Variant report

Variant	nsv516324
Chromosome Location	chr5:178410538-178415937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:673)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:178413597-178413676	K562	blood:	n/a	n/a
2	CTCF	chr5:178413559-178413714	K562	blood:	n/a	n/a
3	CTCF	chr5:178413540-178413690	WERI-Rb-1	eye:	n/a	n/a
4	POLR2A	chr5:178410662-178410754	GM12878	blood:	n/a	n/a
5	RAD21	chr5:178413641-178413690	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF263	chr5:178410435-178411038	HEK293-T-REx	kidney:	n/a	chr5:178410699-178410720
7	ZNF263	chr5:178411596-178411953	HEK293-T-REx	kidney:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178411787-178411837	Jurkat	blood:	n/a
2	chr5:178414540-178414590	SAEC	small airway:	n/a
3	chr5:178411787-178411837	Jurkat	blood:	n/a
4	chr5:178414540-178414590	SAEC	small airway:	n/a
5	chr5:178411667-178411717	NB4	blood:	n/a
6	chr5:178414540-178414590	HL-60	blood:	n/a
7	chr5:178411972-178412022	HRE	kidney:	n/a
8	chr5:178413721-178413771	IMR90	lung:	fetal
9	chr5:178411451-178411501	HL-60	blood:	n/a
10	chr5:178413560-178413610	SK-N-SH	brain:	n/a
11	chr5:178411249-178411299	ECC-1	luminal epithelium:	n/a
12	chr5:178411787-178411837	HMEC	breast:	n/a
13	chr5:178413560-178413610	AG09319	gingival:	n/a
14	chr5:178413721-178413771	HRPEpiC	eye:	n/a
15	chr5:178414179-178414229	SAEC	small airway:	n/a
16	chr5:178411787-178411837	CMK	blood:	n/a
17	chr5:178414179-178414229	BE2_C	brain:	n/a
18	chr5:178411787-178411837	U87	brain:	n/a
19	chr5:178413560-178413610	PrEC	prostate:	n/a
20	chr5:178411787-178411837	GM12892	blood:	n/a
21	chr5:178411124-178411174	GM06990	blood:	n/a
22	chr5:178411787-178411837	HCT-116	colon:	n/a
23	chr5:178411249-178411299	K562	blood:	n/a
24	chr5:178413721-178413771	H1-hESC	embryonic stem cell:	embryo
25	chr5:178413721-178413771	AG09319	gingival:	n/a
26	chr5:178414179-178414229	HEK293	kidney:	embryo
27	chr5:178411787-178411837	HRE	kidney:	n/a
28	chr5:178411451-178411501	GM12892	blood:	n/a
29	chr5:178411249-178411299	AoSMC	blood vessel:	n/a
30	chr5:178411667-178411717	GM12892	blood:	n/a
31	chr5:178411787-178411837	Hepatocyte	liver:	n/a
32	chr5:178411451-178411501	HPAEpiC	pulmonary alveolar:	n/a
33	chr5:178411249-178411299	HUVEC	blood vessel:	n/a
34	chr5:178411451-178411501	MCF-7	breast:	n/a
35	chr5:178411667-178411717	BE2_C	brain:	n/a
36	chr5:178411124-178411174	HCF	heart:	n/a
37	chr5:178411124-178411174	HCT-116	colon:	n/a
38	chr5:178414540-178414590	GM12891	blood:	n/a
39	chr5:178411787-178411837	SK-N-SH	brain:	n/a
40	chr5:178411249-178411299	Hepatocyte	liver:	n/a
41	chr5:178414540-178414590	BE2_C	brain:	n/a
42	chr5:178414540-178414590	AG04449	skin:	fetal
43	chr5:178413560-178413610	HRE	kidney:	n/a
44	chr5:178411972-178412022	HCPEpiC	choroid plexus:	n/a
45	chr5:178411124-178411174	HNPCEpiC	eye:	n/a
46	chr5:178411249-178411299	HIPEpiC	eye:	n/a
47	chr5:178411124-178411174	AG10803	skin:	n/a
48	chr5:178411667-178411717	GM12878	blood:	n/a
49	chr5:178411667-178411717	HRE	kidney:	n/a
50	chr5:178413313-178413363	NH-A	brain:	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: 498 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1475950	chr5:178410538-178410539	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79513074	chr5:178410562-178410563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs117333138	chr5:178410582-178410583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs117721397	chr5:178410585-178410586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs117900844	chr5:178410589-178410590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs148573254	chr5:178410590-178410591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115747236	chr5:178410607-178410608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs559849827	chr5:178410608-178410609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115533502	chr5:178410615-178410616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs116423060	chr5:178410617-178410618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs563385302	chr5:178410624-178410625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112147360	chr5:178410632-178410633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs76759810	chr5:178410640-178410641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567233535	chr5:178410641-178410642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79769143	chr5:178410646-178410647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs1475949	chr5:178410668-178410669	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570969841	chr5:178410730-178410731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs903988	chr5:178410738-178410739	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183575624	chr5:178410743-178410744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75435951	chr5:178410755-178410756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537727070	chr5:178410761-178410762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2856348	chr5:178410839-178410840	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557607502	chr5:178410848-178410849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs151099928	chr5:178410853-178410854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142518912	chr5:178410858-178410859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553403720	chr5:178410872-178410873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs578140171	chr5:178410888-178410889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74433299	chr5:178410889-178410890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75261877	chr5:178410914-178410915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575378845	chr5:178410915-178410916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs77145995	chr5:178410921-178410922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs58175257	chr5:178410993-178410994	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79491709	chr5:178411007-178411008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546141960	chr5:178411013-178411014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564585534	chr5:178411016-178411017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs61565874	chr5:178411019-178411020	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs28427314	chr5:178411021-178411022	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568955868	chr5:178411052-178411053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs537213231	chr5:178411066-178411067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188028140	chr5:178411080-178411081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540601661	chr5:178411087-178411088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs114379370	chr5:178411100-178411101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76723321	chr5:178411110-178411111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs147580252	chr5:178411125-178411126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142958524	chr5:178411178-178411179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs116078255	chr5:178411181-178411182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185497448	chr5:178411182-178411183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs190429776	chr5:178411183-178411184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551387714	chr5:178411197-178411198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs369043007	chr5:178411221-178411222	ZNF genes & repeats	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:22 , 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	chr5:178408000-178411200	ZNF genes & repeats	Pancreas	Pancrea
6	chr5:178408000-178413800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:178409800-178411000	ZNF genes & repeats	Colonic Mucosa	Colon
8	chr5:178409800-178411600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:178409800-178411600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
10	chr5:178409800-178412200	ZNF genes & repeats	Esophagus	oesophagus
11	chr5:178410000-178412200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:178410000-178414600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:178411000-178412200	ZNF genes & repeats	Placenta	Placenta
14	chr5:178411600-178411800	ZNF genes & repeats	Spleen	Spleen
15	chr5:178411800-178412000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr5:178413000-178413800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr5:178413000-178413800	ZNF genes & repeats	Gastric	stomach
18	chr5:178413000-178417400	ZNF genes & repeats	Fetal Stomach	stomach
19	chr5:178413200-178417200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr5:178413600-178413800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr5:178413800-178414400	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr5:178415800-178417800	ZNF genes & repeats	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links