Variant report

Variant	rs11653189
Chromosome Location	chr17:15586889-15586890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:15586583-15588019	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr17:15586884-15587839	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:15586879-15587733	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:15586523-15587888	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:15586616-15587790	Raji	blood:	n/a	n/a
6	MXI1	chr17:15586883-15588055	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr17:15586417-15587786	GM12892	blood:	n/a	n/a
8	HEY1	chr17:15586666-15587777	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:15586614-15587802	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr17:15586644-15587888	K562	blood:	n/a	n/a
11	POLR2A	chr17:15586553-15587806	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr17:15586406-15587212	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr17:15586497-15587695	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
TRIM16	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10221188	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10221200	0.87[EUR][1000 genomes]
rs57330456	0.91[AMR][1000 genomes]
rs7223846	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
7	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv522130	chr17:15563393-15592762	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv518620	chr17:15563393-15608194	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11653189	ZNF286A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15555000-15587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:15555000-15587000	Weak transcription	Gastric	stomach
3	chr17:15555200-15587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:15555400-15587000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:15555600-15587000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr17:15555600-15587200	Weak transcription	Aorta	Aorta
7	chr17:15556600-15587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:15558800-15587000	Weak transcription	Ovary	ovary
9	chr17:15558800-15587000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr17:15558800-15587000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:15563400-15587000	Weak transcription	Right Ventricle	heart
12	chr17:15563800-15587000	Weak transcription	Pancreas	Pancrea
13	chr17:15564000-15587000	Weak transcription	Esophagus	oesophagus
14	chr17:15566600-15587000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr17:15568000-15587000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:15568000-15587000	Weak transcription	Fetal Intestine Large	intestine
17	chr17:15568000-15587000	Weak transcription	HSMM	muscle
18	chr17:15568200-15587000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:15568200-15587000	Weak transcription	Primary T cells from cord blood	blood
20	chr17:15568200-15587000	Weak transcription	Lung	lung
21	chr17:15568600-15587000	Weak transcription	Fetal Brain Female	brain
22	chr17:15572800-15587000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr17:15576800-15587000	Weak transcription	Left Ventricle	heart
24	chr17:15579000-15587000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:15581400-15587000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr17:15582000-15587000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:15582000-15587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:15582000-15587000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr17:15582600-15587000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr17:15582600-15587000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:15584000-15587000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:15584000-15587000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr17:15585800-15587000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr17:15585800-15587000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr17:15586000-15587200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:15586200-15587000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr17:15586200-15587000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr17:15586400-15587000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:15586400-15587000	Enhancers	Fetal Muscle Leg	muscle
40	chr17:15586400-15587000	Enhancers	Fetal Stomach	stomach
41	chr17:15586400-15587400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr17:15586400-15587800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:15586400-15588000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr17:15586400-15588000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr17:15586600-15587000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr17:15586600-15587000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr17:15586600-15587000	Enhancers	Primary hematopoietic stem cells	blood
48	chr17:15586600-15587000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr17:15586600-15587000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:15586600-15587000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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