Variant report

Variant	rs56984226
Chromosome Location	chr19:55863704-55863705
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	POLR2A	chr19:55863656-55863734	MCF-7	breast:	n/a	n/a
2	FOS	chr19:55863356-55863792	MCF10A-Er-Src	breast:	n/a	chr19:55863480-55863488
3	POLR2A	chr19:55863294-55863711	HCT-116	colon:	n/a	n/a
4	FOS	chr19:55863444-55863808	MCF10A-Er-Src	breast:	n/a	chr19:55863480-55863488
5	STAT3	chr19:55863375-55863720	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr19:55863431-55863776	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr19:55863180-55863760	MCF-7	breast:	n/a	n/a
8	RAD21	chr19:55863399-55864161	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:55863163-55863801	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr19:55863390-55863807	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr19:55863471-55863792	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:55862325-55864224	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAZ	chr19:55863414-55864020	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr19:55863471-55863758	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:55863377-55864063	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr19:55863625-55863818	MCF-7	breast:	n/a	n/a
17	CEBPB	chr19:55863375-55863823	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:55862963-55863720	K562	blood:	n/a	n/a
19	POLR2A	chr19:55861598-55863874	PANC-1	pancreas:	n/a	n/a
20	FOS	chr19:55863337-55863823	MCF10A-Er-Src	breast:	n/a	chr19:55863480-55863488
21	POLR2A	chr19:55863624-55863790	GM12878	blood:	n/a	n/a
22	MYC	chr19:55863407-55863793	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr19:55863254-55863889	Hela-S3	cervix:	n/a	n/a
24	EP300	chr19:55863342-55863856	Hela-S3	cervix:	n/a	n/a
25	SMC3	chr19:55863352-55864110	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr19:55863147-55863779	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr19:55861626-55864586	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr19:55861635-55863781	K562	blood:	n/a	n/a
29	POLR2A	chr19:55861454-55864221	K562	blood:	n/a	n/a
30	POLR2A	chr19:55863200-55863959	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr19:55863264-55863821	Hela-S3	cervix:	n/a	n/a
32	MAX	chr19:55863415-55863803	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55861836..55864418-chr19:55872988..55875222,3	K562	blood:
2	chr19:55823194..55826152-chr19:55862639..55864408,2	MCF-7	breast:
3	chr19:55863699..55867009-chr19:55895864..55899065,4	MCF-7	breast:
4	chr19:55862642..55868480-chr19:55895176..55899926,10	K562	blood:

Variant related genes	Relation type
COX6B2	TF binding region
ENSG00000180043	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000268729	Chromatin interaction
ENSG00000108107	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73607034	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607042	1.00[AMR][1000 genomes]
rs73607046	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
7	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
11	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
12	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
13	esv1799638	chr19:55850652-55883879	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
14	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
15	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55853400-55864800	Weak transcription	Right Atrium	heart
2	chr19:55857800-55864200	Weak transcription	HSMMtube	muscle
3	chr19:55857800-55864600	Weak transcription	K562	blood
4	chr19:55858800-55864800	Weak transcription	Ovary	ovary
5	chr19:55860000-55864600	Weak transcription	Pancreas	Pancrea
6	chr19:55862400-55864200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:55862400-55864600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:55862600-55864600	Enhancers	Hela-S3	cervix
9	chr19:55862800-55864800	Enhancers	HMEC	breast
10	chr19:55863000-55864400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:55863200-55864600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:55863200-55864800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:55863200-55864800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr19:55863200-55865000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:55863200-55865000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr19:55863200-55865800	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr19:55863400-55863800	Bivalent Enhancer	A549	lung
18	chr19:55863400-55864000	ZNF genes & repeats	Spleen	Spleen
19	chr19:55863400-55864800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
20	chr19:55863400-55864800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr19:55863600-55863800	Bivalent Enhancer	Small Intestine	intestine
22	chr19:55863600-55863800	Bivalent Enhancer	HSMM	muscle
23	chr19:55863600-55864000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:55863600-55864000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:55863600-55864200	Bivalent Enhancer	HepG2	liver
26	chr19:55863600-55864400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr19:55863600-55864600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
28	chr19:55863600-55864800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr19:55863600-55865000	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr19:55863600-55865000	Bivalent Enhancer	Fetal Intestine Small	intestine

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