Variant report

Variant	rs542060650
Chromosome Location	chr5:111519210-111519211
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	STAT3	chr5:111519087-111519415	MCF10A-Er-Src	breast:	n/a	chr5:111519312-111519323
2	JUND	chr5:111519095-111519362	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr5:111519129-111519363	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr5:111518860-111519430	MCF10A-Er-Src	breast:	n/a	chr5:111518949-111518958 chr5:111519373-111519385
5	JUND	chr5:111518868-111519503	HCT-116	colon:	n/a	chr5:111518949-111518958 chr5:111519373-111519385
6	CEBPB	chr5:111519140-111519299	Hela-S3	cervix:	n/a	n/a
7	GATA2	chr5:111518766-111519235	SH-SY5Y	brain:	n/a	n/a
8	FOS	chr5:111518832-111519466	MCF10A-Er-Src	breast:	n/a	chr5:111518949-111518958 chr5:111519373-111519385
9	MYC	chr5:111518867-111519510	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:111518705-111519509	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr5:111519130-111519984	H1-neurons	neurons:	n/a	n/a
12	YY1	chr5:111519115-111519394	HCT-116	colon:	n/a	n/a
13	TEAD4	chr5:111519048-111519463	H1-hESC	embryonic stem cell:	n/a	n/a
14	STAT3	chr5:111519087-111519402	MCF10A-Er-Src	breast:	n/a	chr5:111519312-111519323
15	EGR1	chr5:111518720-111519473	HCT-116	colon:	n/a	n/a
16	ZNF263	chr5:111518724-111519481	HEK293-T-REx	kidney:	n/a	n/a
17	STAT3	chr5:111518998-111519441	MCF10A-Er-Src	breast:	n/a	chr5:111519312-111519323
18	MYC	chr5:111518979-111519403	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr5:111518984-111519997	H1-neurons	neurons:	n/a	n/a
20	TEAD4	chr5:111518959-111519558	HCT-116	colon:	n/a	n/a
21	GATA3	chr5:111518830-111519263	MCF-7	breast:	n/a	n/a
22	TCF7L2	chr5:111518874-111519248	MCF-7	breast:	n/a	n/a
23	FOS	chr5:111518834-111519452	MCF10A-Er-Src	breast:	n/a	chr5:111518949-111518958 chr5:111519373-111519385
24	STAT3	chr5:111519166-111519408	MCF10A-Er-Src	breast:	n/a	chr5:111519312-111519323
25	TEAD4	chr5:111518953-111519492	HCT-116	colon:	n/a	n/a
26	FOS	chr5:111518944-111519442	MCF10A-Er-Src	breast:	n/a	chr5:111518949-111518958 chr5:111519373-111519385
27	FOSL1	chr5:111518823-111519476	HCT-116	colon:	n/a	chr5:111518949-111518958 chr5:111519373-111519385

Variant related genes	Relation type
EPB41L4A	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
2	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
3	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
4	chr5:111502800-111546000	Weak transcription	Ovary	ovary
5	chr5:111503600-111527800	Weak transcription	Psoas Muscle	Psoas
6	chr5:111503600-111537400	Weak transcription	Lung	lung
7	chr5:111504800-111541400	Weak transcription	Right Ventricle	heart
8	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:111504800-111586400	Weak transcription	Gastric	stomach
10	chr5:111505000-111521000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:111505000-111537400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:111505600-111521000	Weak transcription	Placenta	Placenta
13	chr5:111505600-111541800	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:111510800-111520600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:111510800-111540000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:111510800-111547400	Weak transcription	HUVEC	blood vessel
17	chr5:111511000-111520400	Weak transcription	Liver	Liver
18	chr5:111518400-111520600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:111518600-111519600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:111518600-111519600	Enhancers	A549	lung
21	chr5:111518800-111519400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:111518800-111519400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:111518800-111519400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:111518800-111519400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:111518800-111519400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:111518800-111519400	Enhancers	Fetal Heart	heart
27	chr5:111518800-111519400	Genic enhancers	Left Ventricle	heart
28	chr5:111518800-111519600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:111518800-111519600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:111518800-111519600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:111518800-111519600	Strong transcription	Adipose Nuclei	Adipose
32	chr5:111518800-111519600	Enhancers	Brain Anterior Caudate	brain
33	chr5:111518800-111519600	Enhancers	NH-A	brain
34	chr5:111518800-111519800	Enhancers	Esophagus	oesophagus
35	chr5:111518800-111519800	Enhancers	HMEC	breast
36	chr5:111518800-111520600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:111519000-111519400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:111519000-111519400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:111519000-111519400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:111519000-111519400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:111519000-111519400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:111519000-111519400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:111519000-111519400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:111519000-111519600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:111519000-111519600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:111519000-111519600	Enhancers	Fetal Brain Female	brain
47	chr5:111519000-111546400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:111519200-111519400	Bivalent Enhancer	HSMM	muscle
49	chr5:111519200-111519800	Enhancers	NHEK	skin
50	chr5:111519200-111532600	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links