Variant report

Variant	rs73331728
Chromosome Location	chr8:123790779-123790780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:123790743-123790793	NT2-D1	testis:	n/a
2	chr8:123790743-123790793	HUVEC	blood vessel:	n/a
3	chr8:123790743-123790793	PrEC	prostate:	n/a
4	chr8:123790743-123790793	Jurkat	blood:	n/a
5	chr8:123790743-123790793	HAEpiC	amniotic membrane:	n/a
6	chr8:123790743-123790793	HRPEpiC	eye:	n/a
7	chr8:123790743-123790793	Hepatocyte	liver:	n/a
8	chr8:123790743-123790793	AG04450	lung:	fetal
9	chr8:123790743-123790793	HMEC	breast:	n/a
10	chr8:123790743-123790793	HCM	heart:	n/a
11	chr8:123790743-123790793	Hela-S3	cervix:	n/a
12	chr8:123790743-123790793	AG09319	gingival:	n/a
13	chr8:123790743-123790793	H1-hESC	embryonic stem cell:	embryo
14	chr8:123790743-123790793	HPAEpiC	pulmonary alveolar:	n/a
15	chr8:123790743-123790793	IMR90	lung:	fetal
16	chr8:123790743-123790793	HCPEpiC	choroid plexus:	n/a
17	chr8:123790743-123790793	PANC-1	pancreas:	n/a
18	chr8:123790743-123790793	CMK	blood:	n/a
19	chr8:123790743-123790793	NHDF-neo	bronchial:	n/a
20	chr8:123790743-123790793	MCF10A-Er-Src	breast:	n/a
21	chr8:123790743-123790793	MCF-7	breast:	n/a
22	chr8:123790743-123790793	ProgFib	skin:	n/a
23	chr8:123790743-123790793	NH-A	brain:	n/a
24	chr8:123790743-123790793	HRE	kidney:	n/a
25	chr8:123790743-123790793	AG09309	skin:	n/a
26	chr8:123790743-123790793	K562	blood:	n/a
27	chr8:123790743-123790793	GM12878	blood:	n/a
28	chr8:123790743-123790793	GM19239	blood:	n/a
29	chr8:123790743-123790793	A549	lung:	n/a
30	chr8:123790743-123790793	BJ	skin:	n/a
31	chr8:123790743-123790793	GM12892	blood:	n/a
32	chr8:123790743-123790793	SK-N-SH	brain:	n/a
33	chr8:123790743-123790793	U87	brain:	n/a
34	chr8:123790743-123790793	AG04449	skin:	fetal
35	chr8:123790743-123790793	PFSK-1	brain:	n/a
36	chr8:123790743-123790793	AG10803	skin:	n/a
37	chr8:123790743-123790793	HEK293	kidney:	embryo
38	chr8:123790743-123790793	HNPCEpiC	eye:	n/a
39	chr8:123790743-123790793	HepG2	liver:	n/a
40	chr8:123790743-123790793	SKMC	muscle:	n/a
41	chr8:123790743-123790793	SK-N-MC	brain:	n/a
42	chr8:123790743-123790793	LNCaP	prostate:	n/a
43	chr8:123790743-123790793	HCT-116	colon:	n/a
44	chr8:123790743-123790793	T-47D	breast:	n/a
45	chr8:123790743-123790793	HCF	heart:	n/a
46	chr8:123790743-123790793	HIPEpiC	eye:	n/a
47	chr8:123790743-123790793	HEEpiC	esophagus:	n/a
48	chr8:123790743-123790793	ECC-1	luminal epithelium:	n/a
49	chr8:123790743-123790793	NB4	blood:	n/a
50	chr8:123790743-123790793	Caco-2	colon:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:123777545..123779806-chr8:123790238..123792556,2	MCF-7	breast:
2	chr8:123790213..123798071-chr8:123857056..123862100,10	MCF-7	breast:

No data

Variant related genes	Relation type
ZHX2	CpG island
ENSG00000272043	CpG island
ENSG00000221542	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10505426	1.00[EUR][1000 genomes]
rs11990273	1.00[EUR][1000 genomes]
rs16897554	1.00[EUR][1000 genomes]
rs16897576	1.00[EUR][1000 genomes]
rs1992669	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296517	1.00[EUR][1000 genomes]
rs6988421	1.00[EUR][1000 genomes]
rs6993388	1.00[EUR][1000 genomes]
rs7008874	1.00[EUR][1000 genomes]
rs73331733	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:123785800-123792000	Weak transcription	NHEK	skin
2	chr8:123786800-123792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:123788800-123792000	Weak transcription	Stomach Mucosa	stomach
4	chr8:123788800-123792000	Weak transcription	Hela-S3	cervix
5	chr8:123789800-123791400	Enhancers	HepG2	liver

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