Variant report

Variant	rs561723770
Chromosome Location	chr16:12010608-12010609
allele	A/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	RCOR1	chr16:12009612-12011029	HepG2	liver:	n/a	n/a
2	SIN3AK20	chr16:12010404-12010781	A549	lung:	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	JUND	chr16:12009812-12010941	HepG2	liver:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589
5	POLR2A	chr16:12007910-12010814	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr16:12008090-12010945	Hela-S3	cervix:	n/a	n/a
7	REST	chr16:12009535-12010729	HepG2	liver:	n/a	chr16:12009832-12009845
8	TBL1XR1	chr16:12009667-12010889	K562	blood:	n/a	n/a
9	JUND	chr16:12009601-12010942	MCF-7	breast:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589
10	EP300	chr16:12009662-12010815	K562	blood:	n/a	chr16:12010577-12010586 chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
11	POLR2A	chr16:12010366-12010864	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr16:12008393-12010999	HepG2	liver:	n/a	n/a
13	SP1	chr16:12009500-12010986	A549	lung:	n/a	chr16:12009856-12009866 chr16:12009857-12009866 chr16:12010082-12010096
14	FOS	chr16:12010389-12010867	MCF10A-Er-Src	breast:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010578-12010589
15	MAFK	chr16:12010354-12010898	HepG2	liver:	n/a	n/a
16	EP300	chr16:12009622-12010917	A549	lung:	n/a	chr16:12010577-12010586 chr16:12009771-12009780 chr16:12010110-12010119 chr16:12009774-12009783
17	HNF4G	chr16:12009656-12010858	HepG2	liver:	n/a	chr16:12009871-12009887 chr16:12009875-12009882 chr16:12009871-12009893 chr16:12010025-12010037
18	SRF	chr16:12009593-12010946	MCF-7	breast:	n/a	n/a
19	RAD21	chr16:12010087-12010769	HepG2	liver:	n/a	chr16:12010127-12010136 chr16:12010137-12010151
20	MBD4	chr16:12009689-12011005	HepG2	liver:	n/a	n/a
21	CTCF	chr16:12010460-12010610	BJ	skin:	n/a	n/a
22	MBD4	chr16:12009554-12010972	HepG2	liver:	n/a	n/a
23	CEBPB	chr16:12009656-12010954	Hela-S3	cervix:	n/a	n/a
24	SP1	chr16:12009547-12010979	A549	lung:	n/a	chr16:12009856-12009866 chr16:12009857-12009866 chr16:12010082-12010096
25	HA-E2F1	chr16:12009704-12010874	MCF-7	breast:	n/a	chr16:12009776-12009786 chr16:12010644-12010652 chr16:12010643-12010653 chr16:12010645-12010652 chr16:12009770-12009780 chr16:12010644-12010652 chr16:12009773-12009783
26	CTCF	chr16:12010480-12010630	HMF	breast:	n/a	n/a
27	POLR2A	chr16:12008311-12010849	IMR90	lung:	n/a	n/a
28	REST	chr16:12009575-12010985	A549	lung:	n/a	chr16:12009832-12009845
29	MAX	chr16:12008210-12010904	Hela-S3	cervix:	n/a	chr16:12009121-12009128 chr16:12009120-12009129 chr16:12008343-12008354 chr16:12010123-12010134 chr16:12009118-12009127 chr16:12009621-12009631
30	STAT3	chr16:12010295-12010894	MCF10A-Er-Src	breast:	n/a	chr16:12010576-12010585
31	TCF12	chr16:12009398-12011038	A549	lung:	n/a	n/a
32	RCOR1	chr16:12009507-12010673	K562	blood:	n/a	n/a
33	POLR2A	chr16:12007278-12010747	PBDE	blood:	n/a	n/a
34	STAT3	chr16:12010380-12010720	MCF10A-Er-Src	breast:	n/a	chr16:12010576-12010585
35	RFX5	chr16:12009606-12010803	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr16:12009499-12010988	HepG2	liver:	n/a	n/a
37	SMC3	chr16:12009660-12010970	Hela-S3	cervix:	n/a	chr16:12010098-12010105 chr16:12010122-12010136
38	POLR2A	chr16:12009602-12010861	HepG2	liver:	n/a	n/a
39	BACH1	chr16:12010242-12010754	H1-hESC	embryonic stem cell:	n/a	chr16:12010574-12010588
40	JUND	chr16:12009594-12010878	HepG2	liver:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010575-12010586 chr16:12010578-12010589
41	ELF1	chr16:12009566-12010872	HepG2	liver:	n/a	chr16:12010049-12010058 chr16:12009769-12009778 chr16:12009772-12009781 chr16:12009773-12009785 chr16:12009770-12009782
42	ETS1	chr16:12009526-12010812	A549	lung:	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
43	FOS	chr16:12009830-12010894	MCF10A-Er-Src	breast:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010578-12010589
44	STAT3	chr16:12010315-12010757	MCF10A-Er-Src	breast:	n/a	chr16:12010576-12010585
45	SRF	chr16:12010530-12010809	HepG2	liver:	n/a	n/a
46	FOSL2	chr16:12010393-12010806	A549	lung:	n/a	chr16:12010577-12010584 chr16:12010577-12010586 chr16:12010761-12010773 chr16:12010578-12010589
47	MYC	chr16:12007707-12010626	K562	blood:	n/a	chr16:12009121-12009128 chr16:12009120-12009129 chr16:12008343-12008354 chr16:12010123-12010134 chr16:12009118-12009127 chr16:12009621-12009631
48	TEAD4	chr16:12009716-12011061	HepG2	liver:	n/a	n/a
49	NFIC	chr16:12009526-12011070	HepG2	liver:	n/a	n/a
50	EP300	chr16:12010182-12011015	Hela-S3	cervix:	n/a	chr16:12010577-12010586

No.	Distal block	Cell Line	Cell type
1	chr10:101379675..101380180-chr16:12009652..12010648,2	Hela-S3	cervix:
2	chr16:11835219..11836957-chr16:12010044..12011553,2	MCF-7	breast:
3	chr16:11835593..11837984-chr16:12009045..12011349,2	K562	blood:
4	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
5	chr16:11889469..11891900-chr16:12008639..12011975,4	MCF-7	breast:
6	chr16:12007765..12009301-chr16:12009316..12010905,2	MCF-7	breast:
7	chr16:12010326..12012796-chr16:12069017..12071833,3	MCF-7	breast:
8	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:
9	chr16:11944315..11946480-chr16:12008232..12011350,3	K562	blood:
10	chr16:11988764..11995180-chr16:12006980..12012068,9	MCF-7	breast:
11	chr16:10710065..10712953-chr16:12010240..12012086,2	MCF-7	breast:
12	chr16:11831944..11836692-chr16:12007199..12011492,4	K562	blood:
13	chr16:11943912..11945965-chr16:12008319..12011491,4	MCF-7	breast:
14	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
15	chr16:11988100..11996073-chr16:12007143..12011577,10	MCF-7	breast:
16	chr16:12010494..12013016-chr16:12016316..12019639,3	MCF-7	breast:

Variant related genes	Relation type
GSPT1	TF binding region
ENSG00000266163	TF binding region
ENSG00000262420	Chromatin interaction
ENSG00000155287	Chromatin interaction
ENSG00000122299	Chromatin interaction
ENSG00000153066	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000263307	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000260488	Chromatin interaction
ENSG00000048471	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	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	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
6	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
7	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
8	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
9	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12007400-12010800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:12008000-12010800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr16:12008000-12010800	Active TSS	NHLF	lung
4	chr16:12008000-12011000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:12008200-12010800	Active TSS	Stomach Mucosa	stomach
6	chr16:12010000-12010800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr16:12010000-12010800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:12010200-12010800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:12010200-12010800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr16:12010200-12010800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:12010200-12010800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr16:12010200-12010800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr16:12010200-12010800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr16:12010200-12010800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr16:12010200-12010800	Flanking Active TSS	Liver	Liver
16	chr16:12010200-12010800	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr16:12010200-12010800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr16:12010200-12010800	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr16:12010200-12010800	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr16:12010200-12010800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr16:12010200-12010800	Flanking Active TSS	Dnd41	blood
22	chr16:12010200-12010800	ZNF genes & repeats	GM12878-XiMat	blood
23	chr16:12010200-12010800	Flanking Active TSS	HUVEC	blood vessel
24	chr16:12010200-12010800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr16:12010200-12011000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr16:12010200-12011000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:12010200-12011000	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr16:12010200-12011000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr16:12010200-12011000	Flanking Active TSS	Osteobl	bone
30	chr16:12010400-12010800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:12010400-12010800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:12010400-12010800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:12010400-12010800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr16:12010400-12010800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr16:12010400-12010800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr16:12010400-12010800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr16:12010400-12010800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:12010400-12010800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr16:12010400-12010800	Flanking Active TSS	Fetal Lung	lung
40	chr16:12010400-12010800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr16:12010400-12011000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:12010400-12011000	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr16:12010600-12010800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr16:12010600-12010800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:12010600-12010800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:12010600-12010800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:12010600-12010800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr16:12010600-12010800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:12010600-12010800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr16:12010600-12010800	Enhancers	Primary monocytes fromperipheralblood	blood

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