Variant report

Variant	rs3176130
Chromosome Location	chr20:23031656-23031657
allele	A/G
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	GTF2B	chr20:23031625-23032229	K562	blood:	n/a	n/a
2	POLR2A	chr20:23031539-23032448	K562	blood:	n/a	n/a
3	POLR2A	chr20:23031480-23032310	K562	blood:	n/a	n/a
4	POLR2A	chr20:23031411-23032351	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr20:23031461-23031661	GM13976	blood:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
6	MAX	chr20:23031358-23031918	SK-N-SH	brain:	n/a	chr20:23031389-23031399 chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031778-23031787
7	CTCF	chr20:23031520-23031670	HCT-116	colon:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
8	POLR2A	chr20:23031529-23031844	H1-hESC	embryonic stem cell:	n/a	n/a
9	HA-E2F1	chr20:23031513-23032065	MCF-7	breast:	n/a	n/a
10	CTCF	chr20:23031472-23031668	LNCaP	prostate:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
11	RAD21	chr20:23031363-23031848	SK-N-SH_RA	brain:	n/a	chr20:23031560-23031579 chr20:23031565-23031577 chr20:23031563-23031576 chr20:23031565-23031575
12	YY1	chr20:23031438-23031723	GM12878	blood:	n/a	chr20:23031568-23031577
13	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
14	BHLHE40	chr20:23031541-23031784	GM12878	blood:	n/a	n/a
15	CTCF	chr20:23031406-23031858	K562	blood:	n/a	chr20:23031560-23031576 chr20:23031830-23031838 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
16	FOS	chr20:23031413-23031735	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr20:23031491-23031661	HepG2	liver:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
18	CTCF	chr20:23031452-23031710	MCF-7	breast:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
19	CTCF	chr20:23031455-23031740	HepG2	liver:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
20	CTCF	chr20:23031520-23031670	MCF-7	breast:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
21	TBL1XR1	chr20:23031482-23031798	K562	blood:	n/a	n/a
22	MAX	chr20:23031490-23032079	K562	blood:	n/a	chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031778-23031787
23	MAX	chr20:23031469-23031926	H1-hESC	embryonic stem cell:	n/a	chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031778-23031787
24	YY1	chr20:23031409-23032364	K562	blood:	n/a	chr20:23031568-23031577 chr20:23031905-23031916 chr20:23032203-23032217
25	MAFK	chr20:23031557-23031876	K562	blood:	n/a	n/a
26	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
27	NR2F2	chr20:23031435-23031854	K562	blood:	n/a	n/a
28	CTCF	chr20:23031382-23031743	A549	lung:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
29	CTCF	chr20:23031455-23031670	MCF-7	breast:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
30	BACH1	chr20:23030812-23031949	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr20:23031560-23031710	A549	lung:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574
32	RAD21	chr20:23031396-23031863	H1-hESC	embryonic stem cell:	n/a	chr20:23031560-23031579 chr20:23031565-23031577 chr20:23031563-23031576 chr20:23031565-23031575
33	CTCF	chr20:23031359-23031803	H1-hESC	embryonic stem cell:	n/a	chr20:23031366-23031379 chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
34	TAF1	chr20:23031504-23031776	K562	blood:	n/a	n/a
35	CTCF	chr20:23031430-23031750	NHEK	skin:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
36	YY1	chr20:23031482-23031855	H1-hESC	embryonic stem cell:	n/a	chr20:23031568-23031577
37	CTCF	chr20:23031451-23031681	Kidney_OC	kidney:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
38	CTCF	chr20:23031419-23031729	Gliobla	brain:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
39	EP300	chr20:23031573-23031805	GM12878	blood:	n/a	chr20:23031752-23031766
40	CTCF	chr20:23031353-23031768	H1-hESC	embryonic stem cell:	n/a	chr20:23031366-23031379 chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
41	MYC	chr20:23031452-23031975	K562	blood:	n/a	chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031778-23031787
42	CTCF	chr20:23031520-23031670	AG10803	skin:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
43	RAD21	chr20:23031479-23031709	HepG2	liver:	n/a	chr20:23031560-23031579 chr20:23031565-23031577 chr20:23031563-23031576 chr20:23031565-23031575
44	CTCF	chr20:23031450-23031722	H1-hESC	embryonic stem cell:	n/a	chr20:23031560-23031576 chr20:23031562-23031575 chr20:23031564-23031574 chr20:23031559-23031577
45	SIN3AK20	chr20:23029921-23031970	MCF-7	breast:	n/a	n/a
46	MYC	chr20:23031450-23032056	K562	blood:	n/a	chr20:23031779-23031786 chr20:23031778-23031787 chr20:23031778-23031787
47	MXI1	chr20:23031276-23032130	IMR90	lung:	n/a	chr20:23031318-23031327
48	JUN	chr20:23031508-23031752	K562	blood:	n/a	n/a
49	POLR2A	chr20:23031440-23032361	K562	blood:	n/a	n/a
50	RCOR1	chr20:23031530-23032238	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23031208..23032065-chr20:23181288..23182112,3	MCF-7	breast:
2	chr20:23031576..23035125-chr20:23112541..23115430,6	K562	blood:
3	chr20:23031306..23034005-chr20:23046124..23048629,2	MCF-7	breast:
4	chr20:23031211..23032253-chr20:23320806..23321356,3	K562	blood:
5	chr20:23031492..23032347-chr20:23180782..23182215,4	K562	blood:
6	chr20:23029838..23032400-chr20:23167323..23168960,2	MCF-7	breast:
7	chr20:23027006..23030975-chr20:23031507..23034254,5	MCF-7	breast:
8	chr10:104210277..104210780-chr20:23031446..23031946,2	NB4	blood:
9	chr20:23030735..23032362-chr20:23272599..23275068,2	K562	blood:
10	chr20:23031123..23031990-chr20:23215759..23216515,5	K562	blood:
11	chr20:23017212..23020123-chr20:23028174..23031939,4	MCF-7	breast:
12	chr20:23031273..23031851-chr20:23181325..23181849,2	MCF-7	breast:
13	chr20:23029084..23031719-chr20:23329992..23332006,2	K562	blood:
14	chr20:23031307..23031875-chr20:23320841..23321533,2	MCF-7	breast:
15	chr20:23031208..23032750-chr20:23180279..23182634,2	MCF-7	breast:
16	chr20:22900076..22901854-chr20:23030936..23032501,2	MCF-7	breast:
17	chr20:23030571..23033059-chr20:23188435..23191076,2	MCF-7	breast:
18	chr20:23025165..23029019-chr20:23031172..23033319,4	K562	blood:
19	chr20:23030735..23033607-chr20:23271363..23275068,3	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
ENSG00000234646	Chromatin interaction
ENSG00000132661	Chromatin interaction
ENSG00000269609	Chromatin interaction
ENSG00000233746	Chromatin interaction
ENSG00000230387	Chromatin interaction
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13306849	0.81[ASN][1000 genomes]

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

Variant related diseases (count:1)

Disease	PMID	Source
PR interval in Tripanosoma cruzi seropositivity	24324551	GWAS catalog

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23026000-23032400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr20:23026800-23032000	Active TSS	Left Ventricle	heart
3	chr20:23027400-23031800	Active TSS	Right Atrium	heart
4	chr20:23027400-23032400	Active TSS	Placenta Amnion	Placenta Amnion
5	chr20:23027600-23031800	Active TSS	HSMM	muscle
6	chr20:23028000-23032200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
7	chr20:23028000-23032800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr20:23028200-23032000	Flanking Active TSS	HMEC	breast
9	chr20:23028200-23032400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr20:23028200-23032600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr20:23028400-23032000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:23028400-23032200	Active TSS	Aorta	Aorta
13	chr20:23028600-23032000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr20:23028600-23032200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr20:23028600-23032200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr20:23028600-23032200	Bivalent/Poised TSS	Thymus	Thymus
17	chr20:23028800-23032200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr20:23028800-23032200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
19	chr20:23028800-23032400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr20:23029000-23032200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr20:23029200-23031800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:23029200-23031800	Active TSS	Ovary	ovary
23	chr20:23029200-23032200	Active TSS	Stomach Mucosa	stomach
24	chr20:23029200-23032200	Active TSS	A549	lung
25	chr20:23029200-23033200	Active TSS	Psoas Muscle	Psoas
26	chr20:23029400-23032200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr20:23029400-23032400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr20:23029400-23032400	Active TSS	Gastric	stomach
29	chr20:23029400-23032600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr20:23029600-23032200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr20:23029800-23031800	Active TSS	Esophagus	oesophagus
32	chr20:23029800-23032200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr20:23029800-23032400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:23030000-23032400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr20:23030000-23032400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr20:23030200-23032000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
37	chr20:23030200-23032200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
38	chr20:23030200-23032400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr20:23030200-23032400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr20:23030400-23031800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr20:23030400-23031800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr20:23030400-23032200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
43	chr20:23030400-23032400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr20:23030400-23032600	Flanking Active TSS	NH-A	brain
45	chr20:23030600-23032400	Active TSS	NHLF	lung
46	chr20:23030800-23032000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr20:23030800-23032200	Active TSS	NHEK	skin
48	chr20:23030800-23032400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr20:23031000-23031800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr20:23031000-23032200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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