Variant report

Variant	rs537290690
Chromosome Location	chr5:178976959-178976960
allele	A/T
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	chr5:178976926-178978407	K562	blood:	n/a	chr5:178978002-178978011 chr5:178978006-178978015
2	PML	chr5:178976885-178978500	GM12878	blood:	n/a	n/a
3	MAX	chr5:178976806-178977107	H1-hESC	embryonic stem cell:	n/a	n/a
4	STAT3	chr5:178976895-178977925	MCF10A-Er-Src	breast:	n/a	chr5:178977153-178977161 chr5:178977164-178977172
5	GATA2	chr5:178976902-178977347	SH-SY5Y	brain:	n/a	chr5:178977274-178977284
6	GATA3	chr5:178976851-178977138	SH-SY5Y	brain:	n/a	n/a
7	MXI1	chr5:178976831-178978458	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:178976653-178978439	GM18951	blood:	n/a	n/a
9	POLR2A	chr5:178976215-178978518	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:178976810-178978503	K562	blood:	n/a	n/a
11	E2F4	chr5:178976944-178978396	MCF10A-Er-Src	breast:	n/a	chr5:178978011-178978021
12	MAX	chr5:178976859-178978522	MCF-7	breast:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
13	STAT3	chr5:178976933-178977809	MCF10A-Er-Src	breast:	n/a	chr5:178977153-178977161 chr5:178977164-178977172
14	TBP	chr5:178976890-178978305	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:178976941-178978421	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr5:178976614-178978537	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:178976178-178978474	K562	blood:	n/a	n/a
18	BHLHE40	chr5:178976912-178978367	GM12878	blood:	n/a	chr5:178978066-178978082 chr5:178978012-178978028 chr5:178978259-178978275
19	MAX	chr5:178976734-178978575	A549	lung:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
20	MAZ	chr5:178976940-178978459	K562	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
21	POLR2A	chr5:178976739-178978482	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr5:178976175-178978544	GM12891	blood:	n/a	n/a
23	POLR2A	chr5:178976882-178977921	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:178976902-178977862	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr5:178976785-178978504	IMR90	lung:	n/a	n/a
26	NFATC1	chr5:178976886-178977511	GM12878	blood:	n/a	n/a
27	CUX1	chr5:178976917-178977459	K562	blood:	n/a	n/a
28	MTA3	chr5:178976914-178978576	GM12878	blood:	n/a	n/a
29	STAT5A	chr5:178976753-178977798	GM12878	blood:	n/a	chr5:178977153-178977161 chr5:178977164-178977172
30	FOS	chr5:178976887-178977489	MCF10A-Er-Src	breast:	n/a	n/a
31	GATA1	chr5:178976768-178978466	PBDE	blood:	n/a	chr5:178977274-178977284
32	POLR2A	chr5:178974241-178979045	K562	blood:	n/a	n/a
33	POLR2A	chr5:178976618-178978522	GM12892	blood:	n/a	n/a
34	POLR2A	chr5:178976601-178977074	HepG2	liver:	n/a	n/a
35	MYC	chr5:178976850-178978430	K562	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
36	SPI1	chr5:178976898-178977504	GM12878	blood:	n/a	chr5:178977361-178977370
37	ZNF384	chr5:178976830-178978409	K562	blood:	n/a	n/a
38	HCFC1	chr5:178976955-178978414	K562	blood:	n/a	n/a
39	MYC	chr5:178976909-178978493	NB4	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
40	TBP	chr5:178976924-178978424	K562	blood:	n/a	n/a
41	HCFC1	chr5:178976879-178978618	Hela-S3	cervix:	n/a	n/a
42	MAX	chr5:178976943-178978379	K562	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
43	TBL1XR1	chr5:178976867-178977912	K562	blood:	n/a	n/a
44	NR2F2	chr5:178976831-178977506	K562	blood:	n/a	n/a
45	MYC	chr5:178976838-178978483	K562	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
46	POLR2A	chr5:178976257-178978451	K562	blood:	n/a	n/a
47	MAX	chr5:178976827-178978435	NB4	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
48	POLR2A	chr5:178976539-178978553	Raji	blood:	n/a	n/a
49	FOS	chr5:178976789-178977555	MCF10A-Er-Src	breast:	n/a	n/a
50	JUND	chr5:178976854-178977809	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178976811..178980871-chr5:179039605..179043375,3	K562	blood:
2	chr5:178975690..178977861-chr5:179029775..179032308,2	K562	blood:
3	chr5:178961944..178964885-chr5:178975318..178977306,2	MCF-7	breast:
4	chr5:178976464..178979366-chr5:179003151..179005535,3	MCF-7	breast:
5	chr5:178976539..178978410-chr5:179046983..179049342,2	MCF-7	breast:
6	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
7	chr5:178975834..178978833-chr5:179245271..179247079,2	K562	blood:
8	chr5:178953283..178956112-chr5:178976067..178979094,3	MCF-7	breast:
9	chr5:178947804..178950473-chr5:178974779..178977233,2	MCF-7	breast:
10	chr5:178975801..178977799-chr5:178987617..178990258,3	K562	blood:
11	chr5:178976591..178978128-chr5:179049452..179051597,2	MCF-7	breast:
12	chr5:178975871..178983601-chr5:179047224..179052413,15	K562	blood:
13	chr5:178976850..178979581-chr5:179125172..179127163,2	K562	blood:
14	chr17:1619473..1620028-chr5:178976878..178977774,2	Hela-S3	cervix:
15	chr5:178976329..178981059-chr5:179123787..179127407,6	K562	blood:
16	chr5:178976299..178979036-chr5:178987617..178989903,2	K562	blood:
17	chr5:178976757..178979190-chr5:180687275..180690244,2	K562	blood:
18	chr5:178976288..178979908-chr5:179158372..179161228,3	MCF-7	breast:
19	chr5:178975751..178978306-chr5:178993914..178996502,2	MCF-7	breast:

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000251545	Chromatin interaction
ENSG00000167716	Chromatin interaction
ENSG00000186594	Chromatin interaction
ENSG00000253520	Chromatin interaction
ENSG00000244945	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000248275	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000183718	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178958000-178977000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:178975600-178977000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:178976200-178977000	Enhancers	Liver	Liver
4	chr5:178976200-178977000	Enhancers	NHDF-Ad	bronchial
5	chr5:178976200-178977200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:178976200-178977200	Flanking Active TSS	Hela-S3	cervix
7	chr5:178976400-178977200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:178976400-178977200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:178976600-178977000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:178976600-178977000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:178976600-178977000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:178976600-178977000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:178976600-178977000	Enhancers	Primary B cells from peripheral blood	blood
14	chr5:178976600-178977000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:178976600-178977000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:178976600-178977000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:178976600-178977000	Enhancers	Esophagus	oesophagus
18	chr5:178976600-178977000	Enhancers	Fetal Intestine Large	intestine
19	chr5:178976600-178977000	Enhancers	Placenta	Placenta
20	chr5:178976600-178977000	Enhancers	Left Ventricle	heart
21	chr5:178976600-178977000	Enhancers	Pancreas	Pancrea
22	chr5:178976600-178977000	Enhancers	Right Atrium	heart
23	chr5:178976600-178977000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr5:178976600-178977000	Enhancers	Small Intestine	intestine
25	chr5:178976600-178977000	Enhancers	HSMM	muscle
26	chr5:178976600-178977000	Flanking Active TSS	NHLF	lung
27	chr5:178976600-178977200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr5:178976600-178977200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:178976600-178977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:178976600-178977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:178976600-178977200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:178976600-178977200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:178976600-178977200	Enhancers	Spleen	Spleen
34	chr5:178976600-178977200	Flanking Active TSS	Dnd41	blood
35	chr5:178976600-178977200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr5:178976600-178977200	Flanking Active TSS	Osteobl	bone
37	chr5:178976600-178977400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr5:178976600-178977400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr5:178976600-178977400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr5:178976600-178978600	Active TSS	Fetal Kidney	kidney
41	chr5:178976600-178979200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:178976600-178979200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:178976600-178979200	Active TSS	Duodenum Mucosa	Duodenum
44	chr5:178976600-178979200	Active TSS	Stomach Smooth Muscle	stomach
45	chr5:178976600-178979400	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr5:178976800-178977000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr5:178976800-178977000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:178976800-178977000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:178976800-178977000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:178976800-178977000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links