Variant report

Variant	rs6486380
Chromosome Location	chr11:17599412-17599413
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	chr11:17599365-17599415	Hela-S3	cervix:	n/a
2	chr11:17599365-17599415	AG04449	skin:	fetal
3	chr11:17599365-17599415	HRCEpiC	kidney:	n/a
4	chr11:17599365-17599415	RPTEC	kidney:	n/a
5	chr11:17599365-17599415	GM12892	blood:	n/a
6	chr11:17599365-17599415	PrEC	prostate:	n/a
7	chr11:17599365-17599415	HMEC	breast:	n/a
8	chr11:17599365-17599415	HUVEC	blood vessel:	n/a
9	chr11:17599365-17599415	HCF	heart:	n/a
10	chr11:17599365-17599415	T-47D	breast:	n/a
11	chr11:17599365-17599415	SK-N-SH_RA	brain:	n/a
12	chr11:17599365-17599415	GM19239	blood:	n/a
13	chr11:17599365-17599415	AG10803	skin:	n/a
14	chr11:17599365-17599415	HCT-116	colon:	n/a
15	chr11:17599365-17599415	HIPEpiC	eye:	n/a
16	chr11:17599365-17599415	PFSK-1	brain:	n/a
17	chr11:17599365-17599415	HAEpiC	amniotic membrane:	n/a
18	chr11:17599365-17599415	HCPEpiC	choroid plexus:	n/a
19	chr11:17599365-17599415	LNCaP	prostate:	n/a
20	chr11:17599365-17599415	A549	lung:	n/a
21	chr11:17599365-17599415	Jurkat	blood:	n/a
22	chr11:17599365-17599415	HNPCEpiC	eye:	n/a
23	chr11:17599365-17599415	NB4	blood:	n/a
24	chr11:17599365-17599415	MCF10A-Er-Src	breast:	n/a
25	chr11:17599365-17599415	HepG2	liver:	n/a
26	chr11:17599365-17599415	BJ	skin:	n/a
27	chr11:17599365-17599415	SK-N-SH	brain:	n/a
28	chr11:17599365-17599415	H1-hESC	embryonic stem cell:	embryo
29	chr11:17599365-17599415	HRPEpiC	eye:	n/a
30	chr11:17599365-17599415	K562	blood:	n/a
31	chr11:17599365-17599415	HL-60	blood:	n/a
32	chr11:17599365-17599415	NH-A	brain:	n/a
33	chr11:17599365-17599415	GM12891	blood:	n/a
34	chr11:17599365-17599415	SKMC	muscle:	n/a
35	chr11:17599365-17599415	HRE	kidney:	n/a
36	chr11:17599365-17599415	Hepatocyte	liver:	n/a
37	chr11:17599365-17599415	Caco-2	colon:	n/a
38	chr11:17599365-17599415	GM12878	blood:	n/a
39	chr11:17599365-17599415	IMR90	lung:	fetal
40	chr11:17599365-17599415	MCF-7	breast:	n/a
41	chr11:17599365-17599415	AG09309	skin:	n/a
42	chr11:17599365-17599415	ovcar-3	ovarian:	n/a
43	chr11:17599365-17599415	ECC-1	luminal epithelium:	n/a
44	chr11:17599365-17599415	AG09319	gingival:	n/a
45	chr11:17599365-17599415	BE2_C	brain:	n/a
46	chr11:17599365-17599415	ProgFib	skin:	n/a
47	chr11:17599365-17599415	AoSMC	blood vessel:	n/a
48	chr11:17599365-17599415	AG04450	lung:	fetal
49	chr11:17599365-17599415	GM06990	blood:	n/a
50	chr11:17599365-17599415	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17597969..17599564-chr11:17601245..17604128,2	K562	blood:

No data

Variant related genes	Relation type
OTOG	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1076312	0.89[EUR][1000 genomes]
rs10832802	0.86[EUR][1000 genomes]
rs10832804	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16934410	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240490	0.87[EUR][1000 genomes]
rs2240491	0.87[EUR][1000 genomes]
rs2355466	0.89[EUR][1000 genomes]
rs4562808	0.89[EUR][1000 genomes]
rs4756901	0.85[EUR][1000 genomes]
rs4756902	0.85[EUR][1000 genomes]
rs4757548	0.84[EUR][1000 genomes]
rs7104990	0.95[EUR][1000 genomes]
rs7105953	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106548	0.89[EUR][1000 genomes]
rs7122124	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127834	0.85[EUR][1000 genomes]
rs757986	0.90[EUR][1000 genomes]
rs757987	0.90[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	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv7693	chr11:17556788-17601771	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17596600-17599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:17597800-17601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:17597800-17601800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:17597800-17601800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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