Variant report

Variant	nsv594954
Chromosome Location	chr4:102639502-102659750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:290)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:102651772-102651979	HepG2	liver:	n/a	n/a
2	BATF	chr4:102651652-102651967	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:102645420-102645722	GM12878	blood:	n/a	n/a
4	CBX3	chr4:102651391-102652158	HCT-116	colon:	n/a	n/a
5	CEBPB	chr4:102648976-102649113	IMR90	lung:	n/a	n/a
6	CHD2	chr4:102645300-102645668	GM12878	blood:	n/a	n/a
7	CTCF	chr4:102651735-102651947	GM12891	blood:	n/a	n/a
8	CTCF	chr4:102651820-102651970	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr4:102651780-102651930	AG04449	skin:	n/a	n/a
10	CTCF	chr4:102651764-102651960	LNCaP	prostate:	n/a	n/a
11	CTCF	chr4:102653540-102653690	HVMF	connective:	n/a	n/a
12	CTCF	chr4:102644084-102644127	K562	blood:	n/a	n/a
13	CTCF	chr4:102651695-102652052	K562	blood:	n/a	n/a
14	CTCF	chr4:102651728-102652014	GM12878	blood:	n/a	n/a
15	CTCF	chr4:102651768-102651904	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:102651820-102651970	Caco-2	colon:	n/a	n/a
17	CTCF	chr4:102651800-102651950	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr4:102651780-102651930	AG10803	skin:	n/a	n/a
19	CTCF	chr4:102651760-102651910	HEK293	kidney:	n/a	n/a
20	CTCF	chr4:102651705-102651973	HepG2	liver:	n/a	n/a
21	CTCF	chr4:102651800-102651950	BJ	skin:	n/a	n/a
22	CTCF	chr4:102651460-102651610	SAEC	small airway:	n/a	n/a
23	CTCF	chr4:102651760-102651910	SAEC	small airway:	n/a	n/a
24	CTCF	chr4:102651800-102651950	GM12866	blood:	n/a	n/a
25	CTCF	chr4:102651780-102651930	GM12878	blood:	n/a	n/a
26	CTCF	chr4:102651760-102651910	HRE	kidney:	n/a	n/a
27	CTCF	chr4:102651760-102651910	GM12870	blood:	n/a	n/a
28	CTCF	chr4:102651721-102651989	ProgFib	skin:	n/a	n/a
29	CTCF	chr4:102651820-102651970	GM12878	blood:	n/a	n/a
30	CTCF	chr4:102651755-102651980	GM13976	blood:	n/a	n/a
31	CTCF	chr4:102651760-102651910	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr4:102651820-102651970	HMF	breast:	n/a	n/a
33	CTCF	chr4:102651780-102651930	GM12873	blood:	n/a	n/a
34	CTCF	chr4:102653380-102653530	HVMF	connective:	n/a	n/a
35	CTCF	chr4:102651760-102651910	HepG2	liver:	n/a	n/a
36	CTCF	chr4:102651780-102651930	GM12872	blood:	n/a	n/a
37	CTCF	chr4:102651780-102651930	HL-60	blood:	n/a	n/a
38	CTCF	chr4:102651784-102651969	LNCaP	prostate:	n/a	n/a
39	CTCF	chr4:102651729-102651962	GM19240	blood:	n/a	n/a
40	CTCF	chr4:102652020-102652170	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr4:102651748-102651987	T-47D	breast:	n/a	n/a
42	CTCF	chr4:102651800-102651950	HPF	lung:	n/a	n/a
43	CTCF	chr4:102651744-102651944	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:102651780-102651930	HMEC	breast:	n/a	n/a
45	CTCF	chr4:102651820-102651970	GM12864	blood:	n/a	n/a
46	CTCF	chr4:102651840-102651990	HAc	cerebellar:	n/a	n/a
47	CTCF	chr4:102651752-102651942	MCF-7	breast:	n/a	n/a
48	CTCF	chr4:102651820-102651970	HCT-116	colon:	n/a	n/a
49	CTCF	chr4:102651820-102651970	BE2_C	brain:	n/a	n/a
50	CTCF	chr4:102651780-102651930	HAc	cerebellar:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:102151616..102153523-chr4:102648348..102650655,2	MCF-7	breast:
2	chr4:102090091..102091062-chr4:102651393..102652212,3	MCF-7	breast:
3	chr4:102090452..102090967-chr4:102651453..102652195,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-462P	TF binding region

Extended variants
information (count: 406 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:406 , 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	rs536237168	chr4:102640044-102640045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs538555210	chr4:102640084-102640085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs148865701	chr4:102640089-102640090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs181963995	chr4:102640189-102640190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs115482692	chr4:102640229-102640230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186795208	chr4:102640256-102640257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs189990731	chr4:102640272-102640273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs563036603	chr4:102640273-102640274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562764958	chr4:102640317-102640318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs10433986	chr4:102640341-102640342	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs541829701	chr4:102640342-102640343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs182166188	chr4:102640359-102640360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs79712596	chr4:102640406-102640407	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs552260006	chr4:102640425-102640426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs180769385	chr4:102640723-102640724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs12501586	chr4:102642012-102642013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs530233313	chr4:102642048-102642049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78729535	chr4:102642052-102642053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548417633	chr4:102642061-102642062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12648423	chr4:102642073-102642074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530465735	chr4:102642094-102642095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573437437	chr4:102642117-102642118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552522171	chr4:102642139-102642140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570778245	chr4:102642173-102642174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144116097	chr4:102642175-102642176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550303281	chr4:102642205-102642206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568618177	chr4:102642221-102642222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183801638	chr4:102642269-102642270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372274944	chr4:102642275-102642276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572285642	chr4:102642289-102642290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12506451	chr4:102642299-102642300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7660525	chr4:102642344-102642345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575956113	chr4:102642401-102642402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10856962	chr4:102642453-102642454	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150682876	chr4:102642455-102642456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116407414	chr4:102642476-102642477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373195369	chr4:102642502-102642503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12506517	chr4:102642526-102642527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs538517530	chr4:102642535-102642536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565614527	chr4:102642704-102642705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138895076	chr4:102642825-102642826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556930747	chr4:102642881-102642882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527957346	chr4:102642904-102642905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531125351	chr4:102642958-102642959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368058422	chr4:102642986-102642987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577705539	chr4:102643064-102643065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564458967	chr4:102643075-102643076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531735704	chr4:102643076-102643077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550240524	chr4:102643098-102643099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144780302	chr4:102643156-102643157	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102642000-102643800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:102645000-102645800	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:102645200-102645600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:102645200-102645600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:102645200-102645600	Active TSS	Duodenum Mucosa	Duodenum
6	chr4:102645200-102645600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:102645200-102645800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:102645200-102645800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:102645400-102645800	Active TSS	Gastric	stomach
10	chr4:102645400-102645800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr4:102645800-102651200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:102651200-102652200	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:102651600-102652200	Enhancers	A549	lung
14	chr4:102651800-102652200	Enhancers	Stomach Mucosa	stomach
15	chr4:102654600-102655000	Enhancers	Adipose Nuclei	Adipose
16	chr4:102654600-102655800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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