Variant report

Variant	rs11080367
Chromosome Location	chr17:34271139-34271140
allele	G/T
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	chr17:34271125-34271175	HAEpiC	amniotic membrane:	n/a
2	chr17:34271125-34271175	SK-N-MC	brain:	n/a
3	chr17:34271125-34271175	GM12878	blood:	n/a
4	chr17:34271125-34271175	GM19239	blood:	n/a
5	chr17:34271125-34271175	NH-A	brain:	n/a
6	chr17:34271125-34271175	Caco-2	colon:	n/a
7	chr17:34271125-34271175	RPTEC	kidney:	n/a
8	chr17:34271125-34271175	HUVEC	blood vessel:	n/a
9	chr17:34271125-34271175	ProgFib	skin:	n/a
10	chr17:34271125-34271175	HEEpiC	esophagus:	n/a
11	chr17:34271125-34271175	HepG2	liver:	n/a
12	chr17:34271125-34271175	BJ	skin:	n/a
13	chr17:34271125-34271175	HMEC	breast:	n/a
14	chr17:34271125-34271175	MCF10A-Er-Src	breast:	n/a
15	chr17:34271125-34271175	LNCaP	prostate:	n/a
16	chr17:34271125-34271175	PANC-1	pancreas:	n/a
17	chr17:34271125-34271175	HNPCEpiC	eye:	n/a
18	chr17:34271125-34271175	MCF-7	breast:	n/a
19	chr17:34271125-34271175	K562	blood:	n/a
20	chr17:34271125-34271175	GM06990	blood:	n/a
21	chr17:34271125-34271175	NHBE	bronchial:	n/a
22	chr17:34271125-34271175	PrEC	prostate:	n/a
23	chr17:34271125-34271175	H1-hESC	embryonic stem cell:	embryo
24	chr17:34271125-34271175	NHDF-neo	bronchial:	n/a
25	chr17:34271125-34271175	HRPEpiC	eye:	n/a
26	chr17:34271125-34271175	AG04450	lung:	fetal
27	chr17:34271125-34271175	HEK293	kidney:	embryo
28	chr17:34271125-34271175	AG09319	gingival:	n/a
29	chr17:34271125-34271175	ovcar-3	ovarian:	n/a
30	chr17:34271125-34271175	HL-60	blood:	n/a
31	chr17:34271125-34271175	SK-N-SH_RA	brain:	n/a
32	chr17:34271125-34271175	HCF	heart:	n/a
33	chr17:34271125-34271175	BE2_C	brain:	n/a
34	chr17:34271125-34271175	HRE	kidney:	n/a
35	chr17:34271125-34271175	HRCEpiC	kidney:	n/a
36	chr17:34271125-34271175	SK-N-SH	brain:	n/a
37	chr17:34271125-34271175	IMR90	lung:	fetal
38	chr17:34271125-34271175	HPAEpiC	pulmonary alveolar:	n/a
39	chr17:34271125-34271175	AG04449	skin:	fetal
40	chr17:34271125-34271175	HCT-116	colon:	n/a
41	chr17:34271125-34271175	AG10803	skin:	n/a
42	chr17:34271125-34271175	GM12892	blood:	n/a
43	chr17:34271125-34271175	GM12891	blood:	n/a
44	chr17:34271125-34271175	CMK	blood:	n/a
45	chr17:34271125-34271175	HCPEpiC	choroid plexus:	n/a
46	chr17:34271125-34271175	HIPEpiC	eye:	n/a
47	chr17:34271125-34271175	AG09309	skin:	n/a
48	chr17:34271125-34271175	ECC-1	luminal epithelium:	n/a
49	chr17:34271125-34271175	SKMC	muscle:	n/a
50	chr17:34271125-34271175	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
LYZL6	CpG island

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1052266	0.88[EUR][1000 genomes]
rs11080364	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080365	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080366	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11650038	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11650056	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11650696	0.89[EUR][1000 genomes]
rs11651172	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11652963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11656613	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11657733	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11657788	0.89[EUR][1000 genomes]
rs2280784	0.85[ASN][1000 genomes]
rs2280785	0.80[ASN][1000 genomes]
rs2526330	0.92[ASN][1000 genomes]
rs2702951	0.93[ASN][1000 genomes]
rs2735472	0.92[ASN][1000 genomes]
rs34464091	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34592370	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67974110	0.96[ASN][1000 genomes]
rs72483219	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs760191	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8064395	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8064770	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8068547	0.83[EUR][1000 genomes]
rs8070653	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8071750	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8072581	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8072586	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8077018	0.89[ASN][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	esv3380735	chr17:34246253-34271932	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1063100	chr17:34246253-34397598	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833424	chr17:34246253-34419476	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1056950	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1059795	chr17:34246253-34442620	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1060457	chr17:34246253-34442620	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv543320	chr17:34246253-34442620	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv949160	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1062125	chr17:34266309-34442620	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11080367	TAF15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34258000-34273800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:34268800-34272000	Enhancers	Fetal Intestine Small	intestine
3	chr17:34268800-34272200	Enhancers	Fetal Intestine Large	intestine
4	chr17:34269200-34271200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:34269800-34271200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr17:34270200-34271800	Enhancers	K562	blood
7	chr17:34270400-34271200	Enhancers	Pancreas	Pancrea
8	chr17:34270600-34274000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr17:34270600-34274200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:34270600-34280400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:34270800-34272000	Enhancers	HSMMtube	muscle
12	chr17:34270800-34274200	Weak transcription	Rectal Mucosa Donor 29	rectum

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