Variant report

Variant	nsv597826
Chromosome Location	chr5:37250700-37256578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr5:37251808-37251846	GM12878	blood:	n/a	n/a
2	FOXA1	chr5:37254773-37255113	T-47D	breast:	n/a	n/a
3	FOXA1	chr5:37256145-37256412	HepG2	liver:	n/a	n/a
4	GATA3	chr5:37254674-37255174	T-47D	breast:	n/a	chr5:37254978-37254986
5	GATA3	chr5:37254785-37255197	MCF-7	breast:	n/a	chr5:37254978-37254986
6	GATA3	chr5:37254641-37255333	MCF-7	breast:	n/a	chr5:37254978-37254986
7	GATA3	chr5:37254677-37255160	T-47D	breast:	n/a	chr5:37254978-37254986
8	GATA3	chr5:37254748-37255206	MCF-7	breast:	n/a	chr5:37254978-37254986
9	JUN	chr5:37256337-37256347	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUN	chr5:37251509-37251599	K562	blood:	n/a	n/a
11	MAFK	chr5:37256350-37256439	Hela-S3	cervix:	n/a	n/a
12	MAX	chr5:37252533-37252549	NB4	blood:	n/a	chr5:37252539-37252549
13	MXI1	chr5:37250789-37250819	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:37252466-37252593	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr5:37251493-37251693	MCF10A-Er-Src	breast:	n/a	n/a
16	TBP	chr5:37251775-37251913	K562	blood:	n/a	n/a
17	TBP	chr5:37251727-37251892	GM12878	blood:	n/a	n/a
18	TCF7L2	chr5:37254907-37255111	MCF-7	breast:	n/a	n/a
19	USF1	chr5:37251767-37252175	SK-N-SH	brain:	n/a	chr5:37251960-37251971
20	USF1	chr5:37251705-37252146	ECC-1	luminal epithelium:	n/a	chr5:37251960-37251971
21	USF1	chr5:37251787-37252101	A549	lung:	n/a	chr5:37251960-37251971
22	USF1	chr5:37251856-37252062	A549	lung:	n/a	chr5:37251960-37251971
23	USF1	chr5:37251791-37252022	A549	lung:	n/a	chr5:37251960-37251971
24	USF1	chr5:37251668-37252242	HCT-116	colon:	n/a	chr5:37251960-37251971
25	USF1	chr5:37251740-37252028	H1-hESC	embryonic stem cell:	n/a	chr5:37251960-37251971
26	USF1	chr5:37251803-37252077	K562	blood:	n/a	chr5:37251960-37251971
27	USF1	chr5:37251868-37252062	HepG2	liver:	n/a	chr5:37251960-37251971
28	USF2	chr5:37251778-37252138	Hela-S3	cervix:	n/a	chr5:37251960-37251971
29	ZNF143	chr5:37251797-37252003	GM12878	blood:	n/a	n/a
30	ZNF143	chr5:37251829-37252112	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37251010-37251060	AG04450	lung:	fetal
2	chr5:37251010-37251060	HCPEpiC	choroid plexus:	n/a
3	chr5:37251010-37251060	GM12878	blood:	n/a
4	chr5:37251010-37251060	Hela-S3	cervix:	n/a
5	chr5:37251010-37251060	RPTEC	kidney:	n/a
6	chr5:37251010-37251060	HAEpiC	amniotic membrane:	n/a
7	chr5:37251010-37251060	NH-A	brain:	n/a
8	chr5:37251010-37251060	AG10803	skin:	n/a
9	chr5:37251010-37251060	HUVEC	blood vessel:	n/a
10	chr5:37251010-37251060	Hepatocyte	liver:	n/a
11	chr5:37251010-37251060	Jurkat	blood:	n/a
12	chr5:37251010-37251060	HIPEpiC	eye:	n/a
13	chr5:37251010-37251060	AG09319	gingival:	n/a
14	chr5:37251010-37251060	LNCaP	prostate:	n/a
15	chr5:37251010-37251060	HPAEpiC	pulmonary alveolar:	n/a
16	chr5:37251010-37251060	SK-N-SH_RA	brain:	n/a
17	chr5:37251010-37251060	T-47D	breast:	n/a
18	chr5:37251010-37251060	K562	blood:	n/a
19	chr5:37251010-37251060	HEK293	kidney:	embryo
20	chr5:37251010-37251060	HRPEpiC	eye:	n/a
21	chr5:37251010-37251060	AG09309	skin:	n/a
22	chr5:37251010-37251060	NB4	blood:	n/a
23	chr5:37251010-37251060	GM06990	blood:	n/a
24	chr5:37251010-37251060	HRCEpiC	kidney:	n/a
25	chr5:37251010-37251060	HCM	heart:	n/a
26	chr5:37251010-37251060	IMR90	lung:	fetal
27	chr5:37251010-37251060	U87	brain:	n/a
28	chr5:37251010-37251060	GM19239	blood:	n/a
29	chr5:37251010-37251060	ECC-1	luminal epithelium:	n/a
30	chr5:37251010-37251060	SK-N-SH	brain:	n/a
31	chr5:37251010-37251060	CMK	blood:	n/a
32	chr5:37251010-37251060	HRE	kidney:	n/a
33	chr5:37251010-37251060	HepG2	liver:	n/a
34	chr5:37251010-37251060	MCF-7	breast:	n/a
35	chr5:37251010-37251060	HNPCEpiC	eye:	n/a
36	chr5:37251010-37251060	BE2_C	brain:	n/a
37	chr5:37251010-37251060	HMEC	breast:	n/a
38	chr5:37251010-37251060	SK-N-MC	brain:	n/a
39	chr5:37251010-37251060	NHBE	bronchial:	n/a
40	chr5:37251010-37251060	ovcar-3	ovarian:	n/a
41	chr5:37251010-37251060	MCF10A-Er-Src	breast:	n/a
42	chr5:37251010-37251060	HCT-116	colon:	n/a
43	chr5:37251010-37251060	NHDF-neo	bronchial:	n/a
44	chr5:37251010-37251060	HL-60	blood:	n/a
45	chr5:37251010-37251060	AG04449	skin:	fetal
46	chr5:37251010-37251060	PFSK-1	brain:	n/a
47	chr5:37251010-37251060	Caco-2	colon:	n/a
48	chr5:37251010-37251060	PrEC	prostate:	n/a
49	chr5:37251010-37251060	SAEC	small airway:	n/a
50	chr5:37251010-37251060	GM12891	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:37248340..37251803-chr5:37254807..37257992,3	MCF-7	breast:
2	chr5:37248573..37251161-chr5:37251715..37254222,2	MCF-7	breast:
3	chr5:37244319..37247437-chr5:37248031..37251100,3	MCF-7	breast:
4	chr5:37248443..37250196-chr5:37254645..37256658,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR70-5	chr5:37254685-37254730	NONHSAT101057

No data

Variant related genes	Relation type
C5orf42	TF binding region
RN7SL37P	TF binding region
C5orf42	CpG island
RN7SL37P	CpG island
ENSG00000197603	chromatin interactions
ENSG00000242493	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:214 , 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	rs10071451	chr5:37250700-37250701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561750384	chr5:37250728-37250729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75084724	chr5:37250749-37250750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571061820	chr5:37250811-37250812	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs185762024	chr5:37250815-37250816	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs559257371	chr5:37250819-37250820	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs369965187	chr5:37250820-37250821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533047184	chr5:37250832-37250833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551408039	chr5:37250845-37250846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371849875	chr5:37250872-37250873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569666890	chr5:37250899-37250900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552710687	chr5:37250907-37250908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569716073	chr5:37250950-37250951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537157937	chr5:37250996-37250997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549421416	chr5:37251051-37251052	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs11461602	chr5:37251153-37251154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567783726	chr5:37251206-37251207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147367668	chr5:37251229-37251230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553585779	chr5:37251261-37251262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578262249	chr5:37251269-37251270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539294679	chr5:37251286-37251287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368388115	chr5:37251300-37251301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576074963	chr5:37251317-37251318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543176142	chr5:37251320-37251321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558649211	chr5:37251325-37251326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561850954	chr5:37251362-37251363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190487726	chr5:37251370-37251371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541261031	chr5:37251385-37251386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559119076	chr5:37251409-37251410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114873617	chr5:37251419-37251420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551219844	chr5:37251443-37251444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572184651	chr5:37251450-37251451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563356559	chr5:37251548-37251549	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs530904088	chr5:37251575-37251576	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs181817743	chr5:37251651-37251652	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540903099	chr5:37251741-37251742	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs28429963	chr5:37251893-37251894	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs77485819	chr5:37251996-37251997	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs547221966	chr5:37252013-37252014	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138015150	chr5:37252022-37252023	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs539358745	chr5:37252063-37252064	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557660778	chr5:37252104-37252105	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543744950	chr5:37252121-37252122	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143390210	chr5:37252147-37252148	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs114683715	chr5:37252197-37252198	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563236096	chr5:37252201-37252202	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555059742	chr5:37252271-37252272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573727036	chr5:37252316-37252317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201179859	chr5:37252336-37252337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552756910	chr5:37252363-37252364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Medulloblastoma	21979893	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
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37250000-37251600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:37250200-37250800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:37250200-37250800	Enhancers	HepG2	liver
4	chr5:37250200-37251000	Enhancers	HSMMtube	muscle
5	chr5:37250200-37251800	Weak transcription	Fetal Intestine Small	intestine
6	chr5:37250200-37253400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:37250200-37257200	Weak transcription	Psoas Muscle	Psoas
8	chr5:37250200-37260000	Weak transcription	Brain Anterior Caudate	brain
9	chr5:37250400-37251000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:37250400-37251800	Weak transcription	Left Ventricle	heart
11	chr5:37250400-37252000	Weak transcription	Fetal Intestine Large	intestine
12	chr5:37250400-37252000	Enhancers	Hela-S3	cervix
13	chr5:37250400-37256600	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:37250400-37257400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:37250400-37264200	Weak transcription	Brain Substantia Nigra	brain
16	chr5:37250800-37251800	Weak transcription	HepG2	liver
17	chr5:37251000-37251800	Weak transcription	HSMMtube	muscle
18	chr5:37251600-37251800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:37251800-37252000	Enhancers	Fetal Intestine Small	intestine
20	chr5:37251800-37252000	Enhancers	HepG2	liver
21	chr5:37251800-37252000	Enhancers	HSMMtube	muscle
22	chr5:37252000-37253600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:37252000-37254200	Weak transcription	Hela-S3	cervix
24	chr5:37252200-37252400	Enhancers	Fetal Intestine Large	intestine
25	chr5:37254200-37254800	ZNF genes & repeats	Hela-S3	cervix
26	chr5:37254200-37255000	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr5:37254800-37263400	Weak transcription	Hela-S3	cervix
28	chr5:37255000-37260000	Weak transcription	Left Ventricle	heart
29	chr5:37255000-37261800	Weak transcription	Fetal Intestine Small	intestine
30	chr5:37256000-37256400	Enhancers	Cortex derived primary cultured neurospheres	brain

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