Variant report

Variant	nsv818349
Chromosome Location	chr5:41586405-41596269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:183)
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	CTCF	chr5:41593533-41593581	GM10266	blood:	n/a	n/a
2	CTCF	chr5:41589900-41590050	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr5:41593585-41593603	GM10248	blood:	n/a	n/a
4	GATA3	chr5:41588673-41589037	SH-SY5Y	brain:	n/a	chr5:41588853-41588864
5	POLR2A	chr5:41587957-41588002	A549	lung:	n/a	n/a
6	POLR2A	chr5:41590607-41590692	MCF10A-Er-Src	breast:	n/a	n/a
7	PRDM1	chr5:41593213-41593234	Hela-S3	cervix:	n/a	n/a
8	SPI1	chr5:41590956-41591369	HL-60	blood:	n/a	chr5:41591137-41591144 chr5:41591135-41591148
9	SPI1	chr5:41586856-41587309	HL-60	blood:	n/a	n/a
10	SPI1	chr5:41586941-41587107	GM12878	blood:	n/a	n/a
11	STAT3	chr5:41586659-41586668	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr5:41594325-41594525	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:41587896-41587946	HL-60	blood:	n/a
2	chr5:41587871-41587921	AG04449	skin:	fetal
3	chr5:41587871-41587921	HNPCEpiC	eye:	n/a
4	chr5:41587931-41587981	ovcar-3	ovarian:	n/a
5	chr5:41587896-41587946	HCM	heart:	n/a
6	chr5:41587931-41587981	Hepatocyte	liver:	n/a
7	chr5:41587931-41587981	HAEpiC	amniotic membrane:	n/a
8	chr5:41587931-41587981	NHBE	bronchial:	n/a
9	chr5:41587871-41587921	IMR90	lung:	fetal
10	chr5:41587871-41587921	SK-N-MC	brain:	n/a
11	chr5:41587896-41587946	ProgFib	skin:	n/a
12	chr5:41587896-41587946	MCF-7	breast:	n/a
13	chr5:41587896-41587946	GM12892	blood:	n/a
14	chr5:41587896-41587946	HCF	heart:	n/a
15	chr5:41587896-41587946	CMK	blood:	n/a
16	chr5:41587896-41587946	AG04450	lung:	fetal
17	chr5:41587896-41587946	AG09309	skin:	n/a
18	chr5:41587871-41587921	HIPEpiC	eye:	n/a
19	chr5:41587896-41587946	BJ	skin:	n/a
20	chr5:41587896-41587946	HCPEpiC	choroid plexus:	n/a
21	chr5:41587896-41587946	HMEC	breast:	n/a
22	chr5:41587931-41587981	Caco-2	colon:	n/a
23	chr5:41587871-41587921	H1-hESC	embryonic stem cell:	embryo
24	chr5:41587896-41587946	HAEpiC	amniotic membrane:	n/a
25	chr5:41587896-41587946	NHDF-neo	bronchial:	n/a
26	chr5:41587871-41587921	PrEC	prostate:	n/a
27	chr5:41587931-41587981	AoSMC	blood vessel:	n/a
28	chr5:41587871-41587921	HUVEC	blood vessel:	n/a
29	chr5:41587896-41587946	HEEpiC	esophagus:	n/a
30	chr5:41587896-41587946	GM06990	blood:	n/a
31	chr5:41587896-41587946	NT2-D1	testis:	n/a
32	chr5:41587931-41587981	HRCEpiC	kidney:	n/a
33	chr5:41587871-41587921	ECC-1	luminal epithelium:	n/a
34	chr5:41587896-41587946	Hepatocyte	liver:	n/a
35	chr5:41587896-41587946	HepG2	liver:	n/a
36	chr5:41587931-41587981	GM12891	blood:	n/a
37	chr5:41587896-41587946	Hela-S3	cervix:	n/a
38	chr5:41587896-41587946	IMR90	lung:	fetal
39	chr5:41587896-41587946	BE2_C	brain:	n/a
40	chr5:41587896-41587946	A549	lung:	n/a
41	chr5:41587871-41587921	A549	lung:	n/a
42	chr5:41587931-41587981	SK-N-SH	brain:	n/a
43	chr5:41587896-41587946	HUVEC	blood vessel:	n/a
44	chr5:41587931-41587981	PANC-1	pancreas:	n/a
45	chr5:41587871-41587921	AG09319	gingival:	n/a
46	chr5:41587871-41587921	HRPEpiC	eye:	n/a
47	chr5:41587931-41587981	PFSK-1	brain:	n/a
48	chr5:41587896-41587946	GM12891	blood:	n/a
49	chr5:41587931-41587981	Jurkat	blood:	n/a
50	chr5:41587931-41587981	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:41585351..41589024-chr5:41590720..41593383,4	K562	blood:
2	chr5:41580372..41581911-chr5:41585183..41587101,2	K562	blood:
3	chr5:41585351..41588248-chr5:41591011..41592652,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251478	TF binding region
ENSG00000251478	CpG island
ENSG00000251478	chromatin interactions

Extended variants
information (count: 437 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:437 , 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	rs112996685	chr5:41586405-41586406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549618584	chr5:41586444-41586445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537387139	chr5:41586478-41586479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116674565	chr5:41586491-41586492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536446301	chr5:41586503-41586504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34781186	chr5:41586544-41586545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554772724	chr5:41586573-41586574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571437640	chr5:41586575-41586576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573187985	chr5:41586577-41586578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534241029	chr5:41586590-41586591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138402480	chr5:41586606-41586607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577172452	chr5:41586607-41586608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367737944	chr5:41586629-41586630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142995428	chr5:41586643-41586644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562832927	chr5:41586710-41586711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574903524	chr5:41586735-41586736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79166458	chr5:41586756-41586757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373784152	chr5:41586812-41586813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192880814	chr5:41586813-41586814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113540898	chr5:41586826-41586827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552500455	chr5:41586863-41586864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78865497	chr5:41586872-41586873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115212987	chr5:41586895-41586896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568042566	chr5:41586900-41586901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148797559	chr5:41586903-41586904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548343797	chr5:41587006-41587007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566745497	chr5:41587071-41587072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534176761	chr5:41587125-41587126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558997637	chr5:41587132-41587133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548730154	chr5:41587145-41587146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571165124	chr5:41587189-41587190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527440429	chr5:41587248-41587249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72758399	chr5:41587252-41587253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185480022	chr5:41587260-41587261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs650073	chr5:41587285-41587286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551460276	chr5:41587289-41587290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188695799	chr5:41587294-41587295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571426465	chr5:41587300-41587301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572276542	chr5:41587331-41587332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs650160	chr5:41587341-41587342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555846971	chr5:41587356-41587357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs598318	chr5:41587362-41587363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs531663249	chr5:41587364-41587365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs660833	chr5:41587375-41587376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs1318743	chr5:41587402-41587403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7703790	chr5:41587414-41587415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572423953	chr5:41587423-41587424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547093859	chr5:41587430-41587431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12658231	chr5:41587486-41587487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533050608	chr5:41587489-41587490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	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
Melanoma	18172304	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41585200-41587800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:41587800-41588000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:41588000-41596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:41589000-41589200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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