Variant report

Variant	rs12108717
Chromosome Location	chr5:167717163-167717164
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	RELA	chr5:167716776-167717455	GM18951	blood:	n/a	chr5:167717038-167717047 chr5:167717038-167717047 chr5:167717059-167717068 chr5:167717059-167717068
2	RELA	chr5:167716749-167717422	GM12878	blood:	n/a	chr5:167717038-167717047 chr5:167717038-167717047 chr5:167717059-167717068 chr5:167717059-167717068
3	MAX	chr5:167716855-167717633	A549	lung:	n/a	n/a
4	POLR2A	chr5:167716728-167722319	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr5:167716951-167717619	A549	lung:	n/a	n/a
6	RELA	chr5:167716760-167717424	GM18505	blood:	n/a	chr5:167717038-167717047 chr5:167717038-167717047 chr5:167717059-167717068 chr5:167717059-167717068
7	EP300	chr5:167716715-167717394	A549	lung:	n/a	chr5:167717241-167717255
8	RELA	chr5:167716832-167717395	GM15510	blood:	n/a	chr5:167717038-167717047 chr5:167717038-167717047 chr5:167717059-167717068 chr5:167717059-167717068
9	BCL3	chr5:167716725-167717270	A549	lung:	n/a	chr5:167717059-167717068 chr5:167717038-167717047
10	TCF12	chr5:167716816-167717421	A549	lung:	n/a	n/a
11	SPI1	chr5:167716876-167717198	GM12891	blood:	n/a	chr5:167717012-167717025 chr5:167717016-167717023
12	RELA	chr5:167716794-167717435	GM19099	blood:	n/a	chr5:167717038-167717047 chr5:167717038-167717047 chr5:167717059-167717068 chr5:167717059-167717068
13	RELA	chr5:167716841-167717395	GM19193	blood:	n/a	chr5:167717038-167717047 chr5:167717038-167717047 chr5:167717059-167717068 chr5:167717059-167717068
14	RELA	chr5:167716824-167717310	GM12892	blood:	n/a	chr5:167717038-167717047 chr5:167717038-167717047 chr5:167717059-167717068 chr5:167717059-167717068
15	TFAP2C	chr5:167716879-167717451	Hela-S3	cervix:	n/a	n/a
16	SPI1	chr5:167716613-167717409	GM12878	blood:	n/a	chr5:167717012-167717025 chr5:167717016-167717023
17	RELA	chr5:167716752-167717488	GM12891	blood:	n/a	chr5:167717038-167717047 chr5:167717038-167717047 chr5:167717059-167717068 chr5:167717059-167717068
18	BCL3	chr5:167716727-167717361	A549	lung:	n/a	chr5:167717059-167717068 chr5:167717038-167717047
19	FOS	chr5:167716980-167717174	MCF10A-Er-Src	breast:	n/a	n/a
20	TEAD4	chr5:167716961-167717265	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:167717038-167717327	Hela-S3	cervix:	n/a	n/a
22	RELA	chr5:167716846-167717434	GM10847	blood:	n/a	chr5:167717038-167717047 chr5:167717038-167717047 chr5:167717059-167717068 chr5:167717059-167717068

No.	Distal block	Cell Line	Cell type
1	chr5:167703411..167705760-chr5:167716598..167718533,2	MCF-7	breast:
2	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
3	chr5:167716529..167718566-chr5:167880589..167883099,2	MCF-7	breast:

Variant related genes	Relation type
WWC1	TF binding region
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10051069	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475874	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514628	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12517127	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12519918	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12522231	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1496398	1.00[CHB][hapmap]
rs17051843	0.81[EUR][1000 genomes]
rs17632741	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs72822615	0.89[EUR][1000 genomes]
rs72838318	1.00[ASN][1000 genomes]
rs72838320	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838323	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72838333	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72838335	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7718390	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721532	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167704600-167718000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:167709600-167718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:167709600-167718000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:167709600-167718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:167712600-167718400	Weak transcription	Gastric	stomach
6	chr5:167713000-167718000	Enhancers	Fetal Brain Male	brain
7	chr5:167713200-167718200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:167713400-167717800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:167713400-167718000	Enhancers	GM12878-XiMat	blood
10	chr5:167713600-167718000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:167713600-167718000	Enhancers	Placenta	Placenta
12	chr5:167713800-167717800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:167713800-167718000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:167714000-167718200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:167714400-167717400	Enhancers	Fetal Intestine Large	intestine
16	chr5:167714600-167718200	Enhancers	Fetal Intestine Small	intestine
17	chr5:167715200-167717200	Enhancers	Stomach Mucosa	stomach
18	chr5:167715800-167718000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:167715800-167718000	Weak transcription	Brain Anterior Caudate	brain
20	chr5:167715800-167718000	Weak transcription	Colonic Mucosa	Colon
21	chr5:167715800-167718000	Weak transcription	Esophagus	oesophagus
22	chr5:167715800-167718200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:167716000-167718000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:167716200-167717200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:167716200-167717200	Weak transcription	HSMMtube	muscle
26	chr5:167716200-167717400	Weak transcription	Fetal Brain Female	brain
27	chr5:167716200-167717800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:167716200-167717800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:167716200-167717800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:167716200-167717800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:167716200-167718000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:167716200-167718000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:167716200-167718000	Enhancers	Liver	Liver
34	chr5:167716200-167718000	Weak transcription	Fetal Lung	lung
35	chr5:167716200-167718000	Enhancers	HMEC	breast
36	chr5:167716200-167718200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:167716200-167718200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:167716400-167717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:167716400-167717200	Weak transcription	Pancreas	Pancrea
40	chr5:167716400-167717800	Enhancers	HepG2	liver
41	chr5:167716400-167718000	Enhancers	Hela-S3	cervix
42	chr5:167716400-167718000	Enhancers	NHEK	skin
43	chr5:167716400-167718200	Weak transcription	NH-A	brain
44	chr5:167716600-167717200	Weak transcription	Fetal Kidney	kidney
45	chr5:167716600-167717800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:167716800-167717400	Flanking Active TSS	A549	lung
47	chr5:167717000-167717800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:167717000-167718200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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