Variant report

Variant	esv1664518
Chromosome Location	chr5:178977153-178977155
allele	n/a
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	ARID3A	chr5:178977115-178977357	HepG2	liver:	n/a	n/a
2	ATF2	chr5:178977014-178977777	GM12878	blood:	n/a	n/a
3	ATF2	chr5:178976968-178977468	GM12878	blood:	n/a	n/a
4	BCLAF1	chr5:178977094-178977496	GM12878	blood:	n/a	chr5:178977430-178977439
5	BHLHE40	chr5:178977025-178978380	K562	blood:	n/a	chr5:178978066-178978082 chr5:178978012-178978028 chr5:178978259-178978275
6	BHLHE40	chr5:178976912-178978367	GM12878	blood:	n/a	chr5:178978066-178978082 chr5:178978012-178978028 chr5:178978259-178978275
7	CEBPB	chr5:178976906-178978479	Hela-S3	cervix:	n/a	n/a
8	CHD1	chr5:178977040-178977366	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr5:178976957-178977842	GM12878	blood:	n/a	n/a
10	CREB1	chr5:178976917-178977858	GM12878	blood:	n/a	n/a
11	CREB1	chr5:178977079-178978466	GM12878	blood:	n/a	n/a
12	CTCF	chr5:178977024-178977446	K562	blood:	n/a	n/a
13	CTCF	chr5:178977140-178977290	HAc	cerebellar:	n/a	n/a
14	CTCF	chr5:178977100-178977250	AG04450	lung:	n/a	n/a
15	CUX1	chr5:178976917-178977459	K562	blood:	n/a	n/a
16	E2F4	chr5:178976944-178978396	MCF10A-Er-Src	breast:	n/a	chr5:178978011-178978021
17	E2F6	chr5:178977068-178977873	A549	lung:	n/a	n/a
18	EBF1	chr5:178977049-178977391	GM12878	blood:	n/a	n/a
19	EGR1	chr5:178976983-178978582	HCT-116	colon:	n/a	chr5:178978002-178978012
20	EGR1	chr5:178977110-178977870	K562	blood:	n/a	n/a
21	ELF1	chr5:178977138-178978405	GM12878	blood:	n/a	chr5:178977271-178977282
22	EP300	chr5:178976792-178977853	K562	blood:	n/a	chr5:178977273-178977282 chr5:178977154-178977163 chr5:178977141-178977155
23	EP300	chr5:178977020-178977923	GM12878	blood:	n/a	chr5:178977273-178977282 chr5:178977154-178977163 chr5:178977141-178977155
24	FOS	chr5:178976887-178977489	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr5:178976883-178977499	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr5:178976789-178977555	MCF10A-Er-Src	breast:	n/a	n/a
27	FOSL2	chr5:178977011-178977393	A549	lung:	n/a	n/a
28	FOXM1	chr5:178976984-178977496	GM12878	blood:	n/a	n/a
29	GABPA	chr5:178977011-178977888	MCF-7	breast:	n/a	n/a
30	GATA1	chr5:178976768-178978466	PBDE	blood:	n/a	chr5:178977274-178977284
31	GATA2	chr5:178976902-178977347	SH-SY5Y	brain:	n/a	chr5:178977274-178977284
32	GTF2F1	chr5:178976966-178977777	Hela-S3	cervix:	n/a	n/a
33	HA-E2F1	chr5:178977067-178978516	MCF-7	breast:	n/a	chr5:178978011-178978021
34	HCFC1	chr5:178976955-178978414	K562	blood:	n/a	n/a
35	HCFC1	chr5:178976879-178978618	Hela-S3	cervix:	n/a	n/a
36	HDAC2	chr5:178977027-178978469	MCF-7	breast:	n/a	chr5:178977139-178977153 chr5:178977142-178977156 chr5:178977138-178977152 chr5:178977141-178977155 chr5:178977140-178977154 chr5:178977143-178977157
37	HEY1	chr5:178977099-178977507	K562	blood:	n/a	n/a
38	IRF1	chr5:178976929-178978513	K562	blood:	n/a	n/a
39	JUND	chr5:178976854-178977809	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr5:178976926-178978407	K562	blood:	n/a	chr5:178978002-178978011 chr5:178978006-178978015
41	MAX	chr5:178977101-178977820	SK-N-SH	brain:	n/a	chr5:178977552-178977561
42	MAX	chr5:178976808-178978420	A549	lung:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
43	MAX	chr5:178976943-178978379	K562	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
44	MAX	chr5:178976827-178978435	NB4	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
45	MAX	chr5:178976859-178978522	MCF-7	breast:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
46	MAX	chr5:178976848-178978491	A549	lung:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
47	MAX	chr5:178977006-178978428	Hela-S3	cervix:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
48	MAX	chr5:178976734-178978575	A549	lung:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
49	MAX	chr5:178976926-178978503	GM12878	blood:	n/a	chr5:178977552-178977561 chr5:178978253-178978262
50	MAX	chr5:178977126-178978398	HepG2	liver:	n/a	chr5:178977552-178977561 chr5:178978253-178978262

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178977123-178977173	SK-N-SH_RA	brain:	n/a
2	chr5:178977123-178977173	NHDF-neo	bronchial:	n/a
3	chr5:178977123-178977173	SAEC	small airway:	n/a
4	chr5:178977123-178977173	BJ	skin:	n/a
5	chr5:178977123-178977173	T-47D	breast:	n/a
6	chr5:178977123-178977173	GM06990	blood:	n/a
7	chr5:178977123-178977173	HEEpiC	esophagus:	n/a
8	chr5:178977123-178977173	AoSMC	blood vessel:	n/a
9	chr5:178977123-178977173	HMEC	breast:	n/a
10	chr5:178977123-178977173	AG10803	skin:	n/a
11	chr5:178977123-178977173	NH-A	brain:	n/a
12	chr5:178977123-178977173	RPTEC	kidney:	n/a
13	chr5:178977123-178977173	HRE	kidney:	n/a
14	chr5:178977123-178977173	HNPCEpiC	eye:	n/a
15	chr5:178977123-178977173	K562	blood:	n/a
16	chr5:178977123-178977173	HIPEpiC	eye:	n/a
17	chr5:178977123-178977173	HAEpiC	amniotic membrane:	n/a
18	chr5:178977123-178977173	HepG2	liver:	n/a
19	chr5:178977123-178977173	HRCEpiC	kidney:	n/a
20	chr5:178977123-178977173	HL-60	blood:	n/a
21	chr5:178977123-178977173	Hela-S3	cervix:	n/a
22	chr5:178977123-178977173	Caco-2	colon:	n/a
23	chr5:178977123-178977173	HCT-116	colon:	n/a
24	chr5:178977123-178977173	CMK	blood:	n/a
25	chr5:178977123-178977173	HCF	heart:	n/a
26	chr5:178977123-178977173	GM19239	blood:	n/a
27	chr5:178977123-178977173	PrEC	prostate:	n/a
28	chr5:178977123-178977173	IMR90	lung:	fetal
29	chr5:178977123-178977173	A549	lung:	n/a
30	chr5:178977123-178977173	SKMC	muscle:	n/a
31	chr5:178977123-178977173	HCPEpiC	choroid plexus:	n/a
32	chr5:178977123-178977173	AG04450	lung:	fetal
33	chr5:178977123-178977173	Hepatocyte	liver:	n/a
34	chr5:178977123-178977173	LNCaP	prostate:	n/a
35	chr5:178977123-178977173	ECC-1	luminal epithelium:	n/a
36	chr5:178977123-178977173	MCF-7	breast:	n/a
37	chr5:178977123-178977173	SK-N-MC	brain:	n/a
38	chr5:178977123-178977173	ovcar-3	ovarian:	n/a
39	chr5:178977123-178977173	AG09319	gingival:	n/a
40	chr5:178977123-178977173	SK-N-SH	brain:	n/a
41	chr5:178977123-178977173	MCF10A-Er-Src	breast:	n/a
42	chr5:178977123-178977173	GM12878	blood:	n/a
43	chr5:178977123-178977173	ProgFib	skin:	n/a
44	chr5:178977123-178977173	U87	brain:	n/a
45	chr5:178977123-178977173	HEK293	kidney:	embryo
46	chr5:178977123-178977173	AG09309	skin:	n/a
47	chr5:178977123-178977173	PFSK-1	brain:	n/a
48	chr5:178977123-178977173	NHBE	bronchial:	n/a
49	chr5:178977123-178977173	GM12891	blood:	n/a
50	chr5:178977123-178977173	AG04449	skin:	fetal

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

Variant related genes	Relation type
RUFY1	TF binding region
RUFY1	CpG island
ENSG00000161021	chromatin interactions
ENSG00000186594	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000251545	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000253520	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000167716	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000244945	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 101 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78185536	chr5:178977155-178977156	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178976200-178977200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:178976200-178977200	Flanking Active TSS	Hela-S3	cervix
3	chr5:178976400-178977200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr5:178976400-178977200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr5:178976600-178977200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:178976600-178977200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:178976600-178977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:178976600-178977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:178976600-178977200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:178976600-178977200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:178976600-178977200	Enhancers	Spleen	Spleen
12	chr5:178976600-178977200	Flanking Active TSS	Dnd41	blood
13	chr5:178976600-178977200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:178976600-178977200	Flanking Active TSS	Osteobl	bone
15	chr5:178976600-178977400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr5:178976600-178977400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr5:178976600-178977400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr5:178976600-178978600	Active TSS	Fetal Kidney	kidney
19	chr5:178976600-178979200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:178976600-178979200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:178976600-178979200	Active TSS	Duodenum Mucosa	Duodenum
22	chr5:178976600-178979200	Active TSS	Stomach Smooth Muscle	stomach
23	chr5:178976600-178979400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr5:178976800-178977200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:178976800-178977200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:178976800-178977200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr5:178976800-178977200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr5:178976800-178977200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr5:178976800-178977200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr5:178976800-178977200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr5:178976800-178977200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr5:178976800-178977200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr5:178976800-178977200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr5:178976800-178977200	Flanking Active TSS	Fetal Thymus	thymus
35	chr5:178976800-178977200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr5:178976800-178977200	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr5:178976800-178977200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr5:178976800-178977200	Flanking Active TSS	A549	lung
39	chr5:178976800-178977200	Flanking Active TSS	HepG2	liver
40	chr5:178976800-178977200	Flanking Active TSS	HMEC	breast
41	chr5:178976800-178977200	Flanking Active TSS	K562	blood
42	chr5:178976800-178977400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr5:178976800-178977400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr5:178976800-178977400	Flanking Active TSS	Thymus	Thymus
45	chr5:178976800-178977400	Flanking Active TSS	HUVEC	blood vessel
46	chr5:178976800-178977400	Flanking Active TSS	NH-A	brain
47	chr5:178976800-178978000	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr5:178976800-178978200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr5:178976800-178978600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr5:178976800-178978600	Active TSS	Brain Germinal Matrix	brain

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