Variant report

Variant	rs34214603
Chromosome Location	chr5:16917097-16917098
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	JUND	chr5:16916487-16917131	HCT-116	colon:	n/a	n/a
2	POLR2A	chr5:16916484-16917156	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr5:16916498-16917125	SK-N-SH	brain:	n/a	n/a
4	SP1	chr5:16916390-16917225	HCT-116	colon:	n/a	n/a
5	JUND	chr5:16916473-16917193	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr5:16916338-16917170	HCT-116	colon:	n/a	n/a
7	JUND	chr5:16916398-16917258	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr5:16916353-16917189	SK-N-SH	brain:	n/a	n/a
9	JUND	chr5:16916474-16917139	Hela-S3	cervix:	n/a	n/a
10	RFX5	chr5:16916519-16917245	Hela-S3	cervix:	n/a	n/a
11	FOSL1	chr5:16916492-16917184	HCT-116	colon:	n/a	n/a
12	GATA3	chr5:16916388-16917193	SK-N-SH	brain:	n/a	n/a
13	TEAD4	chr5:16916520-16917097	SK-N-SH	brain:	n/a	n/a
14	FOSL2	chr5:16916369-16917113	SK-N-SH	brain:	n/a	n/a
15	JUND	chr5:16916369-16917168	SK-N-SH	brain:	n/a	n/a
16	FOS	chr5:16916516-16917108	MCF10A-Er-Src	breast:	n/a	chr5:16916793-16916804
17	FOS	chr5:16916517-16917299	MCF10A-Er-Src	breast:	n/a	chr5:16916793-16916804
18	TCF12	chr5:16916366-16917109	SK-N-SH	brain:	n/a	n/a
19	FOSL1	chr5:16916459-16917246	HCT-116	colon:	n/a	n/a
20	CBX3	chr5:16916502-16917111	HCT-116	colon:	n/a	n/a
21	EP300	chr5:16916483-16917111	Hela-S3	cervix:	n/a	chr5:16916664-16916678 chr5:16916882-16916896
22	POLR2A	chr5:16916467-16917135	HUVEC	blood vessel:	n/a	n/a
23	TCF12	chr5:16916347-16917235	SK-N-SH	brain:	n/a	n/a
24	TBP	chr5:16916477-16917111	Hela-S3	cervix:	n/a	n/a
25	EP300	chr5:16916470-16917191	SK-N-SH	brain:	n/a	chr5:16916664-16916678 chr5:16916882-16916896
26	MAFK	chr5:16916268-16917220	Hela-S3	cervix:	n/a	chr5:16916311-16916322 chr5:16916762-16916772 chr5:16917038-16917055 chr5:16916311-16916322 chr5:16916796-16916805 chr5:16916762-16916771
27	JUND	chr5:16916533-16917184	HCT-116	colon:	n/a	n/a
28	SMC3	chr5:16916559-16917102	Hela-S3	cervix:	n/a	n/a
29	GATA3	chr5:16916325-16917286	SK-N-SH	brain:	n/a	n/a
30	SP1	chr5:16916472-16917150	HCT-116	colon:	n/a	n/a
31	FOS	chr5:16916544-16917106	HUVEC	blood vessel:	n/a	chr5:16916793-16916804
32	MAFK	chr5:16916563-16917115	IMR90	lung:	n/a	chr5:16916762-16916772 chr5:16917038-16917055 chr5:16916796-16916805 chr5:16916762-16916771

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16916910..16918830-chr5:16931583..16933515,2	MCF-7	breast:

Variant related genes	Relation type
MYO10	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13154383	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13154695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13155144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13171937	0.84[AMR][1000 genomes]
rs13172299	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13172386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13172506	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13172712	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13178371	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13178606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13178744	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17542583	0.90[AMR][1000 genomes]
rs17614456	0.90[AMR][1000 genomes]
rs17614462	0.90[AMR][1000 genomes]
rs34162327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34222409	0.90[AMR][1000 genomes]
rs34689597	0.85[EUR][1000 genomes]
rs34738746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34989400	0.90[AMR][1000 genomes]
rs35151606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71609335	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71609336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71609337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71609338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71609339	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71609340	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71609341	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71609342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71609344	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active 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 target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16902200-16919000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:16902200-16930000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:16904400-16933200	Weak transcription	Fetal Stomach	stomach
4	chr5:16910800-16924000	Weak transcription	Small Intestine	intestine
5	chr5:16912200-16919800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:16913800-16918800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:16913800-16922600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:16914000-16918800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:16914000-16931600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:16914000-16933200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:16914200-16918000	Weak transcription	Fetal Lung	lung
12	chr5:16914200-16930200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:16914400-16918400	Enhancers	HSMMtube	muscle
14	chr5:16914400-16918800	Weak transcription	Lung	lung
15	chr5:16914600-16917400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:16914600-16917400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:16914600-16918600	Enhancers	HMEC	breast
18	chr5:16914600-16918800	Weak transcription	Pancreas	Pancrea
19	chr5:16914600-16934400	Weak transcription	Psoas Muscle	Psoas
20	chr5:16914800-16917600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:16914800-16917600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:16914800-16918800	Weak transcription	Fetal Intestine Large	intestine
23	chr5:16915000-16924000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:16915200-16919400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:16915200-16920800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:16915200-16921800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:16915400-16919400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:16915400-16924000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:16915600-16919200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:16915600-16919200	Enhancers	NHDF-Ad	bronchial
31	chr5:16915600-16919600	Weak transcription	Stomach Mucosa	stomach
32	chr5:16916000-16918600	Enhancers	HSMM	muscle
33	chr5:16916000-16919200	Enhancers	Osteobl	bone
34	chr5:16916000-16919600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:16916000-16930800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:16916200-16917600	Flanking Active TSS	Hela-S3	cervix
37	chr5:16916200-16917800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:16916200-16918200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:16916200-16918400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:16916200-16918800	Weak transcription	Gastric	stomach
41	chr5:16916400-16917200	Flanking Active TSS	A549	lung
42	chr5:16916400-16917400	Weak transcription	Ovary	ovary
43	chr5:16916400-16917400	Enhancers	NHLF	lung
44	chr5:16916400-16918800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:16916400-16918800	Weak transcription	Esophagus	oesophagus
46	chr5:16916400-16920000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:16916600-16917200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:16916800-16917200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:16916800-16917200	Flanking Active TSS	NH-A	brain
50	chr5:16916800-16917600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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