Variant report

Variant	rs73935321
Chromosome Location	chr19:55692414-55692415
allele	C/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	REST	chr19:55690261-55692603	PANC-1	pancreas:	n/a	chr19:55691568-55691588 chr19:55692420-55692429 chr19:55691592-55691605 chr19:55691568-55691588 chr19:55691574-55691588 chr19:55691568-55691581 chr19:55691576-55691586 chr19:55691571-55691584 chr19:55691455-55691468 chr19:55691568-55691588 chr19:55691571-55691584 chr19:55691569-55691587 chr19:55691568-55691577
2	REST	chr19:55692335-55692587	SK-N-SH	brain:	n/a	chr19:55692420-55692429
3	MXI1	chr19:55689999-55692497	IMR90	lung:	n/a	chr19:55690830-55690845 chr19:55690811-55690826 chr19:55690832-55690847 chr19:55690813-55690828
4	POLR2A	chr19:55690850-55692576	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:55692142-55692655	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:55692306-55693566	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:55691176-55693491	K562	blood:	n/a	n/a
8	POLR2A	chr19:55690353-55692659	PANC-1	pancreas:	n/a	n/a
9	REST	chr19:55690331-55692527	HL-60	blood:	n/a	chr19:55691568-55691588 chr19:55692420-55692429 chr19:55691592-55691605 chr19:55691568-55691588 chr19:55691574-55691588 chr19:55691568-55691581 chr19:55691576-55691586 chr19:55691571-55691584 chr19:55691455-55691468 chr19:55691568-55691588 chr19:55691571-55691584 chr19:55691569-55691587 chr19:55691568-55691577
10	REST	chr19:55690135-55692555	PFSK-1	brain:	n/a	chr19:55691568-55691588 chr19:55692420-55692429 chr19:55691592-55691605 chr19:55691568-55691588 chr19:55691574-55691588 chr19:55691568-55691581 chr19:55691576-55691586 chr19:55691571-55691584 chr19:55691455-55691468 chr19:55691568-55691588 chr19:55691571-55691584 chr19:55691569-55691587 chr19:55691568-55691577
11	REST	chr19:55690450-55692578	PANC-1	pancreas:	n/a	chr19:55691568-55691588 chr19:55692420-55692429 chr19:55691592-55691605 chr19:55691568-55691588 chr19:55691574-55691588 chr19:55691568-55691581 chr19:55691576-55691586 chr19:55691571-55691584 chr19:55691455-55691468 chr19:55691568-55691588 chr19:55691571-55691584 chr19:55691569-55691587 chr19:55691568-55691577
12	POLR2A	chr19:55692356-55692492	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55692397-55692447	GM12892	blood:	n/a
2	chr19:55692397-55692447	HCPEpiC	choroid plexus:	n/a
3	chr19:55692397-55692447	SK-N-MC	brain:	n/a
4	chr19:55692397-55692447	MCF10A-Er-Src	breast:	n/a
5	chr19:55692397-55692447	H1-hESC	embryonic stem cell:	embryo
6	chr19:55692397-55692447	Hela-S3	cervix:	n/a
7	chr19:55692397-55692447	HCF	heart:	n/a
8	chr19:55692397-55692447	HCM	heart:	n/a
9	chr19:55692397-55692447	HRE	kidney:	n/a
10	chr19:55692397-55692447	GM12878	blood:	n/a
11	chr19:55692397-55692447	IMR90	lung:	fetal
12	chr19:55692397-55692447	PrEC	prostate:	n/a
13	chr19:55692397-55692447	SK-N-SH	brain:	n/a
14	chr19:55692397-55692447	BE2_C	brain:	n/a
15	chr19:55692397-55692447	ProgFib	skin:	n/a
16	chr19:55692397-55692447	AG09309	skin:	n/a
17	chr19:55692397-55692447	HCT-116	colon:	n/a
18	chr19:55692397-55692447	HEK293	kidney:	embryo
19	chr19:55692397-55692447	CMK	blood:	n/a
20	chr19:55692397-55692447	NT2-D1	testis:	n/a
21	chr19:55692397-55692447	ECC-1	luminal epithelium:	n/a
22	chr19:55692397-55692447	RPTEC	kidney:	n/a
23	chr19:55692397-55692447	AG09319	gingival:	n/a
24	chr19:55692397-55692447	NHDF-neo	bronchial:	n/a
25	chr19:55692397-55692447	HRCEpiC	kidney:	n/a
26	chr19:55692397-55692447	NH-A	brain:	n/a
27	chr19:55692397-55692447	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:55692397-55692447	HNPCEpiC	eye:	n/a
29	chr19:55692397-55692447	ovcar-3	ovarian:	n/a
30	chr19:55692397-55692447	AG04450	lung:	fetal
31	chr19:55692397-55692447	GM12891	blood:	n/a
32	chr19:55692397-55692447	HAEpiC	amniotic membrane:	n/a
33	chr19:55692397-55692447	MCF-7	breast:	n/a
34	chr19:55692397-55692447	GM06990	blood:	n/a
35	chr19:55692397-55692447	SK-N-SH_RA	brain:	n/a
36	chr19:55692397-55692447	Jurkat	blood:	n/a
37	chr19:55692397-55692447	K562	blood:	n/a
38	chr19:55692397-55692447	PANC-1	pancreas:	n/a
39	chr19:55692397-55692447	AG04449	skin:	fetal
40	chr19:55692397-55692447	BJ	skin:	n/a
41	chr19:55692397-55692447	U87	brain:	n/a
42	chr19:55692397-55692447	SKMC	muscle:	n/a
43	chr19:55692397-55692447	NB4	blood:	n/a
44	chr19:55692397-55692447	PFSK-1	brain:	n/a
45	chr19:55692397-55692447	AG10803	skin:	n/a
46	chr19:55692397-55692447	AoSMC	blood vessel:	n/a
47	chr19:55692397-55692447	A549	lung:	n/a
48	chr19:55692397-55692447	Hepatocyte	liver:	n/a
49	chr19:55692397-55692447	NHBE	bronchial:	n/a
50	chr19:55692397-55692447	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55691908..55694093-chr19:55710384..55713231,2	K562	blood:
2	chr19:55690523..55693470-chr19:55767618..55771014,3	K562	blood:
3	chr19:55688939..55693251-chr19:55917287..55920595,8	K562	blood:
4	chr19:55690071..55692651-chr19:55739628..55742521,2	MCF-7	breast:
5	chr19:55688567..55692973-chr19:55725028..55730023,9	K562	blood:
6	chr19:55682875..55687636-chr19:55687850..55692874,6	MCF-7	breast:
7	chr19:55690189..55693086-chr19:55769247..55770801,2	MCF-7	breast:
8	chr19:55690042..55692776-chr19:55717237..55718780,2	K562	blood:
9	chr19:55692071..55693997-chr19:55950294..55952770,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPS8L1-2	chr19:55691523-55695370	l_1714_chr19:55688749-55693967_brain

Variant related genes	Relation type
SYT5	TF binding region
SYT5	CpG island
ENSG00000108106	Chromatin interaction
ENSG00000180089	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000080031	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000267649	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16986304	1.00[AMR][1000 genomes]
rs56118388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56265043	1.00[AMR][1000 genomes]
rs56740066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58160126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58893984	0.96[AFR][1000 genomes]
rs60345290	0.84[AFR][1000 genomes]
rs73935320	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935322	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935324	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55691200-55718200	Weak transcription	Right Atrium	heart
2	chr19:55691600-55718200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55691800-55717600	Strong transcription	Fetal Intestine Small	intestine
4	chr19:55692000-55693200	Weak transcription	Gastric	stomach
5	chr19:55692000-55693400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:55692000-55696800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:55692000-55697000	Weak transcription	HepG2	liver
8	chr19:55692000-55697600	Weak transcription	Hela-S3	cervix
9	chr19:55692000-55707800	Weak transcription	K562	blood
10	chr19:55692200-55692800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:55692200-55710000	Weak transcription	Pancreas	Pancrea
12	chr19:55692400-55693400	ZNF genes & repeats	Spleen	Spleen

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