Variant report

Variant	rs538047952
Chromosome Location	chr5:178976785-178976786
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:178976653-178978439	GM18951	blood:	n/a	n/a
2	POLR2A	chr5:178976215-178978518	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:178976614-178978537	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:178976178-178978474	K562	blood:	n/a	n/a
5	MAX	chr5:178976734-178978575	A549	lung:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
6	POLR2A	chr5:178976739-178978482	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr5:178976175-178978544	GM12891	blood:	n/a	n/a
8	POLR2A	chr5:178976785-178978504	IMR90	lung:	n/a	n/a
9	STAT5A	chr5:178976753-178977798	GM12878	blood:	n/a	chr5:178977153-178977161 chr5:178977164-178977172
10	GATA1	chr5:178976768-178978466	PBDE	blood:	n/a	chr5:178977274-178977284
11	POLR2A	chr5:178976597-178976850	K562	blood:	n/a	n/a
12	POLR2A	chr5:178974241-178979045	K562	blood:	n/a	n/a
13	POLR2A	chr5:178976618-178978522	GM12892	blood:	n/a	n/a
14	POLR2A	chr5:178976601-178977074	HepG2	liver:	n/a	n/a
15	CTCF	chr5:178976768-178976845	GM13976	blood:	n/a	n/a
16	POLR2A	chr5:178976257-178978451	K562	blood:	n/a	n/a
17	POLR2A	chr5:178976539-178978553	Raji	blood:	n/a	n/a
18	POLR2A	chr5:178976467-178978499	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:178976068-178978510	GM12878	blood:	n/a	n/a
20	MXI1	chr5:178976647-178978502	IMR90	lung:	n/a	n/a
21	TEAD4	chr5:178976779-178977895	K562	blood:	n/a	n/a
22	MAZ	chr5:178976715-178978622	IMR90	lung:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
23	POLR2A	chr5:178976731-178978459	GM18505	blood:	n/a	n/a
24	POLR2A	chr5:178976229-178978520	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr5:178976731-178978565	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178975690..178977861-chr5:179029775..179032308,2	K562	blood:
2	chr5:178961944..178964885-chr5:178975318..178977306,2	MCF-7	breast:
3	chr5:178976464..178979366-chr5:179003151..179005535,3	MCF-7	breast:
4	chr5:178976539..178978410-chr5:179046983..179049342,2	MCF-7	breast:
5	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
6	chr5:178975834..178978833-chr5:179245271..179247079,2	K562	blood:
7	chr5:178953283..178956112-chr5:178976067..178979094,3	MCF-7	breast:
8	chr5:178947804..178950473-chr5:178974779..178977233,2	MCF-7	breast:
9	chr5:178975801..178977799-chr5:178987617..178990258,3	K562	blood:
10	chr5:178976591..178978128-chr5:179049452..179051597,2	MCF-7	breast:
11	chr5:178975871..178983601-chr5:179047224..179052413,15	K562	blood:
12	chr5:178976329..178981059-chr5:179123787..179127407,6	K562	blood:
13	chr5:178976299..178979036-chr5:178987617..178989903,2	K562	blood:
14	chr5:178976757..178979190-chr5:180687275..180690244,2	K562	blood:
15	chr5:178976288..178979908-chr5:179158372..179161228,3	MCF-7	breast:
16	chr5:178975751..178978306-chr5:178993914..178996502,2	MCF-7	breast:

No data

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000161011	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000248275	Chromatin interaction
ENSG00000251545	Chromatin interaction
ENSG00000183718	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000244945	Chromatin interaction
ENSG00000253520	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv531996	chr5:178669297-178989687	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
6	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
7	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
10	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	esv3425461	chr5:178976371-178979219	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178958000-178976800	Weak transcription	Fetal Intestine Small	intestine
2	chr5:178958000-178977000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:178972000-178976800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:178972200-178976800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:178975000-178976800	Enhancers	Adipose Nuclei	Adipose
6	chr5:178975600-178977000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:178976200-178976800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:178976200-178976800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:178976200-178976800	Enhancers	Primary B cells from cord blood	blood
10	chr5:178976200-178976800	Enhancers	Fetal Muscle Leg	muscle
11	chr5:178976200-178976800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:178976200-178976800	Enhancers	Thymus	Thymus
13	chr5:178976200-178977000	Enhancers	Liver	Liver
14	chr5:178976200-178977000	Enhancers	NHDF-Ad	bronchial
15	chr5:178976200-178977200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:178976200-178977200	Flanking Active TSS	Hela-S3	cervix
17	chr5:178976400-178976800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:178976400-178976800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:178976400-178976800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:178976400-178976800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:178976400-178976800	Enhancers	Fetal Lung	lung
22	chr5:178976400-178976800	Enhancers	Fetal Muscle Trunk	muscle
23	chr5:178976400-178976800	Enhancers	HepG2	liver
24	chr5:178976400-178976800	Enhancers	K562	blood
25	chr5:178976400-178977200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:178976400-178977200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr5:178976600-178976800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:178976600-178976800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:178976600-178976800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:178976600-178976800	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:178976600-178976800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:178976600-178976800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr5:178976600-178976800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr5:178976600-178976800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:178976600-178976800	Enhancers	Brain Anterior Caudate	brain
36	chr5:178976600-178976800	Enhancers	Fetal Thymus	thymus
37	chr5:178976600-178976800	Flanking Active TSS	Lung	lung
38	chr5:178976600-178976800	Flanking Active TSS	Psoas Muscle	Psoas
39	chr5:178976600-178976800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr5:178976600-178976800	Enhancers	Rectal Smooth Muscle	rectum
41	chr5:178976600-178976800	Enhancers	A549	lung
42	chr5:178976600-178976800	Enhancers	GM12878-XiMat	blood
43	chr5:178976600-178976800	Enhancers	HMEC	breast
44	chr5:178976600-178976800	Enhancers	HUVEC	blood vessel
45	chr5:178976600-178976800	Enhancers	NH-A	brain
46	chr5:178976600-178977000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:178976600-178977000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:178976600-178977000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:178976600-178977000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:178976600-178977000	Enhancers	Primary B cells from peripheral blood	blood

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