Variant report

Variant	rs545684449
Chromosome Location	chr16:12010211-12010212
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	CEBPD	chr16:12009444-12010289	HepG2	liver:	n/a	n/a
2	RCOR1	chr16:12009612-12011029	HepG2	liver:	n/a	n/a
3	ELF1	chr16:12009525-12010837	MCF-7	breast:	n/a	chr16:12010049-12010058 chr16:12009769-12009778 chr16:12009772-12009781 chr16:12009773-12009785 chr16:12009770-12009782
4	MAX	chr16:12009783-12010262	H1-hESC	embryonic stem cell:	n/a	chr16:12010123-12010134
5	JUND	chr16:12009812-12010941	HepG2	liver:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589
6	SRF	chr16:12009608-12010405	MCF-7	breast:	n/a	n/a
7	EP300	chr16:12009221-12010444	SK-N-SH	brain:	n/a	chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
8	REST	chr16:12009890-12010251	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr16:12007910-12010814	MCF10A-Er-Src	breast:	n/a	n/a
10	ETS1	chr16:12009610-12010254	GM12878	blood:	n/a	chr16:12009767-12009778 chr16:12009965-12009978 chr16:12010050-12010059 chr16:12010050-12010061 chr16:12010058-12010071 chr16:12009770-12009781 chr16:12010050-12010059 chr16:12010050-12010067 chr16:12010050-12010059 chr16:12010050-12010059 chr16:12010046-12010062 chr16:12010050-12010059 chr16:12010051-12010061 chr16:12010050-12010059 chr16:12010049-12010058 chr16:12010048-12010057 chr16:12010050-12010067
11	MXI1	chr16:12008090-12010945	Hela-S3	cervix:	n/a	n/a
12	REST	chr16:12009535-12010729	HepG2	liver:	n/a	chr16:12009832-12009845
13	MYC	chr16:12009652-12010217	H1-hESC	embryonic stem cell:	n/a	chr16:12010123-12010134
14	ZBTB7A	chr16:12009537-12010275	K562	blood:	n/a	n/a
15	TBL1XR1	chr16:12009667-12010889	K562	blood:	n/a	n/a
16	HDAC2	chr16:12009974-12010234	K562	blood:	n/a	n/a
17	TCF12	chr16:12009570-12010289	GM12878	blood:	n/a	n/a
18	SP4	chr16:12009722-12010239	H1-hESC	embryonic stem cell:	n/a	n/a
19	ELF1	chr16:12009393-12010517	HCT-116	colon:	n/a	chr16:12010049-12010058 chr16:12009769-12009778 chr16:12009772-12009781 chr16:12009773-12009785 chr16:12009770-12009782
20	JUND	chr16:12009601-12010942	MCF-7	breast:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589
21	EP300	chr16:12009662-12010815	K562	blood:	n/a	chr16:12010577-12010586 chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
22	POLR2A	chr16:12008624-12010282	GM12878	blood:	n/a	n/a
23	EGR1	chr16:12009730-12010225	ECC-1	luminal epithelium:	n/a	chr16:12009982-12009991 chr16:12010059-12010083 chr16:12009925-12009938 chr16:12009922-12009936 chr16:12009965-12009989 chr16:12009925-12009938 chr16:12009926-12009935 chr16:12010131-12010141 chr16:12009818-12009833 chr16:12010010-12010034
24	YY1	chr16:12009457-12010280	ECC-1	luminal epithelium:	n/a	chr16:12009772-12009786 chr16:12010108-12010119 chr16:12009772-12009781 chr16:12009770-12009781 chr16:12009671-12009680 chr16:12009769-12009778 chr16:12009769-12009783
25	USF1	chr16:12009828-12010236	SK-N-SH_RA	brain:	n/a	chr16:12010122-12010133
26	NFYB	chr16:12009648-12010226	K562	blood:	n/a	n/a
27	MAZ	chr16:12009094-12010422	GM12878	blood:	n/a	chr16:12009121-12009128 chr16:12009120-12009129 chr16:12010123-12010134 chr16:12009118-12009127 chr16:12009621-12009631
28	RFX5	chr16:12009642-12010302	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:12009553-12010354	K562	blood:	n/a	n/a
30	CTCF	chr16:12010092-12010238	GM19240	blood:	n/a	chr16:12010126-12010135
31	CREB1	chr16:12008393-12010999	HepG2	liver:	n/a	n/a
32	MAX	chr16:12009501-12010357	SK-N-SH	brain:	n/a	chr16:12010123-12010134 chr16:12009621-12009631
33	USF1	chr16:12009796-12010281	ECC-1	luminal epithelium:	n/a	chr16:12010122-12010133
34	TCF7L2	chr16:12009123-12010332	HCT-116	colon:	n/a	n/a
35	SP1	chr16:12009500-12010986	A549	lung:	n/a	chr16:12009856-12009866 chr16:12009857-12009866 chr16:12010082-12010096
36	POLR2A	chr16:12010001-12010228	GM12892	blood:	n/a	n/a
37	RELA	chr16:12009691-12010384	GM18951	blood:	n/a	n/a
38	TCF12	chr16:12009784-12010268	GM12878	blood:	n/a	n/a
39	TAF1	chr16:12009481-12010352	MCF-7	breast:	n/a	n/a
40	USF1	chr16:12009889-12010279	H1-hESC	embryonic stem cell:	n/a	chr16:12010122-12010133
41	POLR2A	chr16:12008584-12010359	GM18505	blood:	n/a	n/a
42	POLR2A	chr16:12009084-12010433	H1-neurons	neurons:	n/a	n/a
43	SETDB1	chr16:12009649-12010600	K562	blood:	n/a	chr16:12010058-12010082 chr16:12010011-12010035 chr16:12009964-12009988 chr16:12009982-12009991
44	RAD21	chr16:12009676-12010339	HepG2	liver:	n/a	chr16:12010127-12010136 chr16:12010137-12010151
45	POLR2A	chr16:12008588-12010364	K562	blood:	n/a	n/a
46	EP300	chr16:12009622-12010917	A549	lung:	n/a	chr16:12010577-12010586 chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
47	POLR2A	chr16:12007357-12010352	GM12878	blood:	n/a	n/a
48	YY1	chr16:12008665-12010401	HepG2	liver:	n/a	chr16:12009772-12009786 chr16:12010108-12010119 chr16:12009772-12009781 chr16:12009167-12009186 chr16:12009770-12009781 chr16:12009671-12009680 chr16:12009769-12009778 chr16:12008899-12008908 chr16:12009769-12009783 chr16:12008899-12008910
49	HNF4G	chr16:12009656-12010858	HepG2	liver:	n/a	chr16:12009871-12009887 chr16:12009875-12009882 chr16:12009871-12009893 chr16:12010025-12010037
50	ZBTB33	chr16:12009677-12010267	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12010179-12010229	GM19239	blood:	n/a
2	chr16:12010179-12010229	ECC-1	luminal epithelium:	n/a
3	chr16:12010179-12010229	AG09309	skin:	n/a
4	chr16:12010179-12010229	HAEpiC	amniotic membrane:	n/a
5	chr16:12010179-12010229	GM12891	blood:	n/a
6	chr16:12010179-12010229	NH-A	brain:	n/a
7	chr16:12010179-12010229	HIPEpiC	eye:	n/a
8	chr16:12010179-12010229	HRCEpiC	kidney:	n/a
9	chr16:12010179-12010229	LNCaP	prostate:	n/a
10	chr16:12010179-12010229	SKMC	muscle:	n/a
11	chr16:12010179-12010229	HepG2	liver:	n/a
12	chr16:12010179-12010229	U87	brain:	n/a
13	chr16:12010179-12010229	HRE	kidney:	n/a
14	chr16:12010179-12010229	IMR90	lung:	fetal
15	chr16:12010179-12010229	Caco-2	colon:	n/a
16	chr16:12010179-12010229	CMK	blood:	n/a
17	chr16:12010179-12010229	HUVEC	blood vessel:	n/a
18	chr16:12010179-12010229	HRPEpiC	eye:	n/a
19	chr16:12010179-12010229	HCF	heart:	n/a
20	chr16:12010179-12010229	HEEpiC	esophagus:	n/a
21	chr16:12010179-12010229	NB4	blood:	n/a
22	chr16:12010179-12010229	NT2-D1	testis:	n/a
23	chr16:12010179-12010229	HCM	heart:	n/a
24	chr16:12010179-12010229	HCPEpiC	choroid plexus:	n/a
25	chr16:12010179-12010229	AG04449	skin:	fetal
26	chr16:12010179-12010229	K562	blood:	n/a
27	chr16:12010179-12010229	NHDF-neo	bronchial:	n/a
28	chr16:12010179-12010229	AG04450	lung:	fetal
29	chr16:12010179-12010229	AG09319	gingival:	n/a
30	chr16:12010179-12010229	HCT-116	colon:	n/a
31	chr16:12010179-12010229	ovcar-3	ovarian:	n/a
32	chr16:12010179-12010229	MCF10A-Er-Src	breast:	n/a
33	chr16:12010179-12010229	Hepatocyte	liver:	n/a
34	chr16:12010179-12010229	HMEC	breast:	n/a
35	chr16:12010179-12010229	GM12892	blood:	n/a
36	chr16:12010179-12010229	Jurkat	blood:	n/a
37	chr16:12010179-12010229	MCF-7	breast:	n/a
38	chr16:12010179-12010229	HL-60	blood:	n/a
39	chr16:12010179-12010229	PFSK-1	brain:	n/a
40	chr16:12010179-12010229	HPAEpiC	pulmonary alveolar:	n/a
41	chr16:12010179-12010229	SK-N-SH	brain:	n/a
42	chr16:12010179-12010229	H1-hESC	embryonic stem cell:	embryo
43	chr16:12010179-12010229	A549	lung:	n/a
44	chr16:12010179-12010229	PrEC	prostate:	n/a
45	chr16:12010179-12010229	SK-N-MC	brain:	n/a
46	chr16:12010179-12010229	Hela-S3	cervix:	n/a
47	chr16:12010179-12010229	GM12878	blood:	n/a
48	chr16:12010179-12010229	BJ	skin:	n/a
49	chr16:12010179-12010229	NHBE	bronchial:	n/a
50	chr16:12010179-12010229	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:101379675..101380180-chr16:12009652..12010648,2	Hela-S3	cervix:
2	chr16:12008410..12010246-chr16:15742278..15744306,2	MCF-7	breast:
3	chr16:11835219..11836957-chr16:12010044..12011553,2	MCF-7	breast:
4	chr16:11835593..11837984-chr16:12009045..12011349,2	K562	blood:
5	chr16:12008162..12010269-chr16:12142729..12146819,3	K562	blood:
6	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
7	chr16:11889469..11891900-chr16:12008639..12011975,4	MCF-7	breast:
8	chr16:12007765..12009301-chr16:12009316..12010905,2	MCF-7	breast:
9	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:
10	chr16:11944315..11946480-chr16:12008232..12011350,3	K562	blood:
11	chr16:11988764..11995180-chr16:12006980..12012068,9	MCF-7	breast:
12	chr16:12007951..12010484-chr17:59476175..59479111,2	MCF-7	breast:
13	chr16:12008413..12010461-chr16:12056035..12059014,2	MCF-7	breast:
14	chr16:11831944..11836692-chr16:12007199..12011492,4	K562	blood:
15	chr16:11943912..11945965-chr16:12008319..12011491,4	MCF-7	breast:
16	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
17	chr16:11439089..11440838-chr16:12008767..12010529,2	K562	blood:
18	chr16:11988100..11996073-chr16:12007143..12011577,10	MCF-7	breast:

Variant related genes	Relation type
GSPT1	TF binding region
ENSG00000266163	TF binding region
GSPT1	CpG island
ENSG00000266163	CpG island
ENSG00000048462	Chromatin interaction
ENSG00000262420	Chromatin interaction
ENSG00000175643	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000122299	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000155287	Chromatin interaction
ENSG00000263307	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000260488	Chromatin interaction
ENSG00000048471	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000153066	Chromatin interaction
ENSG00000072864	Chromatin interaction
ENSG00000103342	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1735	chr16:11986963-12031597	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv974848	chr16:12005053-12020022	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	esv3410856	chr16:12007876-12010424	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
6	esv3518112	chr16:12008201-12011049	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv3518113	chr16:12008201-12011049	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	esv3408224	chr16:12008276-12010824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv519892	chr16:12009781-12010444	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv524025	chr16:12009781-12016919	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12006600-12010400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:12007200-12010400	Active TSS	Right Atrium	heart
3	chr16:12007200-12010600	Active TSS	A549	lung
4	chr16:12007400-12010600	Active TSS	Esophagus	oesophagus
5	chr16:12007400-12010800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:12007600-12010400	Active TSS	Left Ventricle	heart
7	chr16:12007600-12010600	Active TSS	Aorta	Aorta
8	chr16:12007800-12010400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr16:12007800-12010400	Active TSS	Lung	lung
10	chr16:12007800-12010400	Active TSS	Ovary	ovary
11	chr16:12007800-12010600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:12007800-12010600	Active TSS	Pancreas	Pancrea
13	chr16:12008000-12010400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:12008000-12010400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:12008000-12010400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:12008000-12010400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr16:12008000-12010400	Active TSS	Small Intestine	intestine
18	chr16:12008000-12010600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr16:12008000-12010600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:12008000-12010600	Active TSS	Fetal Intestine Small	intestine
21	chr16:12008000-12010600	Active TSS	Psoas Muscle	Psoas
22	chr16:12008000-12010600	Active TSS	Right Ventricle	heart
23	chr16:12008000-12010800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr16:12008000-12010800	Active TSS	NHLF	lung
25	chr16:12008000-12011000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr16:12008200-12010400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:12008200-12010400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr16:12008200-12010400	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr16:12008200-12010400	Active TSS	Thymus	Thymus
30	chr16:12008200-12010600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:12008200-12010600	Active TSS	HSMM	muscle
32	chr16:12008200-12010800	Active TSS	Stomach Mucosa	stomach
33	chr16:12008400-12010400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:12008400-12010400	Active TSS	Colon Smooth Muscle	Colon
35	chr16:12008400-12010600	Active TSS	Fetal Kidney	kidney
36	chr16:12008400-12010600	Active TSS	Rectal Smooth Muscle	rectum
37	chr16:12008400-12010600	Active TSS	NHDF-Ad	bronchial
38	chr16:12008600-12010400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:12008600-12010400	Active TSS	Brain Hippocampus Middle	brain
40	chr16:12008600-12010400	Active TSS	Gastric	stomach
41	chr16:12008600-12010400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr16:12008600-12010600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:12008600-12010600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:12008600-12010600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr16:12008800-12010400	Active TSS	Brain Angular Gyrus	brain
46	chr16:12008800-12010400	Active TSS	Fetal Brain Female	brain
47	chr16:12008800-12010400	Active TSS	Fetal Lung	lung
48	chr16:12008800-12010400	Active TSS	Spleen	Spleen
49	chr16:12009400-12010600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr16:12009800-12010400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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