Variant report

Variant	rs12958313
Chromosome Location	chr18:11685813-11685814
allele	G/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:1)
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	chr18:11685789-11685839	GM12892	blood:	n/a
2	chr18:11685789-11685839	HRPEpiC	eye:	n/a
3	chr18:11685789-11685839	MCF-7	breast:	n/a
4	chr18:11685789-11685839	NHDF-neo	bronchial:	n/a
5	chr18:11685789-11685839	AG04449	skin:	fetal
6	chr18:11685789-11685839	A549	lung:	n/a
7	chr18:11685789-11685839	LNCaP	prostate:	n/a
8	chr18:11685789-11685839	U87	brain:	n/a
9	chr18:11685789-11685839	IMR90	lung:	fetal
10	chr18:11685789-11685839	Caco-2	colon:	n/a
11	chr18:11685789-11685839	NH-A	brain:	n/a
12	chr18:11685789-11685839	SK-N-SH	brain:	n/a
13	chr18:11685789-11685839	HPAEpiC	pulmonary alveolar:	n/a
14	chr18:11685789-11685839	SAEC	small airway:	n/a
15	chr18:11685789-11685839	NT2-D1	testis:	n/a
16	chr18:11685789-11685839	HMEC	breast:	n/a
17	chr18:11685789-11685839	HCT-116	colon:	n/a
18	chr18:11685789-11685839	BJ	skin:	n/a
19	chr18:11685789-11685839	GM12878	blood:	n/a
20	chr18:11685789-11685839	PANC-1	pancreas:	n/a
21	chr18:11685789-11685839	AoSMC	blood vessel:	n/a
22	chr18:11685789-11685839	HRE	kidney:	n/a
23	chr18:11685789-11685839	Hepatocyte	liver:	n/a
24	chr18:11685789-11685839	HCF	heart:	n/a
25	chr18:11685789-11685839	NB4	blood:	n/a
26	chr18:11685789-11685839	HepG2	liver:	n/a
27	chr18:11685789-11685839	HCPEpiC	choroid plexus:	n/a
28	chr18:11685789-11685839	HCM	heart:	n/a
29	chr18:11685789-11685839	HRCEpiC	kidney:	n/a
30	chr18:11685789-11685839	Jurkat	blood:	n/a
31	chr18:11685789-11685839	SK-N-SH_RA	brain:	n/a
32	chr18:11685789-11685839	K562	blood:	n/a
33	chr18:11685789-11685839	HIPEpiC	eye:	n/a
34	chr18:11685789-11685839	RPTEC	kidney:	n/a
35	chr18:11685789-11685839	HNPCEpiC	eye:	n/a
36	chr18:11685789-11685839	PrEC	prostate:	n/a
37	chr18:11685789-11685839	HEK293	kidney:	embryo
38	chr18:11685789-11685839	ECC-1	luminal epithelium:	n/a
39	chr18:11685789-11685839	GM12891	blood:	n/a
40	chr18:11685789-11685839	BE2_C	brain:	n/a
41	chr18:11685789-11685839	SK-N-MC	brain:	n/a
42	chr18:11685789-11685839	GM19239	blood:	n/a
43	chr18:11685789-11685839	MCF10A-Er-Src	breast:	n/a
44	chr18:11685789-11685839	CMK	blood:	n/a
45	chr18:11685789-11685839	AG09319	gingival:	n/a
46	chr18:11685789-11685839	HAEpiC	amniotic membrane:	n/a
47	chr18:11685789-11685839	HL-60	blood:	n/a
48	chr18:11685789-11685839	SKMC	muscle:	n/a
49	chr18:11685789-11685839	ovcar-3	ovarian:	n/a
50	chr18:11685789-11685839	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11662625..11665139-chr18:11684651..11687441,2	MCF-7	breast:

No data

Variant related genes	Relation type
GNAL	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28449865	0.90[AMR][1000 genomes]
rs34372518	1.00[EUR][1000 genomes]
rs35925878	1.00[EUR][1000 genomes]
rs7236213	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9956176	1.00[AMR][1000 genomes];0.82[EUR][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	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv518207	chr18:11670845-11695676	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv516128	chr18:11683431-11695676	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11677200-11688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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