Variant report

Variant	rs73115793
Chromosome Location	chr20:29611470-29611471
allele	C/G/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	POLR2A	chr20:29610805-29612449	K562	blood:	n/a	n/a
2	TAF1	chr20:29611464-29612400	SK-N-SH	brain:	n/a	n/a
3	CBX3	chr20:29610759-29612458	K562	blood:	n/a	n/a
4	BHLHE40	chr20:29610925-29612439	K562	blood:	n/a	chr20:29611694-29611710 chr20:29611686-29611702
5	POLR2A	chr20:29611099-29612401	A549	lung:	n/a	n/a
6	ELF1	chr20:29611351-29612187	HCT-116	colon:	n/a	n/a
7	KAP1	chr20:29611137-29611567	K562	blood:	n/a	chr20:29611175-29611183
8	JUND	chr20:29611117-29612572	K562	blood:	n/a	chr20:29611833-29611842 chr20:29611838-29611847 chr20:29611832-29611841 chr20:29611836-29611845 chr20:29612436-29612445 chr20:29611837-29611846 chr20:29611839-29611848 chr20:29611835-29611844
9	POLR2A	chr20:29610824-29612470	PANC-1	pancreas:	n/a	n/a
10	EP300	chr20:29611190-29611629	GM12878	blood:	n/a	chr20:29611577-29611593 chr20:29611492-29611501
11	POLR2A	chr20:29611431-29612428	K562	blood:	n/a	n/a
12	MAX	chr20:29611009-29612352	K562	blood:	n/a	chr20:29611840-29611850
13	THAP1	chr20:29611175-29611724	K562	blood:	n/a	n/a
14	POLR2A	chr20:29609499-29613259	GM12892	blood:	n/a	n/a
15	ZBTB33	chr20:29609453-29612585	K562	blood:	n/a	n/a
16	POLR2A	chr20:29611456-29611760	ECC-1	luminal epithelium:	n/a	n/a
17	RCOR1	chr20:29611368-29611793	GM12878	blood:	n/a	n/a
18	MAZ	chr20:29610923-29612179	HepG2	liver:	n/a	chr20:29611840-29611850
19	MAX	chr20:29611249-29612130	HCT-116	colon:	n/a	chr20:29611840-29611850
20	JUND	chr20:29611086-29612126	A549	lung:	n/a	chr20:29611833-29611842 chr20:29611838-29611847 chr20:29611832-29611841 chr20:29611836-29611845 chr20:29611837-29611846 chr20:29611839-29611848 chr20:29611835-29611844
21	CTCF	chr20:29611380-29611530	GM12874	blood:	n/a	n/a
22	NR2F2	chr20:29610867-29612670	K562	blood:	n/a	n/a
23	POLR2A	chr20:29611165-29612370	K562	blood:	n/a	n/a
24	ZNF384	chr20:29611181-29611486	GM12878	blood:	n/a	n/a
25	MXI1	chr20:29611069-29612188	K562	blood:	n/a	n/a
26	TAF1	chr20:29611075-29612429	GM12891	blood:	n/a	n/a
27	CEBPB	chr20:29611198-29611862	K562	blood:	n/a	n/a
28	ETS1	chr20:29611385-29612412	K562	blood:	n/a	chr20:29611836-29611847 chr20:29611831-29611842 chr20:29611837-29611848 chr20:29611839-29611850 chr20:29611488-29611501 chr20:29611834-29611845
29	POLR2A	chr20:29611190-29612432	K562	blood:	n/a	n/a
30	ZBTB7A	chr20:29611221-29611817	K562	blood:	n/a	n/a
31	CEBPD	chr20:29611432-29612481	K562	blood:	n/a	n/a
32	POLR2A	chr20:29611177-29612365	Gliobla	brain:	n/a	n/a
33	SP2	chr20:29611073-29611537	K562	blood:	n/a	n/a
34	SIN3AK20	chr20:29611465-29612435	K562	blood:	n/a	n/a
35	CTCF	chr20:29611360-29611510	AoAF	blood vessel:	n/a	n/a
36	POLR2A	chr20:29611239-29612457	PANC-1	pancreas:	n/a	n/a
37	JUN	chr20:29610541-29613056	K562	blood:	n/a	chr20:29611833-29611842 chr20:29611838-29611847 chr20:29611832-29611841 chr20:29611836-29611845 chr20:29612436-29612445 chr20:29611837-29611846 chr20:29611839-29611848 chr20:29611835-29611844
38	TAF1	chr20:29611182-29612404	K562	blood:	n/a	n/a
39	GABPA	chr20:29611427-29612475	SK-N-SH	brain:	n/a	chr20:29611831-29611840
40	POLR2A	chr20:29611154-29612413	GM12878	blood:	n/a	n/a
41	POLR2A	chr20:29611012-29612478	GM12891	blood:	n/a	n/a
42	EBF1	chr20:29611386-29611696	GM12878	blood:	n/a	n/a
43	UBTF	chr20:29611028-29612487	K562	blood:	n/a	n/a
44	CHD2	chr20:29611193-29612346	HepG2	liver:	n/a	chr20:29611829-29611839
45	POLR2A	chr20:29611470-29611818	A549	lung:	n/a	n/a
46	POLR2A	chr20:29610580-29612549	GM12891	blood:	n/a	n/a
47	SIN3AK20	chr20:29611351-29612356	MCF-7	breast:	n/a	n/a
48	POLR2A	chr20:29611358-29612155	K562	blood:	n/a	n/a
49	POLR2A	chr20:29611351-29612167	H1-hESC	embryonic stem cell:	n/a	n/a
50	SETDB1	chr20:29610979-29612470	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:29610673..29612888-chr4:190860203..190862511,3	MCF-7	breast:
2	chr20:29610649..29612158-chr9:68453830..68455817,2	K562	blood:
3	chr20:29609593..29613129-chr4:190859723..190863221,5	K562	blood:
4	chr20:29611128..29612321-chr4:190861463..190862739,6	MCF-7	breast:
5	chr20:29611070..29612139-chr9:68455176..68456091,3	K562	blood:
6	chr20:29611427..29612170-chr9:68454810..68455955,3	MCF-7	breast:
7	chr20:29611333..29614057-chr4:190860675..190863034,4	MCF-7	breast:
8	chr20:29611384..29612018-chr9:68455093..68455961,3	MCF-7	breast:
9	chr2:133109798..133110355-chr20:29611407..29612129,2	MCF-7	breast:
10	chr20:29610847..29613187-chr4:190860454..190862227,2	K562	blood:
11	chr20:29611467..29612118-chr9:68454964..68455886,2	MCF-7	breast:
12	chr20:29611333..29612723-chr4:190861521..190862825,5	HCT-116	colon:
13	chr20:29611329..29612191-chr9:68455368..68456077,2	MCF-7	breast:

Variant related genes	Relation type
FRG1B	TF binding region
ENSG00000245685	Chromatin interaction
ENSG00000109536	Chromatin interaction
ENSG00000230992	Chromatin interaction
ENSG00000215548	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6057178	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60682855	1.00[AFR][1000 genomes]
rs73117328	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]

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	esv2758518	chr20:29419570-29653908	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2758791	chr20:29419570-29653908	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	nsv428028	chr20:29419570-29653908	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv428376	chr20:29419570-29653908	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1062766	chr20:29420340-29635454	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv833950	chr20:29472154-29638425	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1058387	chr20:29479828-29651199	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv2756736	chr20:29493193-29630695	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1067193	chr20:29525410-29651199	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv11674	chr20:29528011-29653880	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv965870	chr20:29570138-29652376	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3359503	chr20:29579591-29639989	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3336027	chr20:29579691-29639889	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3337149	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv3343795	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3380005	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	esv3441285	chr20:29579691-29639889	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	esv15335	chr20:29580700-29653880	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv585870	chr20:29603773-29648195	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29609400-29614200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr20:29609600-29612400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:29610600-29614800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:29610600-29614800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr20:29610800-29611600	Flanking Active TSS	K562	blood
6	chr20:29610800-29611800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr20:29610800-29612400	Active TSS	Fetal Heart	heart
8	chr20:29610800-29612400	ZNF genes & repeats	Spleen	Spleen
9	chr20:29610800-29612600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
10	chr20:29610800-29612600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:29610800-29612600	ZNF genes & repeats	Gastric	stomach
12	chr20:29610800-29612800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr20:29610800-29612800	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr20:29610800-29613000	ZNF genes & repeats	Fetal Stomach	stomach
15	chr20:29610800-29613400	ZNF genes & repeats	HMEC	breast
16	chr20:29610800-29613400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr20:29610800-29613600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr20:29610800-29613600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr20:29610800-29613600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
20	chr20:29610800-29613600	ZNF genes & repeats	Fetal Brain Male	brain
21	chr20:29610800-29614800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr20:29610800-29614800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr20:29611000-29611600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:29611000-29611600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
25	chr20:29611000-29611600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr20:29611000-29611600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
27	chr20:29611000-29611600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr20:29611000-29611600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr20:29611000-29611600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
30	chr20:29611000-29611600	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
31	chr20:29611000-29611600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr20:29611000-29611600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr20:29611000-29611600	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr20:29611000-29611600	ZNF genes & repeats	HSMM	muscle
35	chr20:29611000-29611600	ZNF genes & repeats	HUVEC	blood vessel
36	chr20:29611000-29611600	Flanking Active TSS	NH-A	brain
37	chr20:29611000-29611600	Flanking Bivalent TSS/Enh	NHEK	skin
38	chr20:29611000-29611600	ZNF genes & repeats	NHLF	lung
39	chr20:29611000-29611600	ZNF genes & repeats	Osteobl	bone
40	chr20:29611000-29611800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr20:29611000-29612400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr20:29611000-29612400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr20:29611000-29612400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr20:29611000-29612400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr20:29611000-29612400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr20:29611000-29612400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
47	chr20:29611000-29612400	ZNF genes & repeats	Liver	Liver
48	chr20:29611000-29612400	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr20:29611000-29612400	ZNF genes & repeats	Colonic Mucosa	Colon
50	chr20:29611000-29612400	ZNF genes & repeats	Thymus	Thymus

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