Variant report

Variant	rs568681468
Chromosome Location	chr16:12010107-12010108
allele	G/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	CEBPD	chr16:12009444-12010289	HepG2	liver:	n/a	n/a
2	CTCF	chr16:12010072-12010152	GM13977	blood:	n/a	chr16:12010126-12010135
3	RCOR1	chr16:12009612-12011029	HepG2	liver:	n/a	n/a
4	ELF1	chr16:12009525-12010837	MCF-7	breast:	n/a	chr16:12010049-12010058 chr16:12009769-12009778 chr16:12009772-12009781 chr16:12009773-12009785 chr16:12009770-12009782
5	MAX	chr16:12009783-12010262	H1-hESC	embryonic stem cell:	n/a	chr16:12010123-12010134
6	JUND	chr16:12009812-12010941	HepG2	liver:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589
7	SRF	chr16:12009608-12010405	MCF-7	breast:	n/a	n/a
8	EP300	chr16:12009221-12010444	SK-N-SH	brain:	n/a	chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
9	REST	chr16:12009890-12010251	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr16:12007910-12010814	MCF10A-Er-Src	breast:	n/a	n/a
11	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
12	MXI1	chr16:12008090-12010945	Hela-S3	cervix:	n/a	n/a
13	REST	chr16:12009535-12010729	HepG2	liver:	n/a	chr16:12009832-12009845
14	MYC	chr16:12009652-12010217	H1-hESC	embryonic stem cell:	n/a	chr16:12010123-12010134
15	ZBTB7A	chr16:12009537-12010275	K562	blood:	n/a	n/a
16	TBL1XR1	chr16:12009667-12010889	K562	blood:	n/a	n/a
17	HDAC2	chr16:12009974-12010234	K562	blood:	n/a	n/a
18	TCF12	chr16:12009570-12010289	GM12878	blood:	n/a	n/a
19	SP4	chr16:12009722-12010239	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELF1	chr16:12009393-12010517	HCT-116	colon:	n/a	chr16:12010049-12010058 chr16:12009769-12009778 chr16:12009772-12009781 chr16:12009773-12009785 chr16:12009770-12009782
21	JUND	chr16:12009601-12010942	MCF-7	breast:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589
22	EP300	chr16:12009662-12010815	K562	blood:	n/a	chr16:12010577-12010586 chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
23	POLR2A	chr16:12008624-12010282	GM12878	blood:	n/a	n/a
24	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
25	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
26	USF1	chr16:12009828-12010236	SK-N-SH_RA	brain:	n/a	chr16:12010122-12010133
27	NFYB	chr16:12009648-12010226	K562	blood:	n/a	n/a
28	MAZ	chr16:12009094-12010422	GM12878	blood:	n/a	chr16:12009121-12009128 chr16:12009120-12009129 chr16:12010123-12010134 chr16:12009118-12009127 chr16:12009621-12009631
29	RFX5	chr16:12009642-12010302	HepG2	liver:	n/a	n/a
30	POLR2A	chr16:12009553-12010354	K562	blood:	n/a	n/a
31	HA-E2F1	chr16:12008816-12010206	Hela-S3	cervix:	n/a	chr16:12009776-12009786 chr16:12009607-12009619 chr16:12009147-12009156 chr16:12009611-12009618 chr16:12009671-12009680 chr16:12009770-12009780 chr16:12009611-12009618 chr16:12009773-12009783 chr16:12009611-12009618
32	CTCF	chr16:12010092-12010238	GM19240	blood:	n/a	chr16:12010126-12010135
33	CREB1	chr16:12008393-12010999	HepG2	liver:	n/a	n/a
34	USF1	chr16:12009706-12010164	A549	lung:	n/a	chr16:12009769-12009785 chr16:12009772-12009788 chr16:12009719-12009735 chr16:12010122-12010133
35	MAX	chr16:12009501-12010357	SK-N-SH	brain:	n/a	chr16:12010123-12010134 chr16:12009621-12009631
36	USF1	chr16:12009796-12010281	ECC-1	luminal epithelium:	n/a	chr16:12010122-12010133
37	EP300	chr16:12009751-12010127	SK-N-SH_RA	brain:	n/a	chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
38	TCF7L2	chr16:12009123-12010332	HCT-116	colon:	n/a	n/a
39	SP1	chr16:12009500-12010986	A549	lung:	n/a	chr16:12009856-12009866 chr16:12009857-12009866 chr16:12010082-12010096
40	POLR2A	chr16:12010001-12010228	GM12892	blood:	n/a	n/a
41	RELA	chr16:12009691-12010384	GM18951	blood:	n/a	n/a
42	TCF12	chr16:12009784-12010268	GM12878	blood:	n/a	n/a
43	TAF1	chr16:12009481-12010352	MCF-7	breast:	n/a	n/a
44	USF1	chr16:12009889-12010279	H1-hESC	embryonic stem cell:	n/a	chr16:12010122-12010133
45	POLR2A	chr16:12008584-12010359	GM18505	blood:	n/a	n/a
46	POLR2A	chr16:12009084-12010433	H1-neurons	neurons:	n/a	n/a
47	SETDB1	chr16:12009649-12010600	K562	blood:	n/a	chr16:12010058-12010082 chr16:12010011-12010035 chr16:12009964-12009988 chr16:12009982-12009991
48	RAD21	chr16:12009676-12010339	HepG2	liver:	n/a	chr16:12010127-12010136 chr16:12010137-12010151
49	POLR2A	chr16:12008588-12010364	K562	blood:	n/a	n/a
50	EP300	chr16:12009622-12010917	A549	lung:	n/a	chr16:12010577-12010586 chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783

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	chr16:12009346..12010195-chr2:201676259..201676837,2	Hela-S3	cervix:
9	chr16:12007765..12009301-chr16:12009316..12010905,2	MCF-7	breast:
10	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:
11	chr16:11944315..11946480-chr16:12008232..12011350,3	K562	blood:
12	chr16:11988764..11995180-chr16:12006980..12012068,9	MCF-7	breast:
13	chr16:12007951..12010484-chr17:59476175..59479111,2	MCF-7	breast:
14	chr16:12008413..12010461-chr16:12056035..12059014,2	MCF-7	breast:
15	chr16:11831944..11836692-chr16:12007199..12011492,4	K562	blood:
16	chr16:11943912..11945965-chr16:12008319..12011491,4	MCF-7	breast:
17	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
18	chr16:11836330..11838361-chr16:12008535..12010129,2	MCF-7	breast:
19	chr16:11439089..11440838-chr16:12008767..12010529,2	K562	blood:
20	chr16:11988100..11996073-chr16:12007143..12011577,10	MCF-7	breast:
21	chr16:12007711..12010113-chr16:12069770..12071913,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266163	TF binding region
GSPT1	TF binding region
ENSG00000121068	Chromatin interaction
ENSG00000175643	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000153066	Chromatin interaction
ENSG00000082153	Chromatin interaction
ENSG00000260488	Chromatin interaction
ENSG00000048462	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000262420	Chromatin interaction
ENSG00000155287	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000122299	Chromatin interaction
ENSG00000048471	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000263307	Chromatin interaction
ENSG00000072864	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	chr16:12007400-12010200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:12007400-12010200	Active TSS	HSMMtube	muscle
6	chr16:12007400-12010600	Active TSS	Esophagus	oesophagus
7	chr16:12007400-12010800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:12007600-12010400	Active TSS	Left Ventricle	heart
9	chr16:12007600-12010600	Active TSS	Aorta	Aorta
10	chr16:12007800-12010200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:12007800-12010200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:12007800-12010200	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr16:12007800-12010200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:12007800-12010200	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr16:12007800-12010200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr16:12007800-12010200	Active TSS	Fetal Intestine Large	intestine
17	chr16:12007800-12010400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr16:12007800-12010400	Active TSS	Lung	lung
19	chr16:12007800-12010400	Active TSS	Ovary	ovary
20	chr16:12007800-12010600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:12007800-12010600	Active TSS	Pancreas	Pancrea
22	chr16:12008000-12010200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:12008000-12010200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr16:12008000-12010200	Active TSS	Fetal Muscle Trunk	muscle
25	chr16:12008000-12010200	Active TSS	Placenta	Placenta
26	chr16:12008000-12010200	Active TSS	HMEC	breast
27	chr16:12008000-12010400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:12008000-12010400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:12008000-12010400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:12008000-12010400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr16:12008000-12010400	Active TSS	Small Intestine	intestine
32	chr16:12008000-12010600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr16:12008000-12010600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:12008000-12010600	Active TSS	Fetal Intestine Small	intestine
35	chr16:12008000-12010600	Active TSS	Psoas Muscle	Psoas
36	chr16:12008000-12010600	Active TSS	Right Ventricle	heart
37	chr16:12008000-12010800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr16:12008000-12010800	Active TSS	NHLF	lung
39	chr16:12008000-12011000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr16:12008200-12010200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr16:12008200-12010200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr16:12008200-12010200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:12008200-12010200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr16:12008200-12010200	Active TSS	Colonic Mucosa	Colon
45	chr16:12008200-12010200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr16:12008200-12010200	Active TSS	Fetal Thymus	thymus
47	chr16:12008200-12010200	Active TSS	Hela-S3	cervix
48	chr16:12008200-12010200	Active TSS	NH-A	brain
49	chr16:12008200-12010400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:12008200-12010400	Active TSS	Duodenum Smooth Muscle	Duodenum

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