Variant report

Variant	rs562596040
Chromosome Location	chr5:167718290-167718291
allele	C/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	MAZ	chr5:167718166-167719988	Hela-S3	cervix:	n/a	chr5:167718916-167718925
2	ZKSCAN1	chr5:167718205-167718704	Hela-S3	cervix:	n/a	n/a
3	MAX	chr5:167718233-167719174	MCF-7	breast:	n/a	chr5:167718916-167718925
4	CTCF	chr5:167718240-167718390	BE2_C	brain:	n/a	n/a
5	CTCF	chr5:167718220-167718370	HRE	kidney:	n/a	n/a
6	CHD2	chr5:167718128-167719602	Hela-S3	cervix:	n/a	chr5:167719438-167719448 chr5:167719413-167719423 chr5:167718942-167718952
7	USF2	chr5:167718209-167718363	Hela-S3	cervix:	n/a	n/a
8	MYC	chr5:167718025-167718727	MCF10A-Er-Src	breast:	n/a	n/a
9	TBP	chr5:167718175-167719107	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:167718216-167719568	HepG2	liver:	n/a	n/a
11	STAT3	chr5:167718114-167718589	MCF10A-Er-Src	breast:	n/a	n/a
12	BCL3	chr5:167718104-167718774	A549	lung:	n/a	n/a
13	STAT3	chr5:167718266-167718429	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr5:167718004-167718326	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMARCB1	chr5:167718239-167720226	Hela-S3	cervix:	n/a	n/a
16	PML	chr5:167718146-167718870	MCF-7	breast:	n/a	n/a
17	MAZ	chr5:167718080-167720173	IMR90	lung:	n/a	chr5:167718916-167718925
18	TCF12	chr5:167718061-167718388	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr5:167718290-167718700	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr5:167718186-167718843	ECC-1	luminal epithelium:	n/a	chr5:167718686-167718693
21	ZEB1	chr5:167718084-167718999	HepG2	liver:	n/a	chr5:167718485-167718492
22	YY1	chr5:167718287-167718803	HCT-116	colon:	n/a	chr5:167718656-167718667
23	RELA	chr5:167718044-167718747	GM19099	blood:	n/a	n/a
24	ZNF143	chr5:167718006-167718747	Hela-S3	cervix:	n/a	n/a
25	HDAC2	chr5:167718187-167718790	HepG2	liver:	n/a	n/a
26	CTCF	chr5:167718260-167718410	HPAF	blood vessel:	n/a	n/a
27	POLR2A	chr5:167718210-167718975	ECC-1	luminal epithelium:	n/a	n/a
28	ATF2	chr5:167718199-167718704	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:167718106-167720051	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:167718238-167718972	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr5:167718243-167719565	GM18505	blood:	n/a	n/a
32	SP1	chr5:167717987-167718858	A549	lung:	n/a	chr5:167718605-167718614 chr5:167718460-167718472 chr5:167718461-167718475 chr5:167718637-167718649
33	GTF2F1	chr5:167718284-167718806	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr5:167718155-167718651	H1-hESC	embryonic stem cell:	n/a	n/a
35	EP300	chr5:167718234-167719347	SK-N-SH	brain:	n/a	chr5:167719063-167719072 chr5:167719111-167719127 chr5:167718508-167718524 chr5:167718952-167718961 chr5:167718955-167718964 chr5:167719112-167719128 chr5:167718936-167718945
36	POLR2A	chr5:167716728-167722319	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:167718096-167718907	MCF10A-Er-Src	breast:	n/a	n/a
38	CHD2	chr5:167718042-167718760	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr5:167718283-167719251	GM18951	blood:	n/a	n/a
40	TEAD4	chr5:167718109-167718941	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr5:167718175-167719050	ECC-1	luminal epithelium:	n/a	n/a
42	TCF12	chr5:167717776-167718902	A549	lung:	n/a	chr5:167718686-167718693
43	HA-E2F1	chr5:167718201-167719148	MCF-7	breast:	n/a	chr5:167718937-167718947 chr5:167718939-167718951 chr5:167718535-167718545 chr5:167718625-167718635 chr5:167718956-167718966
44	MAX	chr5:167717753-167719758	A549	lung:	n/a	chr5:167718916-167718925
45	RAD21	chr5:167718255-167719644	H1-hESC	embryonic stem cell:	n/a	chr5:167718917-167718929 chr5:167718552-167718566
46	ZNF143	chr5:167718020-167718822	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:167718280-167718430	GM12872	blood:	n/a	n/a
48	RELA	chr5:167718051-167718964	GM19193	blood:	n/a	n/a
49	MXI1	chr5:167717927-167720093	IMR90	lung:	n/a	chr5:167719326-167719335
50	POLR2A	chr5:167718250-167718945	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:167703411..167705760-chr5:167716598..167718533,2	MCF-7	breast:
2	chr5:167696952..167697760-chr5:167717873..167718444,2	MCF-7	breast:
3	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
4	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: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3366386	chr5:167717474-167720872	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3397146	chr5:167717924-167720922	Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167712600-167718400	Weak transcription	Gastric	stomach
2	chr5:167717800-167718400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:167717800-167718400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr5:167717800-167718400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:167717800-167718400	Flanking Active TSS	HepG2	liver
6	chr5:167717800-167719200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr5:167717800-167719400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:167717800-167720000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr5:167717800-167720400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr5:167717800-167720800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr5:167718000-167718400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:167718000-167718400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:167718000-167718400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:167718000-167718400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:167718000-167718400	Active TSS	Primary hematopoietic stem cells	blood
16	chr5:167718000-167718400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:167718000-167718400	Enhancers	Brain Anterior Caudate	brain
18	chr5:167718000-167718400	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr5:167718000-167718400	Flanking Active TSS	Fetal Kidney	kidney
20	chr5:167718000-167718400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr5:167718000-167718400	Flanking Bivalent TSS/Enh	Placenta	Placenta
22	chr5:167718000-167718400	Bivalent Enhancer	Right Ventricle	heart
23	chr5:167718000-167718400	Enhancers	Stomach Mucosa	stomach
24	chr5:167718000-167718400	Flanking Active TSS	Hela-S3	cervix
25	chr5:167718000-167718400	Flanking Active TSS	NHEK	skin
26	chr5:167718000-167718600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:167718000-167718600	Flanking Active TSS	Liver	Liver
28	chr5:167718000-167718600	Flanking Active TSS	Fetal Brain Male	brain
29	chr5:167718000-167718600	Flanking Active TSS	Fetal Lung	lung
30	chr5:167718000-167718600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr5:167718000-167718600	Flanking Active TSS	GM12878-XiMat	blood
32	chr5:167718000-167718800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:167718000-167718800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:167718000-167719200	Enhancers	Primary B cells from peripheral blood	blood
35	chr5:167718000-167719400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:167718000-167719800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:167718000-167719800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:167718000-167719800	Active TSS	Esophagus	oesophagus
39	chr5:167718000-167720000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:167718000-167720400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:167718000-167720600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr5:167718200-167718400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
43	chr5:167718200-167718400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr5:167718200-167718400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr5:167718200-167718400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:167718200-167718400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr5:167718200-167718400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
48	chr5:167718200-167718400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr5:167718200-167718400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr5:167718200-167718400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle

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