Variant report

Variant	nsv527183
Chromosome Location	chr5:178409285-178415937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:794)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:178409932-178410184	K562	blood:	n/a	n/a
2	CTCF	chr5:178413597-178413676	K562	blood:	n/a	n/a
3	CTCF	chr5:178413559-178413714	K562	blood:	n/a	n/a
4	CTCF	chr5:178413540-178413690	WERI-Rb-1	eye:	n/a	n/a
5	MAFK	chr5:178409862-178410045	HepG2	liver:	n/a	n/a
6	MYC	chr5:178409902-178410029	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:178409959-178409992	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:178410662-178410754	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:178409986-178410063	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:178410004-178410052	MCF-7	breast:	n/a	n/a
11	RAD21	chr5:178413641-178413690	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr5:178410028-178410065	HepG2	liver:	n/a	n/a
13	ZNF263	chr5:178411596-178411953	HEK293-T-REx	kidney:	n/a	n/a
14	ZNF263	chr5:178410435-178411038	HEK293-T-REx	kidney:	n/a	chr5:178410699-178410720

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178411667-178411717	NH-A	brain:	n/a
2	chr5:178411667-178411717	NH-A	brain:	n/a
3	chr5:178413560-178413610	GM19239	blood:	n/a
4	chr5:178414540-178414590	HNPCEpiC	eye:	n/a
5	chr5:178410055-178410105	GM12878	blood:	n/a
6	chr5:178414540-178414590	ProgFib	skin:	n/a
7	chr5:178411787-178411837	HEEpiC	esophagus:	n/a
8	chr5:178411667-178411717	SK-N-MC	brain:	n/a
9	chr5:178411249-178411299	HEEpiC	esophagus:	n/a
10	chr5:178414540-178414590	SK-N-SH	brain:	n/a
11	chr5:178413313-178413363	AG04450	lung:	fetal
12	chr5:178411249-178411299	HUVEC	blood vessel:	n/a
13	chr5:178411451-178411501	H1-hESC	embryonic stem cell:	embryo
14	chr5:178411124-178411174	PANC-1	pancreas:	n/a
15	chr5:178411972-178412022	AG10803	skin:	n/a
16	chr5:178410055-178410105	PANC-1	pancreas:	n/a
17	chr5:178414540-178414590	HepG2	liver:	n/a
18	chr5:178414540-178414590	AG10803	skin:	n/a
19	chr5:178414540-178414590	SAEC	small airway:	n/a
20	chr5:178410090-178410140	GM19239	blood:	n/a
21	chr5:178410090-178410140	HEK293	kidney:	embryo
22	chr5:178414540-178414590	GM06990	blood:	n/a
23	chr5:178411667-178411717	ECC-1	luminal epithelium:	n/a
24	chr5:178414179-178414229	GM12891	blood:	n/a
25	chr5:178411972-178412022	SK-N-SH_RA	brain:	n/a
26	chr5:178411787-178411837	IMR90	lung:	fetal
27	chr5:178414540-178414590	NH-A	brain:	n/a
28	chr5:178410090-178410140	HRCEpiC	kidney:	n/a
29	chr5:178410055-178410105	NHDF-neo	bronchial:	n/a
30	chr5:178414540-178414590	HCF	heart:	n/a
31	chr5:178411787-178411837	AG09319	gingival:	n/a
32	chr5:178413313-178413363	GM12892	blood:	n/a
33	chr5:178414540-178414590	AG04449	skin:	fetal
34	chr5:178411787-178411837	AG10803	skin:	n/a
35	chr5:178411451-178411501	SK-N-SH_RA	brain:	n/a
36	chr5:178410055-178410105	ProgFib	skin:	n/a
37	chr5:178411451-178411501	ECC-1	luminal epithelium:	n/a
38	chr5:178411451-178411501	RPTEC	kidney:	n/a
39	chr5:178410090-178410140	ovcar-3	ovarian:	n/a
40	chr5:178413721-178413771	HL-60	blood:	n/a
41	chr5:178413313-178413363	GM06990	blood:	n/a
42	chr5:178410055-178410105	GM19239	blood:	n/a
43	chr5:178411667-178411717	HCPEpiC	choroid plexus:	n/a
44	chr5:178414540-178414590	NHBE	bronchial:	n/a
45	chr5:178413721-178413771	BJ	skin:	n/a
46	chr5:178411451-178411501	SKMC	muscle:	n/a
47	chr5:178411667-178411717	AG09319	gingival:	n/a
48	chr5:178411972-178412022	HIPEpiC	eye:	n/a
49	chr5:178411124-178411174	Caco-2	colon:	n/a
50	chr5:178411972-178412022	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178415802..178417624-chr5:178422494..178424100,2	MCF-7	breast:

No data

Variant related genes	Relation type
GRM6	TF binding region
GRM6	CpG island
ENSG00000113262	chromatin interactions

Extended variants
information (count: 589 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10464073	chr5:178409285-178409286	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75539122	chr5:178409298-178409299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535610377	chr5:178409304-178409305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547628665	chr5:178409305-178409306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139142366	chr5:178409316-178409317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1472388	chr5:178409351-178409352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527603249	chr5:178409361-178409362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34807224	chr5:178409371-178409372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4308469	chr5:178409399-178409400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573701257	chr5:178409408-178409409	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372072235	chr5:178409411-178409412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142888985	chr5:178409445-178409446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34520058	chr5:178409465-178409466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114208848	chr5:178409505-178409506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67428898	chr5:178409509-178409510	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112745410	chr5:178409520-178409521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs70997654	chr5:178409605-178409606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79739266	chr5:178409621-178409622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554927480	chr5:178409625-178409626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377402514	chr5:178409626-178409627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114979212	chr5:178409685-178409686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376413925	chr5:178409693-178409694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201262397	chr5:178409694-178409695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199996611	chr5:178409698-178409699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199637622	chr5:178409699-178409700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146626031	chr5:178409701-178409702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74516751	chr5:178409706-178409707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199756220	chr5:178409707-178409708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17078860	chr5:178409725-178409726	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535514391	chr5:178409749-178409750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17078862	chr5:178409811-178409812	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17078865	chr5:178409827-178409828	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143251328	chr5:178409840-178409841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2071248	chr5:178409856-178409857	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs17078872	chr5:178409865-178409866	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs74583067	chr5:178409872-178409873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367589048	chr5:178409886-178409887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17078874	chr5:178409927-178409928	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150794901	chr5:178409933-178409934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369642678	chr5:178409949-178409950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17078875	chr5:178409950-178409951	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372478963	chr5:178409991-178409992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145196229	chr5:178409992-178409993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377039216	chr5:178409995-178409996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62638625	chr5:178410006-178410007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147197426	chr5:178410007-178410008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565922739	chr5:178410026-178410027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370201169	chr5:178410029-178410030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140789330	chr5:178410043-178410044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373413703	chr5:178410067-178410068	ZNF genes & repeats Weak 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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178369400-178418200	ZNF genes & repeats	Fetal Brain Female	brain
2	chr5:178401000-178414600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr5:178402000-178414400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr5:178405400-178418200	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr5:178407200-178410200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:178408000-178411200	ZNF genes & repeats	Pancreas	Pancrea
7	chr5:178408000-178413800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:178409800-178410400	ZNF genes & repeats	Ovary	ovary
9	chr5:178409800-178411000	ZNF genes & repeats	Colonic Mucosa	Colon
10	chr5:178409800-178411600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:178409800-178411600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr5:178409800-178412200	ZNF genes & repeats	Esophagus	oesophagus
13	chr5:178410000-178412200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:178410000-178414600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:178411000-178412200	ZNF genes & repeats	Placenta	Placenta
16	chr5:178411600-178411800	ZNF genes & repeats	Spleen	Spleen
17	chr5:178411800-178412000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr5:178413000-178413800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr5:178413000-178413800	ZNF genes & repeats	Gastric	stomach
20	chr5:178413000-178417400	ZNF genes & repeats	Fetal Stomach	stomach
21	chr5:178413200-178417200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr5:178413600-178413800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr5:178413800-178414400	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr5:178415800-178417800	ZNF genes & repeats	Ovary	ovary

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