Variant report

Variant	rs11992240
Chromosome Location	chr8:52321843-52321844
allele	C/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:0)
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	chr8:52321814-52321864	IMR90	lung:	fetal
2	chr8:52321814-52321864	U87	brain:	n/a
3	chr8:52321814-52321864	PFSK-1	brain:	n/a
4	chr8:52321814-52321864	ProgFib	skin:	n/a
5	chr8:52321814-52321864	HEEpiC	esophagus:	n/a
6	chr8:52321814-52321864	MCF-7	breast:	n/a
7	chr8:52321814-52321864	K562	blood:	n/a
8	chr8:52321814-52321864	HEK293	kidney:	embryo
9	chr8:52321814-52321864	GM19239	blood:	n/a
10	chr8:52321814-52321864	SKMC	muscle:	n/a
11	chr8:52321814-52321864	GM06990	blood:	n/a
12	chr8:52321814-52321864	NT2-D1	testis:	n/a
13	chr8:52321814-52321864	AG04449	skin:	fetal
14	chr8:52321814-52321864	T-47D	breast:	n/a
15	chr8:52321814-52321864	AoSMC	blood vessel:	n/a
16	chr8:52321814-52321864	AG10803	skin:	n/a
17	chr8:52321814-52321864	ECC-1	luminal epithelium:	n/a
18	chr8:52321814-52321864	Jurkat	blood:	n/a
19	chr8:52321814-52321864	HCT-116	colon:	n/a
20	chr8:52321814-52321864	Hela-S3	cervix:	n/a
21	chr8:52321814-52321864	HMEC	breast:	n/a
22	chr8:52321814-52321864	SAEC	small airway:	n/a
23	chr8:52321814-52321864	RPTEC	kidney:	n/a
24	chr8:52321814-52321864	NH-A	brain:	n/a
25	chr8:52321814-52321864	SK-N-SH_RA	brain:	n/a
26	chr8:52321814-52321864	BJ	skin:	n/a
27	chr8:52321814-52321864	Caco-2	colon:	n/a
28	chr8:52321814-52321864	GM12892	blood:	n/a
29	chr8:52321814-52321864	AG09319	gingival:	n/a
30	chr8:52321814-52321864	H1-hESC	embryonic stem cell:	embryo
31	chr8:52321814-52321864	MCF10A-Er-Src	breast:	n/a
32	chr8:52321814-52321864	LNCaP	prostate:	n/a
33	chr8:52321814-52321864	SK-N-SH	brain:	n/a
34	chr8:52321814-52321864	HCF	heart:	n/a
35	chr8:52321814-52321864	HL-60	blood:	n/a
36	chr8:52321814-52321864	HRCEpiC	kidney:	n/a
37	chr8:52321814-52321864	GM12878	blood:	n/a
38	chr8:52321814-52321864	PrEC	prostate:	n/a
39	chr8:52321814-52321864	SK-N-MC	brain:	n/a
40	chr8:52321814-52321864	HAEpiC	amniotic membrane:	n/a
41	chr8:52321814-52321864	AG04450	lung:	fetal
42	chr8:52321814-52321864	NHDF-neo	bronchial:	n/a
43	chr8:52321814-52321864	CMK	blood:	n/a
44	chr8:52321814-52321864	HCPEpiC	choroid plexus:	n/a
45	chr8:52321814-52321864	HRE	kidney:	n/a
46	chr8:52321814-52321864	HCM	heart:	n/a
47	chr8:52321814-52321864	NB4	blood:	n/a
48	chr8:52321814-52321864	HRPEpiC	eye:	n/a
49	chr8:52321814-52321864	A549	lung:	n/a
50	chr8:52321814-52321864	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
PXDNL	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10093611	0.93[ASN][1000 genomes]
rs1036112	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10435583	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958264	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985241	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990007	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990397	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916177	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916187	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916207	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2010051	0.85[AMR][1000 genomes]
rs58144747	0.80[ASN][1000 genomes]
rs6983511	0.85[ASN][1000 genomes]
rs6997365	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002273	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7010110	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012913	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018307	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs719162	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298446	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr8:52316800-52342200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:52319600-52322600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:52319600-52323800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:52320600-52322200	Strong transcription	Right Ventricle	heart
5	chr8:52320800-52322200	Strong transcription	Left Ventricle	heart
6	chr8:52321200-52322000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:52321600-52322000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:52321800-52323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:52321800-52335400	Weak transcription	Aorta	Aorta

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