Variant report

Variant	rs546700847
Chromosome Location	chr3:142681842-142681843
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:142681424-142681971	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr3:142681752-142682086	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:142681583-142683285	PBDE	blood:	n/a	n/a
4	SETDB1	chr3:142680934-142682173	K562	blood:	n/a	n/a
5	TAF1	chr3:142681826-142682870	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr3:142681242-142682221	H1-hESC	embryonic stem cell:	n/a	n/a
7	HMGN3	chr3:142681685-142683281	K562	blood:	n/a	n/a
8	POLR2A	chr3:142681708-142681862	MCF-7	breast:	n/a	n/a
9	TAF1	chr3:142681780-142682155	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr3:142681836-142682096	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr3:142681486-142682063	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr3:142681778-142682048	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr3:142681543-142681857	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr3:142681826-142682078	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:142681743-142682016	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr3:142681102-142682892	H1-hESC	embryonic stem cell:	n/a	chr3:142682194-142682208 chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
17	MAX	chr3:142681255-142682199	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr3:142681257-142683103	A549	lung:	n/a	chr3:142682825-142682834
19	MYC	chr3:142681698-142681861	MCF-7	breast:	n/a	n/a
20	POLR2A	chr3:142681425-142681981	MCF-7	breast:	n/a	n/a
21	POLR2A	chr3:142681737-142683308	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr3:142681840-142681990	SAEC	small airway:	n/a	n/a
23	E2F6	chr3:142681208-142682147	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr3:142681752-142682066	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr3:142681419-142681954	A549	lung:	n/a	n/a
26	MXI1	chr3:142681656-142682008	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142296891..142299259-chr3:142680803..142682548,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-U2SURP-2	chr3:142681797-142681936	ENSG00000241570.4
2	lnc-U2SURP-2	chr3:142681796-142681936	ENSG00000241570.4

No data

Variant related genes	Relation type
U2SURP	TF binding region
PAQR9	TF binding region
ENSG00000241570	TF binding region
ENSG00000175054	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3443662	chr3:142681287-142684135	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3388028	chr3:142681537-142683935	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142679400-142682000	Flanking Active TSS	Liver	Liver
2	chr3:142680600-142682000	Flanking Active TSS	HepG2	liver
3	chr3:142681000-142682000	ZNF genes & repeats	Pancreas	Pancrea
4	chr3:142681000-142683600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr3:142681200-142682000	Flanking Active TSS	Right Ventricle	heart
6	chr3:142681200-142682200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:142681400-142682000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
10	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
11	chr3:142681400-142682000	Bivalent Enhancer	Spleen	Spleen
12	chr3:142681400-142682200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr3:142681400-142683600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:142681400-142683600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:142681400-142683600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr3:142681600-142682000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr3:142681600-142682000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr3:142681600-142682000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
23	chr3:142681600-142682000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:142681600-142682000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
27	chr3:142681600-142682000	Bivalent Enhancer	Esophagus	oesophagus
28	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr3:142681600-142682000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr3:142681600-142682000	Flanking Active TSS	Gastric	stomach
31	chr3:142681600-142682000	Flanking Active TSS	A549	lung
32	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	HMEC	breast
33	chr3:142681600-142682200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:142681600-142682200	Bivalent Enhancer	Lung	lung
35	chr3:142681600-142682200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
36	chr3:142681600-142682400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:142681600-142682600	Bivalent Enhancer	Placenta	Placenta
38	chr3:142681600-142683000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr3:142681600-142683000	Active TSS	Psoas Muscle	Psoas
40	chr3:142681600-142683200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr3:142681600-142683400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:142681600-142683400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
43	chr3:142681600-142683400	Bivalent/Poised TSS	NHEK	skin
44	chr3:142681600-142683600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr3:142681600-142683600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:142681600-142683800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr3:142681800-142682000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:142681800-142682000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:142681800-142682000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:142681800-142682000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung

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