Variant report

Variant	rs13377875
Chromosome Location	chr12:66965992-66965993
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: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	chr12:66965991-66966041	SK-N-SH_RA	brain:	n/a
2	chr12:66965991-66966041	AG04449	skin:	fetal
3	chr12:66965991-66966041	MCF10A-Er-Src	breast:	n/a
4	chr12:66965991-66966041	AG10803	skin:	n/a
5	chr12:66965991-66966041	HCT-116	colon:	n/a
6	chr12:66965991-66966041	GM06990	blood:	n/a
7	chr12:66965991-66966041	HCF	heart:	n/a
8	chr12:66965991-66966041	T-47D	breast:	n/a
9	chr12:66965991-66966041	NHDF-neo	bronchial:	n/a
10	chr12:66965991-66966041	AG09309	skin:	n/a
11	chr12:66965991-66966041	HCM	heart:	n/a
12	chr12:66965991-66966041	HIPEpiC	eye:	n/a
13	chr12:66965991-66966041	SK-N-MC	brain:	n/a
14	chr12:66965991-66966041	HPAEpiC	pulmonary alveolar:	n/a
15	chr12:66965991-66966041	BE2_C	brain:	n/a
16	chr12:66965991-66966041	PANC-1	pancreas:	n/a
17	chr12:66965991-66966041	MCF-7	breast:	n/a
18	chr12:66965991-66966041	PFSK-1	brain:	n/a
19	chr12:66965991-66966041	SAEC	small airway:	n/a
20	chr12:66965991-66966041	AG04450	lung:	fetal
21	chr12:66965991-66966041	CMK	blood:	n/a
22	chr12:66965991-66966041	NT2-D1	testis:	n/a
23	chr12:66965991-66966041	HRCEpiC	kidney:	n/a
24	chr12:66965991-66966041	Hepatocyte	liver:	n/a
25	chr12:66965991-66966041	LNCaP	prostate:	n/a
26	chr12:66965991-66966041	AG09319	gingival:	n/a
27	chr12:66965991-66966041	ECC-1	luminal epithelium:	n/a
28	chr12:66965991-66966041	ovcar-3	ovarian:	n/a
29	chr12:66965991-66966041	BJ	skin:	n/a
30	chr12:66965991-66966041	ProgFib	skin:	n/a
31	chr12:66965991-66966041	HAEpiC	amniotic membrane:	n/a
32	chr12:66965991-66966041	Hela-S3	cervix:	n/a
33	chr12:66965991-66966041	Jurkat	blood:	n/a
34	chr12:66965991-66966041	H1-hESC	embryonic stem cell:	embryo
35	chr12:66965991-66966041	HEEpiC	esophagus:	n/a
36	chr12:66965991-66966041	HNPCEpiC	eye:	n/a
37	chr12:66965991-66966041	HRPEpiC	eye:	n/a
38	chr12:66965991-66966041	HEK293	kidney:	embryo
39	chr12:66965991-66966041	A549	lung:	n/a
40	chr12:66965991-66966041	GM12878	blood:	n/a
41	chr12:66965991-66966041	HL-60	blood:	n/a
42	chr12:66965991-66966041	NH-A	brain:	n/a
43	chr12:66965991-66966041	GM12891	blood:	n/a
44	chr12:66965991-66966041	U87	brain:	n/a
45	chr12:66965991-66966041	SK-N-SH	brain:	n/a
46	chr12:66965991-66966041	HepG2	liver:	n/a
47	chr12:66965991-66966041	HCPEpiC	choroid plexus:	n/a
48	chr12:66965991-66966041	HRE	kidney:	n/a
49	chr12:66965991-66966041	K562	blood:	n/a
50	chr12:66965991-66966041	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
OSBPL9P4	CpG island
GRIP1	CpG island

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11176256	0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176257	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176295	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176296	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504204	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297649	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307899	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12309622	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309778	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309896	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311664	1.00[AMR][1000 genomes]
rs12313212	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319060	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319603	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321077	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321492	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321495	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377630	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13378006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102568	1.00[AMR][1000 genomes]
rs17102569	1.00[AMR][1000 genomes]
rs1813738	1.00[AMR][1000 genomes]
rs1908122	1.00[AMR][1000 genomes]
rs2009924	1.00[AMR][1000 genomes]
rs57630867	1.00[AMR][1000 genomes]
rs58011515	1.00[AMR][1000 genomes]
rs58314154	1.00[AMR][1000 genomes]
rs58520471	1.00[AMR][1000 genomes]
rs59000682	1.00[AMR][1000 genomes]
rs59253853	1.00[AMR][1000 genomes]
rs60150269	1.00[AMR][1000 genomes]
rs60436125	1.00[AMR][1000 genomes]
rs60605218	1.00[AMR][1000 genomes]
rs60935597	1.00[AMR][1000 genomes]
rs61448698	1.00[AMR][1000 genomes]
rs7974745	1.00[AMR][1000 genomes]
rs7974896	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2757508	chr12:66905405-66980180	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759906	chr12:66905405-66980180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv34782	chr12:66933542-66971398	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv442275	chr12:66963300-66971024	Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
11	esv2752525	chr12:66963804-66971398	Weak transcription Enhancers	TF binding region CpG island	2 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	chr12:66962800-66981400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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