Variant report

Variant	rs7011891
Chromosome Location	chr8:49983538-49983539
allele	A/C
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	chr8:49983488-49983538	SKMC	muscle:	n/a
2	chr8:49983488-49983538	HRE	kidney:	n/a
3	chr8:49983488-49983538	MCF10A-Er-Src	breast:	n/a
4	chr8:49983488-49983538	BE2_C	brain:	n/a
5	chr8:49983488-49983538	BJ	skin:	n/a
6	chr8:49983488-49983538	ECC-1	luminal epithelium:	n/a
7	chr8:49983488-49983538	Jurkat	blood:	n/a
8	chr8:49983488-49983538	U87	brain:	n/a
9	chr8:49983488-49983538	NHBE	bronchial:	n/a
10	chr8:49983488-49983538	NT2-D1	testis:	n/a
11	chr8:49983488-49983538	HepG2	liver:	n/a
12	chr8:49983488-49983538	ProgFib	skin:	n/a
13	chr8:49983488-49983538	CMK	blood:	n/a
14	chr8:49983488-49983538	GM19239	blood:	n/a
15	chr8:49983488-49983538	LNCaP	prostate:	n/a
16	chr8:49983488-49983538	HPAEpiC	pulmonary alveolar:	n/a
17	chr8:49983488-49983538	GM12878	blood:	n/a
18	chr8:49983488-49983538	T-47D	breast:	n/a
19	chr8:49983488-49983538	IMR90	lung:	fetal
20	chr8:49983488-49983538	GM06990	blood:	n/a
21	chr8:49983488-49983538	HL-60	blood:	n/a
22	chr8:49983488-49983538	GM12891	blood:	n/a
23	chr8:49983488-49983538	AG04450	lung:	fetal
24	chr8:49983488-49983538	HRPEpiC	eye:	n/a
25	chr8:49983488-49983538	K562	blood:	n/a
26	chr8:49983488-49983538	MCF-7	breast:	n/a
27	chr8:49983488-49983538	Hela-S3	cervix:	n/a
28	chr8:49983488-49983538	Hepatocyte	liver:	n/a
29	chr8:49983488-49983538	PrEC	prostate:	n/a
30	chr8:49983488-49983538	SK-N-SH	brain:	n/a
31	chr8:49983488-49983538	HUVEC	blood vessel:	n/a
32	chr8:49983488-49983538	AG09309	skin:	n/a
33	chr8:49983488-49983538	NHDF-neo	bronchial:	n/a
34	chr8:49983488-49983538	RPTEC	kidney:	n/a
35	chr8:49983488-49983538	HEEpiC	esophagus:	n/a
36	chr8:49983488-49983538	AoSMC	blood vessel:	n/a
37	chr8:49983488-49983538	HCT-116	colon:	n/a
38	chr8:49983488-49983538	AG10803	skin:	n/a
39	chr8:49983488-49983538	HNPCEpiC	eye:	n/a
40	chr8:49983488-49983538	SK-N-MC	brain:	n/a
41	chr8:49983488-49983538	H1-hESC	embryonic stem cell:	embryo
42	chr8:49983488-49983538	HCPEpiC	choroid plexus:	n/a
43	chr8:49983488-49983538	HCF	heart:	n/a
44	chr8:49983488-49983538	HMEC	breast:	n/a
45	chr8:49983488-49983538	NB4	blood:	n/a
46	chr8:49983488-49983538	ovcar-3	ovarian:	n/a
47	chr8:49983488-49983538	Caco-2	colon:	n/a
48	chr8:49983488-49983538	NH-A	brain:	n/a
49	chr8:49983488-49983538	HCM	heart:	n/a
50	chr8:49983488-49983538	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49957600..49959264-chr8:49982765..49984900,3	K562	blood:

No data

Variant related genes	Relation type
C8orf22	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10435575	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504070	0.81[AFR][1000 genomes]
rs10504073	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957356	0.82[AFR][1000 genomes]
rs10957357	0.84[ASW][hapmap];1.00[YRI][hapmap]
rs10957363	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11990854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545097	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680366	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13268440	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13270448	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1828495	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1858312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs186891	0.90[EUR][1000 genomes]
rs1876717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2137013	0.89[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385127	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2385229	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385230	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs341806	0.88[EUR][1000 genomes]
rs4873092	1.00[YRI][hapmap]
rs4873093	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873099	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873100	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873308	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873310	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56057508	0.82[AFR][1000 genomes]
rs6983929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984804	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7013425	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7835336	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs974781	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7011891	C8orf22	cis	Muscle Skeletal	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49979000-49984200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:49979200-49984400	Weak transcription	K562	blood
3	chr8:49979400-49984600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:49979600-49984400	Weak transcription	Adipose Nuclei	Adipose
5	chr8:49979600-49984400	Weak transcription	Psoas Muscle	Psoas
6	chr8:49980800-49984400	Weak transcription	Hela-S3	cervix
7	chr8:49981400-49983800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:49981800-49984200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:49983400-49983600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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