Variant report

Variant	rs143847526
Chromosome Location	chr12:58119662-58119663
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:58119527-58121014	A549	lung:	n/a	n/a
2	SP1	chr12:58119575-58120932	A549	lung:	n/a	n/a
3	POLR2A	chr12:58119541-58121078	U87	brain:	n/a	n/a
4	MAX	chr12:58119633-58120972	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:58119537-58120740	HCT-116	colon:	n/a	n/a
6	POLR2A	chr12:58119599-58120829	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr12:58119584-58120846	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr12:58119600-58119750	HMF	breast:	n/a	n/a
9	POLR2A	chr12:58119535-58120692	HCT-116	colon:	n/a	n/a
10	MAX	chr12:58119648-58121969	ECC-1	luminal epithelium:	n/a	n/a
11	HCFC1	chr12:58119542-58120855	Hela-S3	cervix:	n/a	n/a
12	ZBTB7A	chr12:58119529-58121173	ECC-1	luminal epithelium:	n/a	n/a
13	E2F6	chr12:58119530-58121095	A549	lung:	n/a	chr12:58120688-58120700 chr12:58120627-58120637 chr12:58120689-58120696 chr12:58120689-58120696 chr12:58120689-58120696
14	CTCF	chr12:58119520-58119670	HFF	foreskin:	n/a	n/a
15	MAX	chr12:58119537-58121393	A549	lung:	n/a	n/a
16	ZBTB7A	chr12:58119490-58121468	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr12:58119634-58120745	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:58119567-58121029	U87	brain:	n/a	n/a
19	MAX	chr12:58119617-58121939	ECC-1	luminal epithelium:	n/a	n/a
20	REST	chr12:58119662-58120353	A549	lung:	n/a	n/a
21	POLR2A	chr12:58119657-58120748	U87	brain:	n/a	n/a
22	TCF12	chr12:58119543-58121052	A549	lung:	n/a	n/a
23	ATF3	chr12:58119607-58120232	A549	lung:	n/a	n/a
24	CTCF	chr12:58119620-58119770	HEEpiC	esophagus:	n/a	n/a
25	BCL3	chr12:58119580-58121022	A549	lung:	n/a	chr12:58120685-58120694
26	POLR2A	chr12:58119562-58120875	SK-N-MC	brain:	n/a	n/a
27	MAZ	chr12:58119500-58121029	IMR90	lung:	n/a	n/a
28	POLR2A	chr12:58119639-58120731	MCF10A-Er-Src	breast:	n/a	n/a
29	SIN3AK20	chr12:58119556-58121139	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:58119573-58120429	HCT-116	colon:	n/a	n/a
31	CTCF	chr12:58119621-58121278	A549	lung:	n/a	n/a
32	CTCF	chr12:58119552-58121145	SK-N-SH	brain:	n/a	n/a
33	MAX	chr12:58119651-58121054	A549	lung:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57912789..57915911-chr12:58119258..58122771,4	MCF-7	breast:
2	chr12:58002964..58008004-chr12:58117447..58122099,5	MCF-7	breast:
3	chr12:58119624..58120427-chr12:58131646..58132182,3	MCF-7	breast:
4	chr12:58026571..58028240-chr12:58118727..58121626,2	MCF-7	breast:
5	chr12:57912267..57913858-chr12:58118505..58121411,2	MCF-7	breast:
6	chr12:57940714..57942505-chr12:58117953..58120525,2	MCF-7	breast:
7	chr12:58085694..58088995-chr12:58116929..58123534,7	MCF-7	breast:
8	chr12:57992481..57994669-chr12:58118545..58120936,2	MCF-7	breast:
9	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:
10	chr12:58119523..58120051-chr12:58132094..58132767,2	MCF-7	breast:
11	chr12:58119467..58120431-chr2:220042425..220043204,2	Hela-S3	cervix:
12	chr12:58085407..58089363-chr12:58117669..58123604,12	MCF-7	breast:
13	chr12:57983656..57985947-chr12:58119170..58122047,3	MCF-7	breast:
14	chr12:57984405..57986520-chr12:58117809..58119763,2	MCF-7	breast:
15	chr12:58009848..58012356-chr12:58118975..58121392,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257499	TF binding region
AGAP2-AS1	TF binding region
ENSG00000257342	TF binding region
ENSG00000208028	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000144567	Chromatin interaction
ENSG00000115649	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000166908	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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv1851618	chr12:58109302-58131947	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
7	nsv826383	chr12:58118080-58123647	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv899122	chr12:58118248-58137563	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58106200-58120000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:58110000-58119800	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:58113800-58119800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:58114000-58120600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:58115000-58119800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:58115000-58120800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:58115200-58123600	Weak transcription	GM12878-XiMat	blood
8	chr12:58115600-58119800	Weak transcription	Pancreas	Pancrea
9	chr12:58115600-58124000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:58115800-58119800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:58115800-58119800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:58115800-58119800	Weak transcription	Liver	Liver
13	chr12:58115800-58119800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:58116000-58119800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:58116000-58119800	Weak transcription	Brain Angular Gyrus	brain
16	chr12:58116000-58119800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:58116000-58119800	Weak transcription	Gastric	stomach
18	chr12:58116000-58119800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:58116000-58120200	Weak transcription	Aorta	Aorta
20	chr12:58116000-58120200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:58117400-58119800	Weak transcription	Right Atrium	heart
22	chr12:58118000-58119800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:58118200-58119800	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:58118400-58132000	Strong transcription	Primary T cells from cord blood	blood
25	chr12:58118800-58119800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:58118800-58119800	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:58119000-58120000	Enhancers	Primary B cells from cord blood	blood
28	chr12:58119200-58120000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:58119200-58120000	Enhancers	Lung	lung
30	chr12:58119200-58120800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:58119200-58120800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:58119200-58120800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:58119200-58122000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:58119200-58132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:58119400-58120000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:58119400-58122800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:58119600-58119800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:58119600-58119800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:58119600-58119800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:58119600-58119800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:58119600-58119800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:58119600-58119800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:58119600-58119800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr12:58119600-58119800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:58119600-58119800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:58119600-58119800	Enhancers	Adipose Nuclei	Adipose
47	chr12:58119600-58119800	Enhancers	Brain Anterior Caudate	brain
48	chr12:58119600-58119800	Active TSS	Brain Cingulate Gyrus	brain
49	chr12:58119600-58119800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:58119600-58119800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum

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