Variant report

Variant	rs571937074
Chromosome Location	chr12:21680805-21680806
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	RAD21	chr12:21680422-21681108	H1-hESC	embryonic stem cell:	n/a	chr12:21680886-21680900 chr12:21680865-21680878
2	RFX5	chr12:21680790-21680846	HepG2	liver:	n/a	n/a
3	CTCF	chr12:21680760-21680910	HRE	kidney:	n/a	n/a
4	HA-E2F1	chr12:21680601-21681237	MCF-7	breast:	n/a	n/a
5	GTF2F1	chr12:21680795-21681056	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:21680782-21680844	A549	lung:	n/a	n/a
7	POLR2A	chr12:21680356-21681169	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr12:21680797-21680930	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr12:21680766-21681160	HepG2	liver:	n/a	chr12:21680961-21680975
10	POLR2A	chr12:21680643-21681007	MCF10A-Er-Src	breast:	n/a	n/a
11	TAF1	chr12:21680321-21681122	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:21680323-21681092	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:21680685-21681016	A549	lung:	n/a	n/a
14	MAX	chr12:21680335-21681218	A549	lung:	n/a	n/a
15	POLR2A	chr12:21680359-21681086	A549	lung:	n/a	n/a
16	CREB1	chr12:21680598-21681094	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:21680699-21681102	MCF10A-Er-Src	breast:	n/a	n/a
18	CTBP2	chr12:21680322-21681135	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr12:21680402-21681050	H1-hESC	embryonic stem cell:	n/a	n/a
20	GABPA	chr12:21680658-21681054	A549	lung:	n/a	chr12:21680778-21680787
21	SIN3A	chr12:21680469-21681074	H1-hESC	embryonic stem cell:	n/a	chr12:21680971-21680980
22	POLR2A	chr12:21680401-21681133	A549	lung:	n/a	n/a
23	USF1	chr12:21680671-21681160	ECC-1	luminal epithelium:	n/a	chr12:21680964-21680980
24	EBF1	chr12:21680751-21681252	GM12878	blood:	n/a	chr12:21681048-21681057 chr12:21681046-21681059 chr12:21681048-21681057 chr12:21681046-21681057 chr12:21681047-21681057
25	YY1	chr12:21680689-21681138	H1-hESC	embryonic stem cell:	n/a	chr12:21680961-21680975
26	CREB1	chr12:21680383-21681134	A549	lung:	n/a	n/a
27	POLR2A	chr12:21680312-21680953	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF7	chr12:21680482-21681051	H1-hESC	embryonic stem cell:	n/a	n/a
29	TAF1	chr12:21680571-21681094	H1-hESC	embryonic stem cell:	n/a	n/a
30	GABPA	chr12:21680756-21680965	GM12878	blood:	n/a	chr12:21680778-21680787
31	EBF1	chr12:21680639-21681266	GM12878	blood:	n/a	chr12:21681048-21681057 chr12:21681046-21681059 chr12:21681048-21681057 chr12:21681046-21681057 chr12:21681047-21681057
32	GABPA	chr12:21680620-21681078	H1-hESC	embryonic stem cell:	n/a	chr12:21680778-21680787
33	ZBTB7A	chr12:21680151-21681210	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr12:21680522-21680927	H1-hESC	embryonic stem cell:	n/a	n/a
35	PAX5	chr12:21680793-21681053	GM12892	blood:	n/a	n/a
36	GABPA	chr12:21680771-21680882	GM12878	blood:	n/a	chr12:21680778-21680787
37	USF2	chr12:21680792-21680918	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:21680781-21681133	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr12:21680576-21681117	A549	lung:	n/a	n/a
40	NFIC	chr12:21680401-21681209	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr12:21680700-21680850	GM12870	blood:	n/a	n/a
42	POLR2A	chr12:21680452-21681194	GM18951	blood:	n/a	n/a
43	TCF12	chr12:21680317-21681217	A549	lung:	n/a	n/a
44	KAP1	chr12:21680562-21681263	HEK293	kidney:	n/a	n/a
45	CREB1	chr12:21680585-21681121	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr12:21680599-21681137	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr12:21680793-21681005	Gliobla	brain:	n/a	n/a
48	TAF1	chr12:21680560-21681136	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr12:21680631-21681045	A549	lung:	n/a	n/a
50	RAD21	chr12:21680467-21681115	H1-hESC	embryonic stem cell:	n/a	chr12:21680886-21680900 chr12:21680865-21680878

Variant related genes	Relation type
C12orf39	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv557743	chr12:21670410-21688900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv898897	chr12:21680363-21781141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21679800-21681200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:21679800-21681400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr12:21679800-21681400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:21679800-21681600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:21680000-21681000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:21680000-21681000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:21680000-21681000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:21680000-21681200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:21680000-21681200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:21680000-21681200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:21680000-21681200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:21680000-21681200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:21680000-21681200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:21680000-21681200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:21680000-21681200	Active TSS	Brain Angular Gyrus	brain
16	chr12:21680000-21681200	Active TSS	Brain Substantia Nigra	brain
17	chr12:21680000-21681200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:21680000-21681200	Active TSS	Psoas Muscle	Psoas
19	chr12:21680000-21681200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
20	chr12:21680000-21681200	Active TSS	Stomach Smooth Muscle	stomach
21	chr12:21680000-21681200	Bivalent/Poised TSS	GM12878-XiMat	blood
22	chr12:21680000-21681400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:21680000-21681400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:21680000-21681400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:21680000-21681400	Flanking Active TSS	Liver	Liver
26	chr12:21680000-21681400	Active TSS	Brain Anterior Caudate	brain
27	chr12:21680000-21681400	Active TSS	Brain Cingulate Gyrus	brain
28	chr12:21680000-21681400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:21680000-21681400	Active TSS	Right Ventricle	heart
30	chr12:21680000-21681400	Bivalent/Poised TSS	NHDF-Ad	bronchial
31	chr12:21680200-21681000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:21680200-21681000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:21680200-21681000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
34	chr12:21680200-21681000	Active TSS	Left Ventricle	heart
35	chr12:21680200-21681000	Active TSS	A549	lung
36	chr12:21680200-21681000	Bivalent/Poised TSS	HepG2	liver
37	chr12:21680200-21681000	Active TSS	HSMM	muscle
38	chr12:21680200-21681200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:21680200-21681200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr12:21680200-21681200	Active TSS	Muscle Satellite Cultured Cells	--
41	chr12:21680200-21681200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:21680200-21681200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:21680200-21681200	Active TSS	Aorta	Aorta
44	chr12:21680200-21681200	Active TSS	Colon Smooth Muscle	Colon
45	chr12:21680200-21681200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr12:21680200-21681200	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr12:21680200-21681200	Active TSS	Fetal Heart	heart
48	chr12:21680200-21681200	Active TSS	Rectal Smooth Muscle	rectum
49	chr12:21680200-21681200	Bivalent/Poised TSS	Thymus	Thymus
50	chr12:21680200-21681200	Active TSS	NHLF	lung

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