Variant report

Variant	rs1985026
Chromosome Location	chr11:9021866-9021867
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: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	chr11:9021859-9021909	NH-A	brain:	n/a
2	chr11:9021859-9021909	GM06990	blood:	n/a
3	chr11:9021859-9021909	LNCaP	prostate:	n/a
4	chr11:9021859-9021909	HRE	kidney:	n/a
5	chr11:9021859-9021909	Jurkat	blood:	n/a
6	chr11:9021859-9021909	HIPEpiC	eye:	n/a
7	chr11:9021859-9021909	AG04449	skin:	fetal
8	chr11:9021859-9021909	PrEC	prostate:	n/a
9	chr11:9021859-9021909	ovcar-3	ovarian:	n/a
10	chr11:9021859-9021909	GM12878	blood:	n/a
11	chr11:9021859-9021909	MCF-7	breast:	n/a
12	chr11:9021859-9021909	Hepatocyte	liver:	n/a
13	chr11:9021859-9021909	SK-N-SH	brain:	n/a
14	chr11:9021859-9021909	NB4	blood:	n/a
15	chr11:9021859-9021909	T-47D	breast:	n/a
16	chr11:9021859-9021909	H1-hESC	embryonic stem cell:	embryo
17	chr11:9021859-9021909	BE2_C	brain:	n/a
18	chr11:9021859-9021909	HUVEC	blood vessel:	n/a
19	chr11:9021859-9021909	ProgFib	skin:	n/a
20	chr11:9021859-9021909	K562	blood:	n/a
21	chr11:9021859-9021909	ECC-1	luminal epithelium:	n/a
22	chr11:9021859-9021909	SAEC	small airway:	n/a
23	chr11:9021859-9021909	NHBE	bronchial:	n/a
24	chr11:9021859-9021909	SK-N-MC	brain:	n/a
25	chr11:9021859-9021909	U87	brain:	n/a
26	chr11:9021859-9021909	AG10803	skin:	n/a
27	chr11:9021859-9021909	Caco-2	colon:	n/a
28	chr11:9021859-9021909	SK-N-SH_RA	brain:	n/a
29	chr11:9021859-9021909	PANC-1	pancreas:	n/a
30	chr11:9021859-9021909	HRPEpiC	eye:	n/a
31	chr11:9021859-9021909	Hela-S3	cervix:	n/a
32	chr11:9021859-9021909	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:9021859-9021909	HepG2	liver:	n/a
34	chr11:9021859-9021909	NT2-D1	testis:	n/a
35	chr11:9021859-9021909	PFSK-1	brain:	n/a
36	chr11:9021859-9021909	HCF	heart:	n/a
37	chr11:9021859-9021909	HRCEpiC	kidney:	n/a
38	chr11:9021859-9021909	AG09319	gingival:	n/a
39	chr11:9021859-9021909	GM12892	blood:	n/a
40	chr11:9021859-9021909	AG04450	lung:	fetal
41	chr11:9021859-9021909	GM12891	blood:	n/a
42	chr11:9021859-9021909	HAEpiC	amniotic membrane:	n/a
43	chr11:9021859-9021909	A549	lung:	n/a
44	chr11:9021859-9021909	HEEpiC	esophagus:	n/a
45	chr11:9021859-9021909	GM19239	blood:	n/a
46	chr11:9021859-9021909	IMR90	lung:	fetal
47	chr11:9021859-9021909	HCPEpiC	choroid plexus:	n/a
48	chr11:9021859-9021909	SKMC	muscle:	n/a
49	chr11:9021859-9021909	CMK	blood:	n/a
50	chr11:9021859-9021909	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9020957..9023609-chr11:9034116..9037224,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253973	CpG island

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10219366	0.82[EUR][1000 genomes]
rs10769976	0.83[EUR][1000 genomes]
rs10840156	0.83[EUR][1000 genomes]
rs12785559	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786377	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790020	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794962	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805109	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347016	0.87[ASN][1000 genomes]
rs2016844	0.80[EUR][1000 genomes]
rs2056903	0.80[EUR][1000 genomes]
rs2116510	0.87[ASN][1000 genomes]
rs2116511	0.87[ASN][1000 genomes]
rs2246878	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2247038	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2252102	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2316541	0.85[ASN][1000 genomes]
rs2568047	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568069	0.87[ASN][1000 genomes]
rs2568074	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2568075	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2568077	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2568079	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568081	0.85[ASN][1000 genomes]
rs2568086	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2568087	0.87[ASN][1000 genomes]
rs2568088	0.81[ASN][1000 genomes]
rs2653590	0.87[ASN][1000 genomes]
rs2653601	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2653604	0.87[ASN][1000 genomes]
rs2653611	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742473	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742486	0.87[ASN][1000 genomes]
rs2742487	0.87[ASN][1000 genomes]
rs2742488	0.87[ASN][1000 genomes]
rs2742489	0.81[ASN][1000 genomes]
rs2742491	0.87[ASN][1000 genomes]
rs2742493	0.87[ASN][1000 genomes]
rs2742495	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742496	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2742497	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742504	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742505	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742512	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2742513	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2742514	0.81[ASN][1000 genomes]
rs3751063	0.83[EUR][1000 genomes]
rs4264185	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4370967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4909951	0.83[EUR][1000 genomes]
rs4910313	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66630602	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7124403	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852790	0.85[ASN][1000 genomes]
rs72853712	0.85[ASN][1000 genomes]
rs7940895	0.87[ASN][1000 genomes]
rs909464	0.80[EUR][1000 genomes]
rs9300096	0.83[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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1985026	C11orf17	cis	multi-tissue	Pritchard
rs1985026	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9011000-9023200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:9011800-9023000	Weak transcription	NHDF-Ad	bronchial
3	chr11:9020200-9022800	Weak transcription	K562	blood
4	chr11:9020200-9023200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:9020200-9023200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:9020200-9023400	Weak transcription	Gastric	stomach

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