Variant report

Variant	rs568801899
Chromosome Location	chr20:23030409-23030410
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	ELF1	chr20:23030131-23030468	A549	lung:	n/a	n/a
2	STAT3	chr20:23030197-23030911	MCF10A-Er-Src	breast:	n/a	chr20:23030726-23030738
3	SP1	chr20:23029999-23031143	A549	lung:	n/a	chr20:23030510-23030519 chr20:23030570-23030582 chr20:23030921-23030931 chr20:23030572-23030581 chr20:23030921-23030931 chr20:23030941-23030950
4	EP300	chr20:23030072-23030947	A549	lung:	n/a	n/a
5	POLR2A	chr20:23030044-23030639	MCF-7	breast:	n/a	n/a
6	GATA3	chr20:23029869-23030987	A549	lung:	n/a	n/a
7	TAF1	chr20:23030033-23030649	MCF-7	breast:	n/a	n/a
8	MAX	chr20:23029796-23032129	MCF-7	breast:	n/a	chr20:23030590-23030599 chr20:23031318-23031328 chr20:23031389-23031399 chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031320-23031327 chr20:23031778-23031787
9	ELF1	chr20:23030031-23031082	MCF-7	breast:	n/a	n/a
10	FOXA2	chr20:23030167-23031002	A549	lung:	n/a	n/a
11	ELF1	chr20:23030096-23030597	A549	lung:	n/a	n/a
12	CTCF	chr20:23028228-23032075	A549	lung:	n/a	chr20:23031366-23031379 chr20:23031560-23031576 chr20:23031830-23031838 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031234-23031243 chr20:23031559-23031577
13	GABPA	chr20:23029974-23030956	MCF-7	breast:	n/a	chr20:23030572-23030581
14	POLR2A	chr20:23030133-23030574	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr20:23029971-23030751	HUVEC	blood vessel:	n/a	n/a
16	FOS	chr20:23030238-23030679	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr20:23029942-23030638	A549	lung:	n/a	n/a
18	SP1	chr20:23029941-23031015	A549	lung:	n/a	chr20:23030510-23030519 chr20:23030570-23030582 chr20:23030921-23030931 chr20:23030572-23030581 chr20:23030921-23030931 chr20:23030941-23030950
19	SIN3AK20	chr20:23029921-23031970	MCF-7	breast:	n/a	n/a
20	E2F6	chr20:23028379-23031355	A549	lung:	n/a	chr20:23031128-23031138 chr20:23028538-23028546
21	EP300	chr20:23029985-23030975	A549	lung:	n/a	n/a
22	MAX	chr20:23030315-23030593	Hela-S3	cervix:	n/a	n/a
23	HA-E2F1	chr20:23029960-23031217	MCF-7	breast:	n/a	chr20:23031128-23031138
24	HDAC2	chr20:23029884-23032020	MCF-7	breast:	n/a	chr20:23030787-23030806 chr20:23030366-23030380 chr20:23030629-23030643
25	ELF1	chr20:23029967-23031958	MCF-7	breast:	n/a	n/a
26	REST	chr20:23030000-23031408	A549	lung:	n/a	chr20:23030990-23031003
27	TCF12	chr20:23027859-23031824	A549	lung:	n/a	n/a
28	PML	chr20:23029987-23030574	MCF-7	breast:	n/a	n/a
29	MYC	chr20:23030123-23031970	MCF10A-Er-Src	breast:	n/a	chr20:23030590-23030599 chr20:23031318-23031328 chr20:23031389-23031399 chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031320-23031327 chr20:23031778-23031787
30	E2F4	chr20:23030201-23030633	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr20:23029863-23030608	A549	lung:	n/a	n/a
32	FOSL2	chr20:23030187-23031007	MCF-7	breast:	n/a	chr20:23030667-23030681
33	TAF1	chr20:23029988-23031046	A549	lung:	n/a	n/a
34	GABPA	chr20:23030130-23030504	A549	lung:	n/a	n/a
35	ATF3	chr20:23030367-23030822	A549	lung:	n/a	n/a
36	MYC	chr20:23030215-23031840	MCF10A-Er-Src	breast:	n/a	chr20:23030590-23030599 chr20:23031318-23031328 chr20:23031389-23031399 chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031320-23031327 chr20:23031778-23031787
37	POLR2A	chr20:23029204-23031937	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr20:23030297-23030608	MCF10A-Er-Src	breast:	n/a	n/a
39	REST	chr20:23030051-23030474	A549	lung:	n/a	n/a
40	ZNF263	chr20:23030057-23032114	HEK293-T-REx	kidney:	n/a	n/a
41	CTCF	chr20:23030340-23030490	HEEpiC	esophagus:	n/a	n/a
42	MAX	chr20:23028748-23032073	MCF-7	breast:	n/a	chr20:23030590-23030599 chr20:23031318-23031328 chr20:23031389-23031399 chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031320-23031327 chr20:23031778-23031787
43	MAX	chr20:23029860-23030651	H1-hESC	embryonic stem cell:	n/a	chr20:23030590-23030599
44	POLR2A	chr20:23028661-23031349	MCF-7	breast:	n/a	n/a
45	TAF1	chr20:23029989-23030910	MCF-7	breast:	n/a	n/a
46	ATF3	chr20:23030392-23030964	A549	lung:	n/a	n/a
47	E2F6	chr20:23029876-23030617	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr20:23030293-23032465	NB4	blood:	n/a	chr20:23030590-23030599 chr20:23031318-23031328 chr20:23031389-23031399 chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031320-23031327 chr20:23031778-23031787
49	ETS1	chr20:23030127-23030555	A549	lung:	n/a	chr20:23030374-23030388
50	STAT3	chr20:23030134-23030923	MCF10A-Er-Src	breast:	n/a	chr20:23030726-23030738

No.	Distal block	Cell Line	Cell type
1	chr20:23029557..23031432-chr20:23330980..23333181,2	MCF-7	breast:
2	chr20:23029838..23032400-chr20:23167323..23168960,2	MCF-7	breast:
3	chr20:23017212..23020123-chr20:23028174..23031939,4	MCF-7	breast:
4	chr20:23029084..23031719-chr20:23329992..23332006,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-8	chr20:23030380-23035547	NONHSAT079029

Variant related genes	Relation type
THBD	TF binding region
ENSG00000230387	Chromatin interaction
ENSG00000132661	Chromatin interaction
ENSG00000234832	Chromatin interaction
ENSG00000234646	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23024600-23031400	Weak transcription	K562	blood
2	chr20:23026000-23032400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr20:23026800-23032000	Active TSS	Left Ventricle	heart
4	chr20:23027400-23031800	Active TSS	Right Atrium	heart
5	chr20:23027400-23032400	Active TSS	Placenta Amnion	Placenta Amnion
6	chr20:23027600-23031800	Active TSS	HSMM	muscle
7	chr20:23027800-23031200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr20:23028000-23031200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:23028000-23031600	Active TSS	HSMMtube	muscle
10	chr20:23028000-23032200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr20:23028000-23032800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr20:23028200-23030600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
13	chr20:23028200-23030800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
14	chr20:23028200-23031000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr20:23028200-23031200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:23028200-23031200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr20:23028200-23031200	Flanking Active TSS	HUVEC	blood vessel
18	chr20:23028200-23032000	Flanking Active TSS	HMEC	breast
19	chr20:23028200-23032400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr20:23028200-23032600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr20:23028400-23031200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr20:23028400-23031400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:23028400-23031600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr20:23028400-23032000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr20:23028400-23032200	Active TSS	Aorta	Aorta
26	chr20:23028600-23030800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr20:23028600-23032000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr20:23028600-23032200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr20:23028600-23032200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr20:23028600-23032200	Bivalent/Poised TSS	Thymus	Thymus
31	chr20:23028800-23030600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:23028800-23032200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr20:23028800-23032200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
34	chr20:23028800-23032400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr20:23029000-23030600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:23029000-23030600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr20:23029000-23032200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr20:23029200-23030600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:23029200-23030800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr20:23029200-23031000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr20:23029200-23031000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr20:23029200-23031200	Bivalent Enhancer	Fetal Brain Male	brain
43	chr20:23029200-23031200	Flanking Active TSS	Spleen	Spleen
44	chr20:23029200-23031600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
45	chr20:23029200-23031600	Active TSS	NHDF-Ad	bronchial
46	chr20:23029200-23031800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr20:23029200-23031800	Active TSS	Ovary	ovary
48	chr20:23029200-23032200	Active TSS	Stomach Mucosa	stomach
49	chr20:23029200-23032200	Active TSS	A549	lung
50	chr20:23029200-23033200	Active TSS	Psoas Muscle	Psoas

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