Variant report

Variant	rs7305323
Chromosome Location	chr12:20966548-20966549
allele	C/T
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	chr12:20966524-20966574	SKMC	muscle:	n/a
2	chr12:20966524-20966574	PrEC	prostate:	n/a
3	chr12:20966524-20966574	HRE	kidney:	n/a
4	chr12:20966524-20966574	HEEpiC	esophagus:	n/a
5	chr12:20966524-20966574	GM12878	blood:	n/a
6	chr12:20966524-20966574	BJ	skin:	n/a
7	chr12:20966524-20966574	Jurkat	blood:	n/a
8	chr12:20966524-20966574	PANC-1	pancreas:	n/a
9	chr12:20966524-20966574	U87	brain:	n/a
10	chr12:20966524-20966574	Hepatocyte	liver:	n/a
11	chr12:20966524-20966574	IMR90	lung:	fetal
12	chr12:20966524-20966574	AG09309	skin:	n/a
13	chr12:20966524-20966574	HAEpiC	amniotic membrane:	n/a
14	chr12:20966524-20966574	T-47D	breast:	n/a
15	chr12:20966524-20966574	HRPEpiC	eye:	n/a
16	chr12:20966524-20966574	GM06990	blood:	n/a
17	chr12:20966524-20966574	HL-60	blood:	n/a
18	chr12:20966524-20966574	NHBE	bronchial:	n/a
19	chr12:20966524-20966574	HCM	heart:	n/a
20	chr12:20966524-20966574	HPAEpiC	pulmonary alveolar:	n/a
21	chr12:20966524-20966574	NH-A	brain:	n/a
22	chr12:20966524-20966574	GM12892	blood:	n/a
23	chr12:20966524-20966574	AG09319	gingival:	n/a
24	chr12:20966524-20966574	ECC-1	luminal epithelium:	n/a
25	chr12:20966524-20966574	HNPCEpiC	eye:	n/a
26	chr12:20966524-20966574	HUVEC	blood vessel:	n/a
27	chr12:20966524-20966574	AoSMC	blood vessel:	n/a
28	chr12:20966524-20966574	K562	blood:	n/a
29	chr12:20966524-20966574	HEK293	kidney:	embryo
30	chr12:20966524-20966574	ovcar-3	ovarian:	n/a
31	chr12:20966524-20966574	SK-N-MC	brain:	n/a
32	chr12:20966524-20966574	MCF-7	breast:	n/a
33	chr12:20966524-20966574	SAEC	small airway:	n/a
34	chr12:20966524-20966574	GM19239	blood:	n/a
35	chr12:20966524-20966574	MCF10A-Er-Src	breast:	n/a
36	chr12:20966524-20966574	LNCaP	prostate:	n/a
37	chr12:20966524-20966574	HMEC	breast:	n/a
38	chr12:20966524-20966574	CMK	blood:	n/a
39	chr12:20966524-20966574	HCF	heart:	n/a
40	chr12:20966524-20966574	HCPEpiC	choroid plexus:	n/a
41	chr12:20966524-20966574	NT2-D1	testis:	n/a
42	chr12:20966524-20966574	HRCEpiC	kidney:	n/a
43	chr12:20966524-20966574	ProgFib	skin:	n/a
44	chr12:20966524-20966574	A549	lung:	n/a
45	chr12:20966524-20966574	GM12891	blood:	n/a
46	chr12:20966524-20966574	AG04450	lung:	fetal
47	chr12:20966524-20966574	HepG2	liver:	n/a
48	chr12:20966524-20966574	PFSK-1	brain:	n/a
49	chr12:20966524-20966574	SK-N-SH	brain:	n/a
50	chr12:20966524-20966574	NB4	blood:	n/a

No data

Variant related genes	Relation type
SLCO1B7	CpG island
ENSG00000257046	CpG island
SLCO1B3	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10841651	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11045523	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11045524	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228798	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1356148	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1356149	0.84[ASN][1000 genomes]
rs2417946	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34563539	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3942320	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4149107	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7133422	0.84[ASN][1000 genomes]
rs71436837	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7303609	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7309718	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv17347	chr12:20892854-21029179	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1051454	chr12:20893994-20999635	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1040033	chr12:20914439-21078855	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv869995	chr12:20929531-21081863	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2758297	chr12:20942215-21117820	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759882	chr12:20942215-21117820	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv427905	chr12:20942215-21117820	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv428275	chr12:20942215-21117820	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv898859	chr12:20950737-21082276	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv898860	chr12:20964557-21015760	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
14	esv2750761	chr12:20966147-20967134	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20964600-20969600	Weak transcription	A549	lung
2	chr12:20966400-20966800	Flanking Active TSS	Liver	Liver

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