16:81477600-81478000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr16:81477600-81478000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:81477600-81478000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr16:81477600-81478000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr16:81477600-81478000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:81477600-81478000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:81477600-81478000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:81477600-81478000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr16:81477600-81478000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:81477600-81478000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:81477600-81478000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:81477600-81478000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr16:81477600-81478000	Active TSS	Liver	Liver
46	chr16:81477600-81478000	Active TSS	Brain Angular Gyrus	brain
47	chr16:81477600-81478000	Active TSS	Brain Anterior Caudate	brain
48	chr16:81477600-81478000	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr16:81477600-81478000	Flanking Active TSS	Colonic Mucosa	Colon
50	chr16:81477600-81478000	Flanking Active TSS	Esophagus	oesophagus

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