Variant report

Variant	esv3470264
Chromosome Location	chr5:178348285-178353276
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	E2F4	chr5:178352624-178352824	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:178352930-178352950	A549	lung:	n/a	n/a
3	POLR2A	chr5:178352962-178352963	A549	lung:	n/a	n/a
4	REST	chr5:178351069-178351188	PANC-1	pancreas:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF454-2	chr5:178349065-178349717	NONHSAT105562

Variant related genes	Relation type
PIGFP1	TF binding region

Extended variants
information (count: 201 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:201 , 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	rs181269806	chr5:178348319-178348320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115903953	chr5:178348327-178348328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183560562	chr5:178348339-178348340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368389840	chr5:178348363-178348364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528854981	chr5:178348375-178348376	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530805313	chr5:178348418-178348419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549015725	chr5:178348448-178348449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567378128	chr5:178348473-178348474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548870286	chr5:178348492-178348493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144274748	chr5:178348517-178348518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546446267	chr5:178348525-178348526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10043786	chr5:178348554-178348555	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538482699	chr5:178348562-178348563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188295229	chr5:178348566-178348567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2132669	chr5:178348605-178348606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148752869	chr5:178348658-178348659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557202974	chr5:178348683-178348684	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569212555	chr5:178348689-178348690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552988557	chr5:178348714-178348715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554608159	chr5:178348756-178348757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572933623	chr5:178348773-178348774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181850515	chr5:178348811-178348812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141409160	chr5:178348840-178348841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551158157	chr5:178348856-178348857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150836802	chr5:178348859-178348860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78804526	chr5:178348902-178348903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548688801	chr5:178348914-178348915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2411990	chr5:178348920-178348921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376232925	chr5:178348927-178348928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61038689	chr5:178348974-178348975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187199351	chr5:178348981-178348982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145620654	chr5:178349005-178349006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147749482	chr5:178349027-178349028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528538752	chr5:178349039-178349040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547047849	chr5:178349075-178349076	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs140891626	chr5:178349076-178349077	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs532322502	chr5:178349110-178349111	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs550547506	chr5:178349128-178349129	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs60943644	chr5:178349136-178349137	ZNF genes & repeats Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs375562139	chr5:178349163-178349164	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs536557826	chr5:178349173-178349174	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs144940374	chr5:178349192-178349193	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs566454685	chr5:178349199-178349200	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs533587398	chr5:178349237-178349238	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs17663795	chr5:178349297-178349298	ZNF genes & repeats Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376543714	chr5:178349315-178349316	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs576912326	chr5:178349349-178349350	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs539178234	chr5:178349371-178349372	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs557144488	chr5:178349380-178349381	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs2228388	chr5:178349391-178349392	ZNF genes & repeats Weak transcription	lncRNA	n/a	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178335600-178349000	ZNF genes & repeats	Liver	Liver
2	chr5:178335800-178367000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr5:178341600-178367000	ZNF genes & repeats	Fetal Brain Female	brain
4	chr5:178343000-178367200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr5:178345600-178349400	Weak transcription	Primary T cells from cord blood	blood
6	chr5:178346400-178351000	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr5:178346600-178349800	ZNF genes & repeats	Colon Smooth Muscle	Colon
8	chr5:178347800-178348800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr5:178347800-178348800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
10	chr5:178347800-178350400	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr5:178347800-178350400	ZNF genes & repeats	Brain Substantia Nigra	brain
12	chr5:178347800-178352400	ZNF genes & repeats	Fetal Lung	lung
13	chr5:178347800-178366800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr5:178347800-178367400	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr5:178348000-178348600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:178348000-178348600	ZNF genes & repeats	Esophagus	oesophagus
17	chr5:178348000-178348600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
18	chr5:178348000-178348800	ZNF genes & repeats	Fetal Stomach	stomach
19	chr5:178348000-178349000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
20	chr5:178348000-178349000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
21	chr5:178348000-178349600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
22	chr5:178348000-178349800	ZNF genes & repeats	Aorta	Aorta
23	chr5:178348000-178349800	ZNF genes & repeats	Brain Angular Gyrus	brain
24	chr5:178348000-178349800	ZNF genes & repeats	Ovary	ovary
25	chr5:178348000-178349800	ZNF genes & repeats	Pancreas	Pancrea
26	chr5:178348000-178350400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr5:178348000-178359800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:178348000-178360200	ZNF genes & repeats	Left Ventricle	heart
29	chr5:178348200-178348600	ZNF genes & repeats	Right Ventricle	heart
30	chr5:178348200-178348800	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr5:178348200-178348800	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr5:178348200-178348800	ZNF genes & repeats	Gastric	stomach
33	chr5:178348200-178348800	ZNF genes & repeats	Spleen	Spleen
34	chr5:178348200-178349000	ZNF genes & repeats	Psoas Muscle	Psoas
35	chr5:178348200-178349600	ZNF genes & repeats	Placenta	Placenta
36	chr5:178348200-178349800	ZNF genes & repeats	Fetal Brain Male	brain
37	chr5:178348200-178350000	Weak transcription	Fetal Kidney	kidney
38	chr5:178348400-178348800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
39	chr5:178348600-178352400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:178348800-178350200	Weak transcription	Fetal Stomach	stomach
41	chr5:178348800-178352200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:178348800-178357800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:178349400-178349600	ZNF genes & repeats	Psoas Muscle	Psoas
44	chr5:178349400-178350600	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr5:178349800-178352200	Weak transcription	Brain Angular Gyrus	brain
46	chr5:178350200-178350400	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr5:178350200-178350600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr5:178350200-178350800	ZNF genes & repeats	Fetal Stomach	stomach
49	chr5:178351400-178367400	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr5:178351600-178352600	ZNF genes & repeats	Pancreas	Pancrea

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