Variant report

Variant	nsv963605
Chromosome Location	chr4:69083609-69086551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:69086517-69086666	K562	blood:	n/a	n/a
2	FOS	chr4:69083875-69084084	MCF10A-Er-Src	breast:	n/a	chr4:69083968-69083979 chr4:69083954-69083962 chr4:69083952-69083964
3	FOS	chr4:69083799-69084110	MCF10A-Er-Src	breast:	n/a	chr4:69083968-69083979 chr4:69083954-69083962 chr4:69083952-69083964
4	FOS	chr4:69083797-69084101	MCF10A-Er-Src	breast:	n/a	chr4:69083968-69083979 chr4:69083954-69083962 chr4:69083952-69083964
5	FOS	chr4:69083789-69084101	MCF10A-Er-Src	breast:	n/a	chr4:69083968-69083979 chr4:69083954-69083962 chr4:69083952-69083964
6	GTF2F1	chr4:69084062-69084217	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr4:69086518-69086793	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:69085264-69085321	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69084723-69084773	T-47D	breast:	n/a
2	chr4:69083729-69083779	HEK293	kidney:	embryo
3	chr4:69083729-69083779	GM12878	blood:	n/a
4	chr4:69084723-69084773	HCPEpiC	choroid plexus:	n/a
5	chr4:69083729-69083779	HCF	heart:	n/a
6	chr4:69084723-69084773	IMR90	lung:	fetal
7	chr4:69084723-69084773	BE2_C	brain:	n/a
8	chr4:69083729-69083779	Hepatocyte	liver:	n/a
9	chr4:69083729-69083779	HNPCEpiC	eye:	n/a
10	chr4:69084723-69084773	CMK	blood:	n/a
11	chr4:69084723-69084773	NB4	blood:	n/a
12	chr4:69083729-69083779	H1-hESC	embryonic stem cell:	embryo
13	chr4:69083729-69083779	HRPEpiC	eye:	n/a
14	chr4:69083729-69083779	HEEpiC	esophagus:	n/a
15	chr4:69083729-69083779	HRCEpiC	kidney:	n/a
16	chr4:69083729-69083779	HIPEpiC	eye:	n/a
17	chr4:69083729-69083779	SK-N-MC	brain:	n/a
18	chr4:69084723-69084773	HPAEpiC	pulmonary alveolar:	n/a
19	chr4:69084723-69084773	AG04450	lung:	fetal
20	chr4:69084723-69084773	GM12878	blood:	n/a
21	chr4:69084723-69084773	Jurkat	blood:	n/a
22	chr4:69084723-69084773	K562	blood:	n/a
23	chr4:69083729-69083779	HMEC	breast:	n/a
24	chr4:69084723-69084773	PFSK-1	brain:	n/a
25	chr4:69083729-69083779	LNCaP	prostate:	n/a
26	chr4:69083729-69083779	HUVEC	blood vessel:	n/a
27	chr4:69084723-69084773	BJ	skin:	n/a
28	chr4:69084723-69084773	ProgFib	skin:	n/a
29	chr4:69083729-69083779	HPAEpiC	pulmonary alveolar:	n/a
30	chr4:69083729-69083779	GM12892	blood:	n/a
31	chr4:69084723-69084773	NHBE	bronchial:	n/a
32	chr4:69084723-69084773	HAEpiC	amniotic membrane:	n/a
33	chr4:69083729-69083779	AoSMC	blood vessel:	n/a
34	chr4:69084723-69084773	PrEC	prostate:	n/a
35	chr4:69084723-69084773	SK-N-MC	brain:	n/a
36	chr4:69084723-69084773	AG10803	skin:	n/a
37	chr4:69084723-69084773	PANC-1	pancreas:	n/a
38	chr4:69083729-69083779	NHBE	bronchial:	n/a
39	chr4:69084723-69084773	SKMC	muscle:	n/a
40	chr4:69084723-69084773	HMEC	breast:	n/a
41	chr4:69083729-69083779	A549	lung:	n/a
42	chr4:69083729-69083779	HL-60	blood:	n/a
43	chr4:69083729-69083779	NT2-D1	testis:	n/a
44	chr4:69083729-69083779	PANC-1	pancreas:	n/a
45	chr4:69084723-69084773	AG09319	gingival:	n/a
46	chr4:69083729-69083779	AG09309	skin:	n/a
47	chr4:69083729-69083779	Jurkat	blood:	n/a
48	chr4:69084723-69084773	SK-N-SH_RA	brain:	n/a
49	chr4:69084723-69084773	HCF	heart:	n/a
50	chr4:69083729-69083779	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69078600..69080157-chr4:69085569..69088456,2	MCF-7	breast:
2	chr4:69084812..69087062-chr4:69097475..69100132,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMPRSS11BNL-1	chr4:69083624-69083721	NONHSAT096727
2	lnc-TMPRSS11BNL-1	chr4:69083624-69083722	NONHSAT096726

No data

Variant related genes	Relation type
TMPRSS11BNL	TF binding region
ENSG00000250026	TF binding region
TMPRSS11BNL	CpG island
ENSG00000250026	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142904566	chr4:69083634-69083635	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs551550752	chr4:69083656-69083657	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs571345763	chr4:69083665-69083666	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs535460243	chr4:69083674-69083675	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533588883	chr4:69083702-69083703	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs576569159	chr4:69083723-69083724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34260584	chr4:69083864-69083865	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs34548520	chr4:69083869-69083870	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs544379426	chr4:69083871-69083872	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs397720851	chr4:69083877-69083878	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs201299317	chr4:69083878-69083879	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs199658820	chr4:69083879-69083880	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs151097646	chr4:69083886-69083887	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs567101798	chr4:69083897-69083898	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs75176935	chr4:69083927-69083928	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs12512581	chr4:69083953-69083954	Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539727826	chr4:69083963-69083964	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs11447187	chr4:69084008-69084009	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs397792446	chr4:69084010-69084011	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs139543060	chr4:69084085-69084086	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs538424606	chr4:69084102-69084103	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs75942551	chr4:69084118-69084119	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs145174664	chr4:69084178-69084179	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs190890629	chr4:69084724-69084725	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
25	rs549689898	chr4:69084728-69084729	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
26	rs376174880	chr4:69085265-69085266	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs11735405	chr4:69085306-69085307	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ollier disease	21235737	CNVD
Autism	21865298	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Incontinentia Pigmenti	22033527	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69080400-69084200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:69082000-69083800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:69082000-69084200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:69082200-69084200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:69083000-69083800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:69083200-69084000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:69083400-69084200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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