Variant report

Variant	rs7184792
Chromosome Location	chr16:12848389-12848390
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	FOXA2	chr16:12847679-12848442	HepG2	liver:	n/a	n/a
2	TEAD4	chr16:12847665-12848691	HepG2	liver:	n/a	n/a
3	NFIC	chr16:12847764-12848421	HepG2	liver:	n/a	n/a
4	EP300	chr16:12847313-12848513	HepG2	liver:	n/a	chr16:12847725-12847739 chr16:12847726-12847735
5	MAX	chr16:12847801-12848394	HepG2	liver:	n/a	n/a
6	EP300	chr16:12847829-12848391	HepG2	liver:	n/a	n/a
7	MBD4	chr16:12847461-12848624	HepG2	liver:	n/a	n/a
8	CEBPB	chr16:12847663-12848401	HepG2	liver:	n/a	n/a
9	FOXA1	chr16:12847749-12848405	HepG2	liver:	n/a	n/a
10	CEBPB	chr16:12847589-12848419	HepG2	liver:	n/a	n/a
11	MYBL2	chr16:12847619-12848483	HepG2	liver:	n/a	n/a
12	NFIC	chr16:12847762-12848439	HepG2	liver:	n/a	n/a
13	ARID3A	chr16:12847867-12848576	HepG2	liver:	n/a	n/a
14	FOXA1	chr16:12847737-12848460	HepG2	liver:	n/a	n/a
15	SP1	chr16:12847744-12848438	HepG2	liver:	n/a	chr16:12848362-12848369
16	HDAC2	chr16:12847762-12848514	HepG2	liver:	n/a	n/a
17	FOXA1	chr16:12847774-12848411	HepG2	liver:	n/a	n/a
18	RAD21	chr16:12847708-12848425	HepG2	liver:	n/a	n/a
19	NR2F2	chr16:12847763-12848437	HepG2	liver:	n/a	n/a
20	HDAC2	chr16:12847702-12848639	HepG2	liver:	n/a	chr16:12847724-12847738
21	MYBL2	chr16:12847581-12848418	HepG2	liver:	n/a	n/a
22	FOXA1	chr16:12847738-12848421	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:12847774-12848464	HepG2	liver:	n/a	n/a
24	CREB1	chr16:12847662-12848550	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000261158	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10852357	0.82[CEU][hapmap]
rs11075149	0.87[GIH][hapmap]
rs11075150	0.87[GIH][hapmap]
rs11075153	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs11075154	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap];0.95[ASN][1000 genomes]
rs12443699	0.93[ASN][1000 genomes]
rs12925522	0.80[CEU][hapmap]
rs1346491	0.81[GIH][hapmap]
rs2865628	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2865630	0.95[CHB][hapmap];0.93[ASN][1000 genomes]
rs2865631	0.93[ASN][1000 genomes]
rs2865632	0.92[ASN][1000 genomes]
rs4780473	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs7185373	0.80[CEU][hapmap]
rs7187244	0.90[EUR][1000 genomes]
rs8044602	0.93[ASN][1000 genomes]
rs8048866	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs9938529	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
4	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active 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	19 gene(s)	inside rSNPs	diseases
5	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1052802	chr16:12766360-12964248	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1036493	chr16:12817416-12881078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	esv2751547	chr16:12817920-12882336	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv2751548	chr16:12817920-12892036	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	nsv1052892	chr16:12824219-12881078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv525286	chr16:12826785-12878592	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv571480	chr16:12826785-12878592	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv571481	chr16:12826785-12880446	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	esv2751549	chr16:12829006-12880446	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7184792	FLJ11151	Cis_1M	lymphoblastoid	RTeQTL
rs7184792	CPPED1	cis	cerebellum	SCAN
rs7184792	CPPED1	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12826600-12851000	Weak transcription	Brain Angular Gyrus	brain
2	chr16:12834800-12873600	Weak transcription	Aorta	Aorta
3	chr16:12835600-12863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:12835600-12865200	Weak transcription	Ovary	ovary
5	chr16:12835600-12869800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:12835800-12851000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr16:12839000-12851400	Weak transcription	Spleen	Spleen
8	chr16:12839200-12852200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:12839200-12863600	Weak transcription	Fetal Intestine Large	intestine
10	chr16:12839200-12869000	Weak transcription	Primary B cells from cord blood	blood
11	chr16:12839400-12848800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr16:12839600-12848800	Weak transcription	HSMM	muscle
13	chr16:12839600-12851600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:12839600-12854400	Weak transcription	Fetal Intestine Small	intestine
15	chr16:12839600-12865000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:12839600-12873600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:12842000-12851200	Weak transcription	Fetal Brain Female	brain
18	chr16:12843000-12851600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:12844400-12849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:12845200-12851400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:12845600-12851200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr16:12845600-12851200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:12846200-12848800	Weak transcription	Brain Hippocampus Middle	brain
24	chr16:12846200-12850800	Weak transcription	Brain Substantia Nigra	brain
25	chr16:12846200-12851600	Weak transcription	K562	blood
26	chr16:12846400-12851000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:12846800-12856200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr16:12847200-12848800	Enhancers	Primary hematopoietic stem cells	blood
29	chr16:12847200-12848800	Flanking Active TSS	HepG2	liver
30	chr16:12847600-12848600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:12847600-12849600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr16:12847600-12852200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr16:12847600-12865000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr16:12847800-12849000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:12847800-12849400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr16:12847800-12849600	Enhancers	Osteobl	bone
37	chr16:12848000-12848400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:12848000-12848600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:12848000-12849600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:12848000-12853400	Enhancers	Liver	Liver
41	chr16:12848000-12858400	Weak transcription	Gastric	stomach
42	chr16:12848200-12857000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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