Variant report

Variant	rs551010961
Chromosome Location	chr5:178977220-178977221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr5:178977140-178978429	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr5:178976979-178978457	PBDE	blood:	n/a	n/a
3	JUND	chr5:178976926-178978407	K562	blood:	n/a	chr5:178978002-178978011 chr5:178978006-178978015
4	PML	chr5:178976885-178978500	GM12878	blood:	n/a	n/a
5	STAT3	chr5:178976895-178977925	MCF10A-Er-Src	breast:	n/a	chr5:178977153-178977161 chr5:178977164-178977172
6	GATA2	chr5:178976902-178977347	SH-SY5Y	brain:	n/a	chr5:178977274-178977284
7	MAX	chr5:178977219-178977365	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:178977209-178978387	GM12891	blood:	n/a	n/a
9	MXI1	chr5:178976831-178978458	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr5:178977052-178978419	HepG2	liver:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
11	POLR2A	chr5:178976653-178978439	GM18951	blood:	n/a	n/a
12	SPI1	chr5:178977096-178977439	GM12878	blood:	n/a	chr5:178977361-178977370
13	POLR2A	chr5:178977023-178978359	PANC-1	pancreas:	n/a	n/a
14	RCOR1	chr5:178977042-178977374	K562	blood:	n/a	n/a
15	POLR2A	chr5:178976215-178978518	MCF10A-Er-Src	breast:	n/a	n/a
16	FOSL2	chr5:178977011-178977393	A549	lung:	n/a	n/a
17	POLR2A	chr5:178976810-178978503	K562	blood:	n/a	n/a
18	POLR2A	chr5:178977109-178978444	SK-N-SH	brain:	n/a	n/a
19	E2F4	chr5:178976944-178978396	MCF10A-Er-Src	breast:	n/a	chr5:178978011-178978021
20	POLR2A	chr5:178977051-178978434	GM15510	blood:	n/a	n/a
21	POLR2A	chr5:178977198-178978418	HCT-116	colon:	n/a	n/a
22	MAX	chr5:178977162-178978414	SK-N-SH	brain:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
23	YY1	chr5:178977151-178977494	GM12891	blood:	n/a	n/a
24	YY1	chr5:178977135-178977401	GM12892	blood:	n/a	n/a
25	MAX	chr5:178976859-178978522	MCF-7	breast:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
26	POLR2A	chr5:178977177-178978137	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr5:178977077-178977916	MCF-7	breast:	n/a	n/a
28	POLR2A	chr5:178977212-178977801	SK-N-MC	brain:	n/a	n/a
29	STAT3	chr5:178976933-178977809	MCF10A-Er-Src	breast:	n/a	chr5:178977153-178977161 chr5:178977164-178977172
30	TBP	chr5:178976890-178978305	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr5:178976941-178978421	HUVEC	blood vessel:	n/a	n/a
32	SPI1	chr5:178977142-178977358	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:178977058-178978405	HCT-116	colon:	n/a	n/a
34	POLR2A	chr5:178977056-178978579	HL-60	blood:	n/a	n/a
35	POLR2A	chr5:178976614-178978537	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:178977092-178978495	HL-60	blood:	n/a	n/a
37	POLR2A	chr5:178976178-178978474	K562	blood:	n/a	n/a
38	BHLHE40	chr5:178976912-178978367	GM12878	blood:	n/a	chr5:178978066-178978082 chr5:178978012-178978028 chr5:178978259-178978275
39	POLR2A	chr5:178977098-178977503	GM12891	blood:	n/a	n/a
40	MAX	chr5:178976734-178978575	A549	lung:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
41	MAZ	chr5:178976940-178978459	K562	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
42	POLR2A	chr5:178977167-178978425	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:178976739-178978482	HUVEC	blood vessel:	n/a	n/a
44	MAZ	chr5:178976962-178978362	GM12878	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
45	RELA	chr5:178977164-178978353	GM18951	blood:	n/a	n/a
46	MAX	chr5:178977126-178978398	HepG2	liver:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
47	POLR2A	chr5:178976175-178978544	GM12891	blood:	n/a	n/a
48	USF2	chr5:178977197-178977805	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:178976882-178977921	GM12878	blood:	n/a	n/a
50	POLR2A	chr5:178976902-178977862	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178977181-178977231	GM12891	blood:	n/a
2	chr5:178977181-178977231	GM12892	blood:	n/a
3	chr5:178977181-178977231	NH-A	brain:	n/a
4	chr5:178977181-178977231	MCF-7	breast:	n/a
5	chr5:178977181-178977231	HCM	heart:	n/a
6	chr5:178977181-178977231	SAEC	small airway:	n/a
7	chr5:178977181-178977231	T-47D	breast:	n/a
8	chr5:178977181-178977231	Caco-2	colon:	n/a
9	chr5:178977181-178977231	AG09309	skin:	n/a
10	chr5:178977181-178977231	MCF10A-Er-Src	breast:	n/a
11	chr5:178977181-178977231	SK-N-SH	brain:	n/a
12	chr5:178977181-178977231	HRPEpiC	eye:	n/a
13	chr5:178977181-178977231	PFSK-1	brain:	n/a
14	chr5:178977181-178977231	HRCEpiC	kidney:	n/a
15	chr5:178977181-178977231	HPAEpiC	pulmonary alveolar:	n/a
16	chr5:178977181-178977231	NHDF-neo	bronchial:	n/a
17	chr5:178977181-178977231	NB4	blood:	n/a
18	chr5:178977181-178977231	PANC-1	pancreas:	n/a
19	chr5:178977181-178977231	HMEC	breast:	n/a
20	chr5:178977181-178977231	HepG2	liver:	n/a
21	chr5:178977181-178977231	HCF	heart:	n/a
22	chr5:178977181-178977231	BJ	skin:	n/a
23	chr5:178977181-178977231	AG04449	skin:	fetal
24	chr5:178977181-178977231	PrEC	prostate:	n/a
25	chr5:178977181-178977231	SK-N-MC	brain:	n/a
26	chr5:178977181-178977231	HEK293	kidney:	embryo
27	chr5:178977181-178977231	SK-N-SH_RA	brain:	n/a
28	chr5:178977181-178977231	ECC-1	luminal epithelium:	n/a
29	chr5:178977181-178977231	Hela-S3	cervix:	n/a
30	chr5:178977181-178977231	IMR90	lung:	fetal
31	chr5:178977181-178977231	AG09319	gingival:	n/a
32	chr5:178977181-178977231	AG10803	skin:	n/a
33	chr5:178977181-178977231	GM06990	blood:	n/a
34	chr5:178977181-178977231	RPTEC	kidney:	n/a
35	chr5:178977181-178977231	HL-60	blood:	n/a
36	chr5:178977181-178977231	BE2_C	brain:	n/a
37	chr5:178977181-178977231	U87	brain:	n/a
38	chr5:178977181-178977231	ProgFib	skin:	n/a
39	chr5:178977181-178977231	K562	blood:	n/a
40	chr5:178977181-178977231	HCPEpiC	choroid plexus:	n/a
41	chr5:178977181-178977231	GM19239	blood:	n/a
42	chr5:178977181-178977231	Jurkat	blood:	n/a
43	chr5:178977181-178977231	NT2-D1	testis:	n/a
44	chr5:178977181-178977231	Hepatocyte	liver:	n/a
45	chr5:178977181-178977231	HNPCEpiC	eye:	n/a
46	chr5:178977181-178977231	A549	lung:	n/a
47	chr5:178977181-178977231	NHBE	bronchial:	n/a
48	chr5:178977181-178977231	LNCaP	prostate:	n/a
49	chr5:178977181-178977231	HAEpiC	amniotic membrane:	n/a
50	chr5:178977181-178977231	ovcar-3	ovarian:	n/a

(count:19 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
RUFY1	TF binding region
RUFY1	CpG island
ENSG00000253520	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000248275	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000244945	Chromatin interaction
ENSG00000251545	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000186594	Chromatin interaction
ENSG00000167716	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178976600-178977400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr5:178976600-178977400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr5:178976600-178977400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr5:178976600-178978600	Active TSS	Fetal Kidney	kidney
5	chr5:178976600-178979200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:178976600-178979200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:178976600-178979200	Active TSS	Duodenum Mucosa	Duodenum
8	chr5:178976600-178979200	Active TSS	Stomach Smooth Muscle	stomach
9	chr5:178976600-178979400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:178976800-178977400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr5:178976800-178977400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr5:178976800-178977400	Flanking Active TSS	Thymus	Thymus
13	chr5:178976800-178977400	Flanking Active TSS	HUVEC	blood vessel
14	chr5:178976800-178977400	Flanking Active TSS	NH-A	brain
15	chr5:178976800-178978000	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr5:178976800-178978200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr5:178976800-178978600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:178976800-178978600	Active TSS	Brain Germinal Matrix	brain
19	chr5:178976800-178978600	Active TSS	Colon Smooth Muscle	Colon
20	chr5:178976800-178978600	Active TSS	Fetal Lung	lung
21	chr5:178976800-178978800	Active TSS	Brain Cingulate Gyrus	brain
22	chr5:178976800-178978800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:178976800-178978800	Active TSS	Psoas Muscle	Psoas
24	chr5:178976800-178979000	Active TSS	Lung	lung
25	chr5:178976800-178979200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr5:178976800-178979200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:178976800-178979200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr5:178976800-178979400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr5:178976800-178979400	Active TSS	Colonic Mucosa	Colon
30	chr5:178977000-178977400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr5:178977000-178977400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:178977000-178977400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:178977000-178977400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:178977000-178977400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr5:178977000-178977600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:178977000-178977600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:178977000-178977600	Active TSS	Right Atrium	heart
38	chr5:178977000-178978000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:178977000-178978400	Active TSS	Brain Anterior Caudate	brain
40	chr5:178977000-178978400	Active TSS	Left Ventricle	heart
41	chr5:178977000-178978600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr5:178977000-178978600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:178977000-178978600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:178977000-178978600	Active TSS	Brain Hippocampus Middle	brain
45	chr5:178977000-178978600	Active TSS	Brain Substantia Nigra	brain
46	chr5:178977000-178978600	Active TSS	Fetal Brain Male	brain
47	chr5:178977000-178978600	Active TSS	Fetal Muscle Trunk	muscle
48	chr5:178977000-178978600	Active TSS	Placenta	Placenta
49	chr5:178977000-178978600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr5:178977000-178978600	Active TSS	Sigmoid Colon	Sigmoid Colon

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