Variant report

Variant	esv3471133
Chromosome Location	chr5:178386746-178392344
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	CTCF	chr5:178389700-178389850	GM12866	blood:	n/a	n/a
2	KAP1	chr5:178392155-178393062	HEK293	kidney:	n/a	n/a
3	KAP1	chr5:178392194-178392950	K562	blood:	n/a	n/a
4	POLR2A	chr5:178389082-178389182	MCF10A-Er-Src	breast:	n/a	n/a
5	SETDB1	chr5:178391407-178393105	K562	blood:	n/a	n/a
6	SETDB1	chr5:178392126-178393083	U2OS	brain:	n/a	n/a
7	STAT3	chr5:178390838-178390933	MCF10A-Er-Src	breast:	n/a	n/a
8	TBP	chr5:178390511-178390549	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF12	chr5:178392325-178392997	A549	lung:	n/a	n/a
10	ZNF274	chr5:178391661-178393227	NT2-D1	testis:	n/a	n/a
11	ZNF274	chr5:178392126-178392891	GM12878	blood:	n/a	n/a
12	ZNF274	chr5:178392153-178393008	K562	blood:	n/a	n/a
13	ZNF274	chr5:178392111-178393062	HepG2	liver:	n/a	n/a
14	ZNF274	chr5:178391748-178393200	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF274	chr5:178391437-178393242	K562	blood:	n/a	n/a
16	ZNF274	chr5:178391683-178393293	GM08714	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254035	TF binding region

Extended variants
information (count: 227 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542701297	chr5:178386756-178386757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560856080	chr5:178386764-178386765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375598321	chr5:178386798-178386799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62395109	chr5:178386808-178386809	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559539089	chr5:178386848-178386849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574204528	chr5:178386852-178386853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189730325	chr5:178386853-178386854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376539063	chr5:178386857-178386858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3857417	chr5:178386869-178386870	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191791940	chr5:178386878-178386879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71577031	chr5:178386886-178386887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386695554	chr5:178386895-178386896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535142345	chr5:178386896-178386897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3857414	chr5:178386897-178386898	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577919003	chr5:178386909-178386910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550320065	chr5:178386934-178386935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555356208	chr5:178386939-178386940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538933450	chr5:178386946-178386947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554563623	chr5:178386952-178386953	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572375659	chr5:178386966-178386967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557017140	chr5:178387026-178387027	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575163177	chr5:178387053-178387054	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542288420	chr5:178387054-178387055	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183580442	chr5:178387060-178387061	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572818963	chr5:178387064-178387065	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4700979	chr5:178387083-178387084	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188316636	chr5:178387140-178387141	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533393689	chr5:178387182-178387183	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551649273	chr5:178387221-178387222	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546306673	chr5:178387262-178387263	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372217790	chr5:178387263-178387264	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372662992	chr5:178387362-178387363	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530911948	chr5:178387383-178387384	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113383870	chr5:178387390-178387391	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567665214	chr5:178387420-178387421	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140368412	chr5:178387422-178387423	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547116092	chr5:178387456-178387457	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571460754	chr5:178387472-178387473	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538873933	chr5:178387481-178387482	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181865236	chr5:178387494-178387495	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575423580	chr5:178387504-178387505	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536565082	chr5:178387518-178387519	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578140322	chr5:178387525-178387526	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554228514	chr5:178387563-178387564	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371055380	chr5:178387605-178387606	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72816656	chr5:178387677-178387678	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72816658	chr5:178387684-178387685	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372561373	chr5:178387698-178387699	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536466679	chr5:178387760-178387761	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73334737	chr5:178387820-178387821	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Melanoma	20877625	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178369400-178418200	ZNF genes & repeats	Fetal Brain Female	brain
2	chr5:178379000-178387400	ZNF genes & repeats	Ovary	ovary
3	chr5:178380000-178393600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr5:178381400-178394200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr5:178382400-178389400	Weak transcription	HSMM	muscle
6	chr5:178382600-178389800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:178383000-178389800	Weak transcription	Pancreas	Pancrea
8	chr5:178383400-178394400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:178384200-178388000	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr5:178384400-178395600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:178384600-178387200	ZNF genes & repeats	Fetal Lung	lung
12	chr5:178384600-178387600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr5:178384600-178388000	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr5:178384800-178388600	Weak transcription	Gastric	stomach
15	chr5:178385200-178387600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr5:178385200-178388000	ZNF genes & repeats	Liver	Liver
17	chr5:178385400-178387400	ZNF genes & repeats	Brain Substantia Nigra	brain
18	chr5:178385600-178388600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:178386200-178387600	ZNF genes & repeats	Aorta	Aorta
20	chr5:178386200-178388200	ZNF genes & repeats	Left Ventricle	heart
21	chr5:178386400-178387000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:178386400-178388600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:178386400-178388600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr5:178386400-178388800	Weak transcription	Fetal Kidney	kidney
25	chr5:178386400-178389600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:178386400-178389800	Weak transcription	Right Ventricle	heart
27	chr5:178386600-178387600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr5:178386600-178388800	ZNF genes & repeats	Fetal Stomach	stomach
29	chr5:178386600-178389000	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:178386800-178388800	Weak transcription	Brain Angular Gyrus	brain
31	chr5:178387000-178387400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr5:178387000-178388600	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr5:178387000-178394200	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr5:178387200-178388200	Strong transcription	Fetal Lung	lung
35	chr5:178387200-178389600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:178387400-178388800	Weak transcription	Brain Substantia Nigra	brain
37	chr5:178387400-178389200	Weak transcription	Ovary	ovary
38	chr5:178387400-178389200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:178387600-178389800	Weak transcription	Aorta	Aorta
40	chr5:178387800-178394400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:178388200-178388600	Weak transcription	Fetal Lung	lung
42	chr5:178388200-178388800	Strong transcription	Left Ventricle	heart
43	chr5:178388600-178388800	Strong transcription	Fetal Lung	lung
44	chr5:178388600-178389800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:178388600-178390600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:178388800-178389000	Weak transcription	Fetal Lung	lung
47	chr5:178388800-178389600	Weak transcription	Left Ventricle	heart
48	chr5:178388800-178389800	Strong transcription	Fetal Kidney	kidney
49	chr5:178388800-178389800	Weak transcription	Fetal Stomach	stomach
50	chr5:178388800-178393200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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