Variant report

Variant	rs2572368
Chromosome Location	chr8:11225874-11225875
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	chr8:11225832-11225882	HNPCEpiC	eye:	n/a
2	chr8:11225832-11225882	BE2_C	brain:	n/a
3	chr8:11225832-11225882	GM12878	blood:	n/a
4	chr8:11225832-11225882	NH-A	brain:	n/a
5	chr8:11225832-11225882	Jurkat	blood:	n/a
6	chr8:11225832-11225882	AoSMC	blood vessel:	n/a
7	chr8:11225832-11225882	NB4	blood:	n/a
8	chr8:11225832-11225882	Hepatocyte	liver:	n/a
9	chr8:11225832-11225882	HMEC	breast:	n/a
10	chr8:11225832-11225882	NHDF-neo	bronchial:	n/a
11	chr8:11225832-11225882	HAEpiC	amniotic membrane:	n/a
12	chr8:11225832-11225882	HCM	heart:	n/a
13	chr8:11225832-11225882	ovcar-3	ovarian:	n/a
14	chr8:11225832-11225882	NT2-D1	testis:	n/a
15	chr8:11225832-11225882	AG04449	skin:	fetal
16	chr8:11225832-11225882	HCF	heart:	n/a
17	chr8:11225832-11225882	GM12891	blood:	n/a
18	chr8:11225832-11225882	PrEC	prostate:	n/a
19	chr8:11225832-11225882	HCPEpiC	choroid plexus:	n/a
20	chr8:11225832-11225882	ECC-1	luminal epithelium:	n/a
21	chr8:11225832-11225882	CMK	blood:	n/a
22	chr8:11225832-11225882	K562	blood:	n/a
23	chr8:11225832-11225882	A549	lung:	n/a
24	chr8:11225832-11225882	Caco-2	colon:	n/a
25	chr8:11225832-11225882	SK-N-SH	brain:	n/a
26	chr8:11225832-11225882	HepG2	liver:	n/a
27	chr8:11225832-11225882	HCT-116	colon:	n/a
28	chr8:11225832-11225882	HUVEC	blood vessel:	n/a
29	chr8:11225832-11225882	HIPEpiC	eye:	n/a
30	chr8:11225832-11225882	LNCaP	prostate:	n/a
31	chr8:11225832-11225882	HEEpiC	esophagus:	n/a
32	chr8:11225832-11225882	PANC-1	pancreas:	n/a
33	chr8:11225832-11225882	H1-hESC	embryonic stem cell:	embryo
34	chr8:11225832-11225882	HL-60	blood:	n/a
35	chr8:11225832-11225882	ProgFib	skin:	n/a
36	chr8:11225832-11225882	HRPEpiC	eye:	n/a
37	chr8:11225832-11225882	MCF10A-Er-Src	breast:	n/a
38	chr8:11225832-11225882	IMR90	lung:	fetal
39	chr8:11225832-11225882	U87	brain:	n/a
40	chr8:11225832-11225882	PFSK-1	brain:	n/a
41	chr8:11225832-11225882	SK-N-MC	brain:	n/a
42	chr8:11225832-11225882	MCF-7	breast:	n/a
43	chr8:11225832-11225882	SK-N-SH_RA	brain:	n/a
44	chr8:11225832-11225882	T-47D	breast:	n/a
45	chr8:11225832-11225882	GM06990	blood:	n/a
46	chr8:11225832-11225882	Hela-S3	cervix:	n/a
47	chr8:11225832-11225882	AG10803	skin:	n/a
48	chr8:11225832-11225882	SKMC	muscle:	n/a
49	chr8:11225832-11225882	AG09319	gingival:	n/a
50	chr8:11225832-11225882	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
C8orf12	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1369366	1.00[EUR][1000 genomes]
rs1369367	1.00[EUR][1000 genomes]
rs1435272	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1435281	1.00[EUR][1000 genomes]
rs1435283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1435284	1.00[EUR][1000 genomes]
rs1529855	1.00[EUR][1000 genomes]
rs1865516	1.00[EUR][1000 genomes]
rs1865520	1.00[EUR][1000 genomes]
rs2043509	0.84[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043511	1.00[EUR][1000 genomes]
rs2572373	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2572396	1.00[EUR][1000 genomes]
rs2572424	1.00[EUR][1000 genomes]
rs2572425	1.00[EUR][1000 genomes]
rs2572427	1.00[EUR][1000 genomes]
rs2572453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736259	1.00[EUR][1000 genomes]
rs2736260	1.00[EUR][1000 genomes]
rs2736275	1.00[EUR][1000 genomes]
rs2736276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736279	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736281	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736284	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736383	1.00[EUR][1000 genomes]
rs55731352	1.00[EUR][1000 genomes]
rs61251909	1.00[EUR][1000 genomes]
rs73665041	1.00[EUR][1000 genomes]
rs73665047	1.00[EUR][1000 genomes]
rs920046	0.84[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs920052	1.00[EUR][1000 genomes]
rs978148	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11206400-11226400	Weak transcription	Brain Anterior Caudate	brain
2	chr8:11216000-11227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:11218000-11237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:11222800-11226400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:11223400-11229000	Weak transcription	Pancreas	Pancrea
6	chr8:11225000-11226400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:11225400-11229800	Weak transcription	K562	blood

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