Variant report

Variant	esv3322172
Chromosome Location	chr5:178370246-178374444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:178371976-178372026	NB4	blood:	n/a	chr5:178371994-178372004 chr5:178372006-178372016
2	SPI1	chr5:178373740-178374170	HL-60	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178371587-178371637	HCM	heart:	n/a
2	chr5:178371587-178371637	HCM	heart:	n/a
3	chr5:178371587-178371637	HNPCEpiC	eye:	n/a
4	chr5:178371587-178371637	PrEC	prostate:	n/a
5	chr5:178371587-178371637	AG04449	skin:	fetal
6	chr5:178371587-178371637	HEK293	kidney:	embryo
7	chr5:178371587-178371637	CMK	blood:	n/a
8	chr5:178371587-178371637	T-47D	breast:	n/a
9	chr5:178371587-178371637	SK-N-MC	brain:	n/a
10	chr5:178371587-178371637	HEEpiC	esophagus:	n/a
11	chr5:178371587-178371637	PFSK-1	brain:	n/a
12	chr5:178371587-178371637	Caco-2	colon:	n/a
13	chr5:178371587-178371637	HCT-116	colon:	n/a
14	chr5:178371587-178371637	ProgFib	skin:	n/a
15	chr5:178371587-178371637	U87	brain:	n/a
16	chr5:178371587-178371637	BJ	skin:	n/a
17	chr5:178371587-178371637	AG09319	gingival:	n/a
18	chr5:178371587-178371637	HCF	heart:	n/a
19	chr5:178371587-178371637	Jurkat	blood:	n/a
20	chr5:178371587-178371637	NHBE	bronchial:	n/a
21	chr5:178371587-178371637	HMEC	breast:	n/a
22	chr5:178371587-178371637	AG10803	skin:	n/a
23	chr5:178371587-178371637	ovcar-3	ovarian:	n/a
24	chr5:178371587-178371637	SK-N-SH_RA	brain:	n/a
25	chr5:178371587-178371637	AoSMC	blood vessel:	n/a
26	chr5:178371587-178371637	SK-N-SH	brain:	n/a
27	chr5:178371587-178371637	K562	blood:	n/a
28	chr5:178371587-178371637	ECC-1	luminal epithelium:	n/a
29	chr5:178371587-178371637	HPAEpiC	pulmonary alveolar:	n/a
30	chr5:178371587-178371637	SKMC	muscle:	n/a
31	chr5:178371587-178371637	GM12878	blood:	n/a
32	chr5:178371587-178371637	NB4	blood:	n/a
33	chr5:178371587-178371637	NHDF-neo	bronchial:	n/a
34	chr5:178371587-178371637	AG04450	lung:	fetal
35	chr5:178371587-178371637	HCPEpiC	choroid plexus:	n/a
36	chr5:178371587-178371637	HL-60	blood:	n/a
37	chr5:178371587-178371637	HepG2	liver:	n/a
38	chr5:178371587-178371637	BE2_C	brain:	n/a
39	chr5:178371587-178371637	AG09309	skin:	n/a
40	chr5:178371587-178371637	GM12891	blood:	n/a
41	chr5:178371587-178371637	MCF10A-Er-Src	breast:	n/a
42	chr5:178371587-178371637	GM06990	blood:	n/a
43	chr5:178371587-178371637	HRPEpiC	eye:	n/a
44	chr5:178371587-178371637	Hela-S3	cervix:	n/a
45	chr5:178371587-178371637	GM19239	blood:	n/a
46	chr5:178371587-178371637	NH-A	brain:	n/a
47	chr5:178371587-178371637	HUVEC	blood vessel:	n/a
48	chr5:178371587-178371637	RPTEC	kidney:	n/a
49	chr5:178371587-178371637	HRCEpiC	kidney:	n/a
50	chr5:178371587-178371637	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ENSG00000272431	TF binding region
ENSG00000272431	CpG island

Extended variants
information (count: 184 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553654037	chr5:178370289-178370290	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185341446	chr5:178370291-178370292	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534268167	chr5:178370315-178370316	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558821339	chr5:178370317-178370318	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78501166	chr5:178370321-178370322	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189454919	chr5:178370350-178370351	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556380453	chr5:178370391-178370392	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368123976	chr5:178370395-178370396	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574404575	chr5:178370420-178370421	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115019648	chr5:178370483-178370484	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143485273	chr5:178370530-178370531	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571741704	chr5:178370536-178370537	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148015962	chr5:178370540-178370541	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549558978	chr5:178370549-178370550	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59987112	chr5:178370582-178370583	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs57438229	chr5:178370603-178370604	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs13184447	chr5:178370643-178370644	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181282769	chr5:178370706-178370707	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530439320	chr5:178370754-178370755	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548929644	chr5:178370755-178370756	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111415073	chr5:178370764-178370765	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527727862	chr5:178370765-178370766	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183576831	chr5:178370840-178370841	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112923471	chr5:178370880-178370881	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563535036	chr5:178370896-178370897	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370963668	chr5:178370900-178370901	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549729567	chr5:178370919-178370920	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567939616	chr5:178370923-178370924	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535347675	chr5:178370936-178370937	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553690133	chr5:178370937-178370938	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188302594	chr5:178370945-178370946	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181856481	chr5:178370970-178370971	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577984885	chr5:178371009-178371010	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557794849	chr5:178371014-178371015	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562963917	chr5:178371015-178371016	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78587235	chr5:178371057-178371058	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563051389	chr5:178371069-178371070	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575123321	chr5:178371146-178371147	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186984839	chr5:178371156-178371157	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560815032	chr5:178371165-178371166	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575965907	chr5:178371203-178371204	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527642304	chr5:178371204-178371205	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115226837	chr5:178371266-178371267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564574495	chr5:178371267-178371268	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531687600	chr5:178371273-178371274	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113285671	chr5:178371283-178371284	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374463911	chr5:178371312-178371313	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541616891	chr5:178371319-178371320	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35276347	chr5:178371322-178371323	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76281977	chr5:178371386-178371387	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Thoracic aortic aneurysm	21092924	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

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178353800-178374800	ZNF genes & repeats	Liver	Liver
2	chr5:178366400-178372600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:178366800-178370400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:178367000-178370400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr5:178367000-178374600	ZNF genes & repeats	Spleen	Spleen
6	chr5:178367400-178370600	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr5:178368400-178370400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:178368800-178370400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:178368800-178377000	Weak transcription	Psoas Muscle	Psoas
10	chr5:178369000-178371000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:178369000-178371200	Weak transcription	Brain Angular Gyrus	brain
12	chr5:178369000-178371200	Weak transcription	Fetal Kidney	kidney
13	chr5:178369000-178371200	Weak transcription	Left Ventricle	heart
14	chr5:178369000-178372800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:178369000-178373800	Weak transcription	Brain Substantia Nigra	brain
16	chr5:178369000-178374000	Weak transcription	Osteobl	bone
17	chr5:178369000-178374400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr5:178369000-178378400	Weak transcription	NHDF-Ad	bronchial
19	chr5:178369000-178378800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:178369000-178380200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:178369000-178384800	ZNF genes & repeats	Fetal Stomach	stomach
22	chr5:178369200-178371200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:178369200-178371200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:178369200-178371800	Weak transcription	Fetal Heart	heart
25	chr5:178369200-178372200	Weak transcription	Right Ventricle	heart
26	chr5:178369200-178373000	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:178369400-178374800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:178369400-178418200	ZNF genes & repeats	Fetal Brain Female	brain
29	chr5:178369600-178370600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:178369600-178370600	ZNF genes & repeats	Fetal Brain Male	brain
31	chr5:178369600-178370600	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr5:178369600-178370800	ZNF genes & repeats	Brain Hippocampus Middle	brain
33	chr5:178369600-178372200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:178369600-178373200	ZNF genes & repeats	Fetal Lung	lung
35	chr5:178369600-178373600	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr5:178369600-178374400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr5:178369600-178377400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr5:178369800-178373600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:178370000-178370600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr5:178370000-178376200	Weak transcription	Placenta	Placenta
41	chr5:178370000-178378400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:178370200-178370400	ZNF genes & repeats	Pancreas	Pancrea
43	chr5:178370200-178370600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:178370200-178371000	ZNF genes & repeats	Ovary	ovary
45	chr5:178370200-178374200	Strong transcription	Brain Anterior Caudate	brain
46	chr5:178370400-178371400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:178370400-178372400	Strong transcription	Pancreas	Pancrea
48	chr5:178370600-178371000	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:178370600-178371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:178370600-178371600	Weak transcription	Fetal Brain Male	brain

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