Variant report

Variant	rs2762937
Chromosome Location	chr20:52778025-52778026
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	FOXA2	chr20:52777619-52778277	A549	lung:	n/a	n/a
2	PBX3	chr20:52776471-52778032	A549	lung:	n/a	n/a
3	SIX5	chr20:52776173-52778883	A549	lung:	n/a	n/a
4	ETS1	chr20:52776418-52778792	A549	lung:	n/a	chr20:52777170-52777181
5	SP1	chr20:52776422-52778640	A549	lung:	n/a	n/a
6	GATA3	chr20:52776064-52785298	A549	lung:	n/a	chr20:52778354-52778363 chr20:52778722-52778732 chr20:52778722-52778731 chr20:52776796-52776806 chr20:52779429-52779436
7	BCL3	chr20:52776372-52780600	A549	lung:	n/a	n/a
8	EP300	chr20:52776353-52779260	A549	lung:	n/a	chr20:52778335-52778349 chr20:52776639-52776649
9	JUND	chr20:52777068-52779163	A549	lung:	n/a	n/a
10	ELF1	chr20:52777106-52778753	A549	lung:	n/a	chr20:52777166-52777177
11	ATF3	chr20:52776184-52780419	A549	lung:	n/a	n/a
12	TCF12	chr20:52772200-52791801	A549	lung:	n/a	chr20:52790233-52790240 chr20:52786044-52786053 chr20:52779960-52779969 chr20:52790231-52790241
13	YY1	chr20:52777466-52778322	A549	lung:	n/a	n/a
14	POLR2A	chr20:52770188-52790693	A549	lung:	n/a	n/a
15	POLR2A	chr20:52777236-52778185	A549	lung:	n/a	n/a
16	BCL3	chr20:52772170-52791941	A549	lung:	n/a	chr20:52790491-52790504 chr20:52782584-52782593 chr20:52784755-52784763 chr20:52790858-52790871 chr20:52790857-52790870 chr20:52782583-52782592
17	ZBTB33	chr20:52777098-52779675	A549	lung:	n/a	chr20:52778349-52778356
18	FOXA2	chr20:52777742-52778195	A549	lung:	n/a	n/a
19	POLR2A	chr20:52777209-52778660	A549	lung:	n/a	n/a
20	SP1	chr20:52776070-52780119	A549	lung:	n/a	n/a
21	FOSL2	chr20:52776040-52778851	A549	lung:	n/a	n/a
22	USF1	chr20:52777078-52780594	A549	lung:	n/a	n/a
23	TEAD4	chr20:52776089-52778766	A549	lung:	n/a	n/a
24	REST	chr20:52776024-52780596	A549	lung:	n/a	chr20:52779089-52779102 chr20:52776978-52776985
25	MAX	chr20:52776354-52779331	A549	lung:	n/a	chr20:52776994-52777003 chr20:52777345-52777353
26	JUND	chr20:52776887-52778717	A549	lung:	n/a	n/a
27	SIN3AK20	chr20:52777851-52778488	A549	lung:	n/a	n/a
28	EP300	chr20:52776415-52778629	A549	lung:	n/a	chr20:52778335-52778349 chr20:52776639-52776649
29	TCF12	chr20:52776776-52778557	A549	lung:	n/a	n/a
30	SIN3AK20	chr20:52776510-52778221	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:52777680..52779667-chr20:55840220..55842297,2	MCF-7	breast:
2	chr17:56707725..56710299-chr20:52776284..52779199,4	MCF-7	breast:
3	chr10:8091822..8093812-chr20:52777896..52779410,2	MCF-7	breast:

Variant related genes	Relation type
CYP24A1	TF binding region
ENSG00000232638	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2762934	0.81[EUR][1000 genomes]
rs751088	0.85[EUR][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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1058882	chr20:52765979-52794372	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52768800-52790200	Transcr. at gene 5' and 3'	A549	lung
2	chr20:52769200-52789400	Weak transcription	Esophagus	oesophagus
3	chr20:52769600-52785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:52771200-52779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:52771200-52786000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:52777200-52778200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:52777600-52778800	Enhancers	HepG2	liver
8	chr20:52777800-52784800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:52778000-52779000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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