Variant report

Variant	rs529976491
Chromosome Location	chr16:12191966-12191967
allele	C/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	MBD4	chr16:12191208-12191979	HepG2	liver:	n/a	n/a
2	MYBL2	chr16:12191166-12191997	HepG2	liver:	n/a	n/a
3	HDAC2	chr16:12191004-12192119	HepG2	liver:	n/a	chr16:12191397-12191411
4	MYBL2	chr16:12190649-12192069	HepG2	liver:	n/a	n/a
5	RAD21	chr16:12191362-12192065	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:12191185-12192028	HepG2	liver:	n/a	n/a
7	TEAD4	chr16:12191028-12191970	HepG2	liver:	n/a	n/a
8	HNF4G	chr16:12191170-12191982	HepG2	liver:	n/a	n/a
9	MAX	chr16:12191545-12192012	HepG2	liver:	n/a	n/a
10	FOXA1	chr16:12191044-12191993	HepG2	liver:	n/a	n/a
11	HEY1	chr16:12191292-12192029	HepG2	liver:	n/a	n/a
12	FOXA1	chr16:12191094-12191982	HepG2	liver:	n/a	n/a
13	JUN	chr16:12191248-12192182	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000261293	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039492	chr16:12176517-12210702	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv571460	chr16:12181702-12238602	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3337175	chr16:12191551-12195249	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12178600-12199600	Weak transcription	Aorta	Aorta
2	chr16:12184200-12192200	Weak transcription	Gastric	stomach
3	chr16:12184200-12193000	Enhancers	Fetal Thymus	thymus
4	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:12186800-12213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:12187000-12192200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr16:12188000-12194400	Strong transcription	GM12878-XiMat	blood
8	chr16:12188200-12192000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:12188400-12193600	Enhancers	Placenta	Placenta
10	chr16:12188800-12192400	Enhancers	Fetal Stomach	stomach
11	chr16:12188800-12192400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr16:12189000-12192000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:12189000-12192000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr16:12189000-12192000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr16:12189200-12192000	Enhancers	Brain Substantia Nigra	brain
16	chr16:12189200-12192000	Enhancers	Left Ventricle	heart
17	chr16:12189200-12192000	Enhancers	Right Ventricle	heart
18	chr16:12189200-12192000	Enhancers	HSMM	muscle
19	chr16:12189200-12192000	Enhancers	NHEK	skin
20	chr16:12189200-12192200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:12189200-12192200	Enhancers	HSMMtube	muscle
22	chr16:12189200-12192400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:12189200-12192600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:12189200-12192600	Enhancers	Spleen	Spleen
25	chr16:12189600-12192000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:12189600-12192400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:12189600-12192400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:12189600-12192400	Enhancers	Duodenum Mucosa	Duodenum
29	chr16:12189600-12192800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr16:12189600-12192800	Enhancers	Fetal Lung	lung
31	chr16:12189600-12193600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr16:12189600-12194000	Enhancers	Fetal Muscle Leg	muscle
33	chr16:12189600-12194000	Enhancers	Ovary	ovary
34	chr16:12189600-12204000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:12189600-12204800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr16:12189600-12204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:12189800-12192000	Enhancers	Colon Smooth Muscle	Colon
38	chr16:12189800-12192000	Enhancers	Rectal Smooth Muscle	rectum
39	chr16:12189800-12192000	Enhancers	NHLF	lung
40	chr16:12189800-12192200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr16:12189800-12192200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr16:12189800-12192400	Enhancers	Brain Hippocampus Middle	brain
43	chr16:12189800-12192800	Weak transcription	Primary T cells from cord blood	blood
44	chr16:12189800-12192800	Enhancers	Brain Cingulate Gyrus	brain
45	chr16:12189800-12205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr16:12189800-12209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:12189800-12220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr16:12190000-12192000	Enhancers	Brain Angular Gyrus	brain
49	chr16:12190000-12192200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:12190000-12199600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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