Variant report

Variant	rs569493159
Chromosome Location	chr20:23168714-23168715
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	CTCF	chr20:23168640-23168790	HMEC	breast:	n/a	chr20:23168746-23168759
2	MAFK	chr20:23168427-23168778	Hela-S3	cervix:	n/a	chr20:23168625-23168636 chr20:23168624-23168639
3	GATA3	chr20:23168316-23168731	MCF-7	breast:	n/a	n/a
4	POLR2A	chr20:23168483-23168772	U87	brain:	n/a	n/a
5	SMC3	chr20:23168360-23168824	Hela-S3	cervix:	n/a	chr20:23168749-23168759 chr20:23168425-23168432 chr20:23168650-23168657
6	CTCF	chr20:23168660-23168810	HEEpiC	esophagus:	n/a	chr20:23168746-23168759
7	BRCA1	chr20:23168432-23168802	Hela-S3	cervix:	n/a	n/a
8	MAX	chr20:23168430-23168770	Hela-S3	cervix:	n/a	chr20:23168753-23168763
9	POLR2A	chr20:23168358-23168861	MCF10A-Er-Src	breast:	n/a	n/a
10	CTCF	chr20:23168600-23168750	NHEK	skin:	n/a	n/a
11	CTCF	chr20:23168600-23168750	HMEC	breast:	n/a	n/a
12	RCOR1	chr20:23168512-23168742	Hela-S3	cervix:	n/a	n/a
13	HA-E2F1	chr20:23168262-23169816	MCF-7	breast:	n/a	chr20:23168548-23168557
14	RAD21	chr20:23168400-23168756	Hela-S3	cervix:	n/a	n/a
15	MYC	chr20:23168457-23168725	MCF10A-Er-Src	breast:	n/a	n/a
16	RFX5	chr20:23168405-23168742	Hela-S3	cervix:	n/a	chr20:23168626-23168634

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23029838..23032400-chr20:23167323..23168960,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD93-3	chr20:23168344-23169272	XLOC_013690
2	lnc-SSTR4-2	chr20:23168598-23170942	NONHSAT079044
3	lnc-SSTR4-2	chr20:23168699-23168795	NONHSAT079045

Variant related genes	Relation type
ENSG00000230387	TF binding region
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2756735	chr20:23146607-23179604	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2760681	chr20:23165015-23174394	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3329958	chr20:23167152-23171550	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3425924	chr20:23167652-23170850	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3444061	chr20:23167852-23170950	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv965935	chr20:23168139-23175404	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3454220	chr20:23168207-23176428	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv3454221	chr20:23168245-23176414	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3521213	chr20:23168248-23176382	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv3521215	chr20:23168249-23176399	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv3454222	chr20:23168272-23176425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	esv3454223	chr20:23168278-23176396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv3454224	chr20:23168278-23176396	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	esv3521214	chr20:23168280-23176368	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv3521216	chr20:23168280-23176382	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv179251	chr20:23168344-23176309	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23162000-23174200	Weak transcription	Left Ventricle	heart
2	chr20:23167200-23170000	Weak transcription	Gastric	stomach
3	chr20:23167400-23169000	Enhancers	Stomach Mucosa	stomach
4	chr20:23167600-23169400	Enhancers	Fetal Muscle Leg	muscle
5	chr20:23167800-23169600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr20:23168000-23168800	Enhancers	Right Ventricle	heart
7	chr20:23168000-23169000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr20:23168200-23168800	Enhancers	Psoas Muscle	Psoas
9	chr20:23168200-23169200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr20:23168400-23168800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr20:23168400-23168800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr20:23168400-23169200	Enhancers	Duodenum Mucosa	Duodenum
13	chr20:23168400-23169400	Flanking Active TSS	Hela-S3	cervix
14	chr20:23168400-23169800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
15	chr20:23168600-23168800	Flanking Active TSS	Placenta	Placenta
16	chr20:23168600-23168800	Flanking Active TSS	HSMMtube	muscle
17	chr20:23168600-23169000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:23168600-23169000	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr20:23168600-23169200	Flanking Active TSS	Esophagus	oesophagus
20	chr20:23168600-23169400	Enhancers	HSMM	muscle
21	chr20:23168600-23169800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr20:23168600-23170000	Enhancers	Pancreas	Pancrea
23	chr20:23168600-23170800	Enhancers	Lung	lung

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