Variant report

Variant	nsv526334
Chromosome Location	chr5:2178140-2186956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:549)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr5:2183157-2183399	K562	blood:	n/a	chr5:2183276-2183289
2	MAFK	chr5:2184087-2184396	HepG2	liver:	n/a	chr5:2184245-2184256 chr5:2184240-2184256 chr5:2184244-2184255 chr5:2184240-2184255
3	MAFK	chr5:2184165-2184389	HepG2	liver:	n/a	chr5:2184245-2184256 chr5:2184240-2184256 chr5:2184244-2184255 chr5:2184240-2184255
4	POLR2A	chr5:2181458-2181483	Gliobla	brain:	n/a	n/a
5	POLR2A	chr5:2185032-2185260	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:2185118-2185308	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:2178135-2178290	MCF-7	breast:	n/a	n/a
8	RAD21	chr5:2178834-2179147	H1-hESC	embryonic stem cell:	n/a	n/a
9	SRF	chr5:2180297-2180435	GM12878	blood:	n/a	n/a
10	USF1	chr5:2183179-2183419	H1-hESC	embryonic stem cell:	n/a	n/a
11	USF1	chr5:2183183-2183384	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZBTB33	chr5:2185124-2185235	HepG2	liver:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:2186371-2186421	HCPEpiC	choroid plexus:	n/a
2	chr5:2180824-2180874	BE2_C	brain:	n/a
3	chr5:2180418-2180468	HMEC	breast:	n/a
4	chr5:2180824-2180874	SK-N-SH_RA	brain:	n/a
5	chr5:2180824-2180874	HIPEpiC	eye:	n/a
6	chr5:2186371-2186421	SK-N-SH	brain:	n/a
7	chr5:2180418-2180468	GM12878	blood:	n/a
8	chr5:2179563-2179613	HRE	kidney:	n/a
9	chr5:2180505-2180555	BJ	skin:	n/a
10	chr5:2180252-2180302	PANC-1	pancreas:	n/a
11	chr5:2180505-2180555	Hela-S3	cervix:	n/a
12	chr5:2186371-2186421	AG04450	lung:	fetal
13	chr5:2186856-2186906	HRCEpiC	kidney:	n/a
14	chr5:2186659-2186709	HAEpiC	amniotic membrane:	n/a
15	chr5:2180824-2180874	HUVEC	blood vessel:	n/a
16	chr5:2180252-2180302	GM12878	blood:	n/a
17	chr5:2180824-2180874	U87	brain:	n/a
18	chr5:2186856-2186906	BJ	skin:	n/a
19	chr5:2179563-2179613	Caco-2	colon:	n/a
20	chr5:2180252-2180302	IMR90	lung:	fetal
21	chr5:2180824-2180874	NH-A	brain:	n/a
22	chr5:2180252-2180302	MCF-7	breast:	n/a
23	chr5:2180505-2180555	T-47D	breast:	n/a
24	chr5:2184062-2184112	LNCaP	prostate:	n/a
25	chr5:2180252-2180302	CMK	blood:	n/a
26	chr5:2180505-2180555	AG04450	lung:	fetal
27	chr5:2180252-2180302	HCF	heart:	n/a
28	chr5:2186659-2186709	BJ	skin:	n/a
29	chr5:2186371-2186421	LNCaP	prostate:	n/a
30	chr5:2186371-2186421	SKMC	muscle:	n/a
31	chr5:2186371-2186421	HCF	heart:	n/a
32	chr5:2179563-2179613	HepG2	liver:	n/a
33	chr5:2186659-2186709	HUVEC	blood vessel:	n/a
34	chr5:2186856-2186906	HAEpiC	amniotic membrane:	n/a
35	chr5:2180505-2180555	U87	brain:	n/a
36	chr5:2180824-2180874	PANC-1	pancreas:	n/a
37	chr5:2180252-2180302	HCM	heart:	n/a
38	chr5:2180252-2180302	SK-N-MC	brain:	n/a
39	chr5:2186659-2186709	MCF10A-Er-Src	breast:	n/a
40	chr5:2184062-2184112	PrEC	prostate:	n/a
41	chr5:2184062-2184112	BE2_C	brain:	n/a
42	chr5:2180505-2180555	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:2179563-2179613	H1-hESC	embryonic stem cell:	embryo
44	chr5:2184062-2184112	NB4	blood:	n/a
45	chr5:2186371-2186421	SK-N-SH_RA	brain:	n/a
46	chr5:2180418-2180468	HEK293	kidney:	embryo
47	chr5:2186856-2186906	Caco-2	colon:	n/a
48	chr5:2180418-2180468	SK-N-MC	brain:	n/a
49	chr5:2184062-2184112	ProgFib	skin:	n/a
50	chr5:2186371-2186421	GM19239	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:2177408..2179073-chr5:2187197..2190154,2	MCF-7	breast:
2	chr5:2176104..2179198-chr5:2180274..2184546,3	K562	blood:
3	chr5:2176104..2179198-chr5:2180274..2184546,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201026	TF binding region
ENSG00000201026	CpG island

Extended variants
information (count: 408 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10073915	chr5:2178140-2178141	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577596619	chr5:2178161-2178162	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181696993	chr5:2178209-2178210	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370378294	chr5:2178210-2178211	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560159702	chr5:2178247-2178248	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527392971	chr5:2178272-2178273	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574746625	chr5:2178326-2178327	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561113920	chr5:2178356-2178357	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531620937	chr5:2178375-2178376	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112123302	chr5:2178378-2178379	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10053297	chr5:2178406-2178407	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10060168	chr5:2178423-2178424	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558516539	chr5:2178434-2178435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551492447	chr5:2178435-2178436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs59922927	chr5:2178437-2178438	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74478159	chr5:2178444-2178445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs115030905	chr5:2178472-2178473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145013309	chr5:2178478-2178479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs538129754	chr5:2178481-2178482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs149099841	chr5:2178502-2178503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543511387	chr5:2178518-2178519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs74581458	chr5:2178597-2178598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs578200092	chr5:2178598-2178599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143190750	chr5:2178601-2178602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs191334097	chr5:2178602-2178603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs57732836	chr5:2178611-2178612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs150223040	chr5:2178613-2178614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs11277676	chr5:2178615-2178616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374493948	chr5:2178625-2178626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542777975	chr5:2178659-2178660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs181113899	chr5:2178677-2178678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs367753414	chr5:2178678-2178679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs543266252	chr5:2178694-2178695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565144113	chr5:2178700-2178701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532305289	chr5:2178717-2178718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371513448	chr5:2178744-2178745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566565591	chr5:2178770-2178771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148297869	chr5:2178772-2178773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376491622	chr5:2178779-2178780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549095535	chr5:2178780-2178781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78713627	chr5:2178853-2178854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538402891	chr5:2178859-2178860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556490172	chr5:2178860-2178861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs371855856	chr5:2178866-2178867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs571863964	chr5:2178870-2178871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs185960058	chr5:2178885-2178886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141574032	chr5:2178891-2178892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147058111	chr5:2178950-2178951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs542665485	chr5:2178953-2178954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554670138	chr5:2178982-2178983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21364760	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2175800-2178400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:2177400-2179000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:2179400-2179600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:2179600-2182600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:2179800-2180000	Enhancers	Fetal Kidney	kidney
6	chr5:2180000-2180200	Enhancers	Fetal Lung	lung
7	chr5:2180000-2180200	Bivalent Enhancer	Fetal Stomach	stomach
8	chr5:2180000-2184000	Weak transcription	Fetal Kidney	kidney
9	chr5:2180200-2180800	Weak transcription	Fetal Lung	lung
10	chr5:2180600-2182600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr5:2180800-2181800	Enhancers	Fetal Lung	lung
12	chr5:2181000-2181600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr5:2181000-2181600	Enhancers	Fetal Muscle Leg	muscle
14	chr5:2181000-2181600	Bivalent Enhancer	Fetal Stomach	stomach
15	chr5:2181200-2181600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:2181200-2182200	Enhancers	Spleen	Spleen
17	chr5:2181800-2183200	Weak transcription	Fetal Lung	lung
18	chr5:2182200-2183400	Weak transcription	Spleen	Spleen
19	chr5:2182600-2184400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:2183200-2183800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:2183200-2185000	Enhancers	Fetal Lung	lung
22	chr5:2183200-2185800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr5:2183400-2184200	Enhancers	Spleen	Spleen
24	chr5:2183400-2185200	Enhancers	Fetal Stomach	stomach
25	chr5:2183600-2184000	Enhancers	Colon Smooth Muscle	Colon
26	chr5:2183600-2184200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:2183600-2185200	Enhancers	Ovary	ovary
28	chr5:2183800-2184200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr5:2183800-2184600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:2184000-2184400	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr5:2184000-2185600	Enhancers	Fetal Kidney	kidney
32	chr5:2184200-2185000	Weak transcription	Spleen	Spleen
33	chr5:2185000-2185600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
34	chr5:2185000-2186400	Enhancers	Spleen	Spleen
35	chr5:2185600-2188200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:2186400-2192000	Weak transcription	Spleen	Spleen

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