Variant report

Variant	nsv823354
Chromosome Location	chr5:178345876-178351699
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	POLR2A	chr5:178346491-178346728	ProgFib	skin:	n/a	n/a
2	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: 235 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs543636382	chr5:178345926-178345927	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190304671	chr5:178345953-178345954	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148431280	chr5:178345956-178345957	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569601199	chr5:178345996-178345997	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540585243	chr5:178346013-178346014	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558940414	chr5:178346041-178346042	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113888601	chr5:178346057-178346058	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182154438	chr5:178346073-178346074	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72816634	chr5:178346116-178346117	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186891084	chr5:178346161-178346162	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72538517	chr5:178346175-178346176	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5873641	chr5:178346176-178346177	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs33959990	chr5:178346177-178346178	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531804925	chr5:178346179-178346180	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1566106	chr5:178346215-178346216	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs192465647	chr5:178346225-178346226	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536164001	chr5:178346227-178346228	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547776294	chr5:178346244-178346245	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534465199	chr5:178346259-178346260	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185839942	chr5:178346316-178346317	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145552789	chr5:178346399-178346400	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114090146	chr5:178346447-178346448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111877315	chr5:178346500-178346501	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557841120	chr5:178346510-178346511	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs548075316	chr5:178346548-178346549	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs528907911	chr5:178346612-178346613	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs147707728	chr5:178346622-178346623	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs536849098	chr5:178346734-178346735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6600996	chr5:178346784-178346785	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142547325	chr5:178346805-178346806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146948425	chr5:178346834-178346835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7732997	chr5:178346837-178346838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188372299	chr5:178346859-178346860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545031885	chr5:178346873-178346874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7718717	chr5:178346921-178346922	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs193021145	chr5:178346958-178346959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71589466	chr5:178346969-178346970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60022409	chr5:178346980-178346981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34629379	chr5:178346981-178346982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528836887	chr5:178346984-178346985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140686270	chr5:178347004-178347005	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150097520	chr5:178347018-178347019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529580954	chr5:178347028-178347029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372053473	chr5:178347030-178347031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548084968	chr5:178347033-178347034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112238766	chr5:178347111-178347112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4406122	chr5:178347117-178347118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539441485	chr5:178347126-178347127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57426447	chr5:178347136-178347137	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4533875	chr5:178347143-178347144	ZNF genes & repeats Weak transcription	n/a	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:80 , 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	chr5:178341600-178347000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr5:178341600-178347200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
5	chr5:178341600-178367000	ZNF genes & repeats	Fetal Brain Female	brain
6	chr5:178342000-178348200	Weak transcription	Right Ventricle	heart
7	chr5:178342800-178346000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:178343000-178346000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr5:178343000-178367200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr5:178343800-178348000	Weak transcription	Brain Angular Gyrus	brain
11	chr5:178344800-178346000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr5:178344800-178346400	Strong transcription	Brain Substantia Nigra	brain
13	chr5:178345000-178346600	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:178345400-178346000	ZNF genes & repeats	Left Ventricle	heart
15	chr5:178345400-178346200	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr5:178345400-178347200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:178345600-178346600	Weak transcription	Aorta	Aorta
18	chr5:178345600-178347600	Weak transcription	Fetal Kidney	kidney
19	chr5:178345600-178347800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:178345600-178348000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:178345600-178349400	Weak transcription	Primary T cells from cord blood	blood
22	chr5:178345800-178346600	Weak transcription	Ovary	ovary
23	chr5:178346000-178348000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:178346400-178346800	Weak transcription	Brain Substantia Nigra	brain
25	chr5:178346400-178347000	ZNF genes & repeats	Left Ventricle	heart
26	chr5:178346400-178351000	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr5:178346600-178347000	ZNF genes & repeats	Aorta	Aorta
28	chr5:178346600-178347200	ZNF genes & repeats	Ovary	ovary
29	chr5:178346600-178349800	ZNF genes & repeats	Colon Smooth Muscle	Colon
30	chr5:178346800-178347000	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr5:178347000-178347800	Weak transcription	Brain Substantia Nigra	brain
32	chr5:178347000-178348000	Weak transcription	Aorta	Aorta
33	chr5:178347000-178348000	Weak transcription	Left Ventricle	heart
34	chr5:178347200-178348000	Weak transcription	Ovary	ovary
35	chr5:178347200-178348000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:178347600-178348200	ZNF genes & repeats	Fetal Kidney	kidney
37	chr5:178347800-178348800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr5:178347800-178348800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
39	chr5:178347800-178350400	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr5:178347800-178350400	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr5:178347800-178352400	ZNF genes & repeats	Fetal Lung	lung
42	chr5:178347800-178366800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
43	chr5:178347800-178367400	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr5:178348000-178348600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:178348000-178348600	ZNF genes & repeats	Esophagus	oesophagus
46	chr5:178348000-178348600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
47	chr5:178348000-178348800	ZNF genes & repeats	Fetal Stomach	stomach
48	chr5:178348000-178349000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
49	chr5:178348000-178349000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
50	chr5:178348000-178349600	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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