Variant report

Variant	rs11650038
Chromosome Location	chr17:34269832-34269833
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr17:34269566-34270107	K562	blood:	n/a	n/a
2	GABPA	chr17:34269576-34269946	K562	blood:	n/a	n/a
3	TEAD4	chr17:34269426-34270223	K562	blood:	n/a	n/a
4	ARID3A	chr17:34269673-34270090	K562	blood:	n/a	n/a
5	RCOR1	chr17:34269483-34270012	K562	blood:	n/a	n/a
6	RCOR1	chr17:34269513-34270065	K562	blood:	n/a	n/a
7	PML	chr17:34269521-34270073	K562	blood:	n/a	n/a
8	GATA2	chr17:34269597-34270134	K562	blood:	n/a	n/a
9	GATA1	chr17:34269447-34269882	PBDE	blood:	n/a	n/a
10	HDAC2	chr17:34269551-34269876	K562	blood:	n/a	n/a
11	TRIM28	chr17:34269567-34270054	K562	blood:	n/a	n/a
12	STAT5A	chr17:34269532-34269982	K562	blood:	n/a	n/a
13	GATA2	chr17:34269438-34270160	K562	blood:	n/a	n/a
14	STAT5A	chr17:34269502-34270167	K562	blood:	n/a	n/a
15	JUND	chr17:34269592-34269989	K562	blood:	n/a	n/a
16	CCNT2	chr17:34269655-34270067	K562	blood:	n/a	n/a
17	CEBPD	chr17:34269471-34270192	K562	blood:	n/a	n/a
18	EP300	chr17:34269585-34270200	K562	blood:	n/a	n/a
19	POLR2A	chr17:34269569-34270109	K562	blood:	n/a	n/a
20	ATF1	chr17:34269537-34270013	K562	blood:	n/a	n/a
21	ZNF274	chr17:34269605-34270360	K562	blood:	n/a	n/a
22	POLR2A	chr17:34269581-34270137	K562	blood:	n/a	n/a
23	HDAC2	chr17:34269541-34269983	K562	blood:	n/a	n/a
24	MAZ	chr17:34269646-34269962	K562	blood:	n/a	n/a
25	TBL1XR1	chr17:34269493-34270247	K562	blood:	n/a	n/a
26	NR2F2	chr17:34269362-34270167	K562	blood:	n/a	n/a
27	TEAD4	chr17:34269476-34270163	K562	blood:	n/a	n/a
28	TBL1XR1	chr17:34269538-34270117	K562	blood:	n/a	n/a
29	TAL1	chr17:34269460-34270257	K562	blood:	n/a	n/a
30	MAX	chr17:34269715-34269893	K562	blood:	n/a	n/a
31	NR2F2	chr17:34269544-34270086	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
LYZL6	TF binding region

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

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

rs_ID	r²[population]
rs1052266	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11080364	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11080365	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11080366	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11080367	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11650056	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11650696	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11651172	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11652963	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11656613	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11657733	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11657788	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2280784	0.88[ASN][1000 genomes]
rs2280785	0.83[ASN][1000 genomes]
rs2526330	0.95[ASN][1000 genomes]
rs2702951	0.94[ASN][1000 genomes]
rs2735472	0.95[ASN][1000 genomes]
rs34464091	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34592370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67974110	0.99[ASN][1000 genomes]
rs72483219	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs760191	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8064395	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8064770	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8068547	0.83[EUR][1000 genomes]
rs8070653	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8071750	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8072581	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8072586	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8077018	0.88[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
rs11650038	TAF15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 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	chr17:34269000-34270600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:34269000-34270600	Enhancers	Duodenum Mucosa	Duodenum
6	chr17:34269200-34271200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:34269400-34270200	Enhancers	Stomach Mucosa	stomach
8	chr17:34269600-34270200	Flanking Active TSS	K562	blood
9	chr17:34269600-34270800	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr17:34269800-34270600	Enhancers	Fetal Thymus	thymus
11	chr17:34269800-34271200	Enhancers	Rectal Mucosa Donor 31	rectum

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