Variant report

Variant	esv1803650
Chromosome Location	chr4:171488713-171523699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:171510470..171511103-chr4:171637783..171638586,3	MCF-7	breast:
2	chr4:171512901..171514454-chr4:171522279..171524910,2	K562	blood:
3	chr4:171510598..171511665-chr4:171774140..171775062,4	MCF-7	breast:
4	chr12:42528394..42528943-chr4:171498226..171498870,2	MCF-7	breast:
5	chr4:171515518..171516388-chr4:171637945..171638514,2	MCF-7	breast:
6	chr4:171510438..171511386-chr4:172107962..172108533,2	MCF-7	breast:
7	chr4:171510370..171511381-chr4:171774385..171775274,7	MCF-7	breast:
8	chr4:171512901..171514454-chr4:171522279..171524910,2	K562	blood:
9	chr4:171510421..171511267-chr4:171775848..171776873,4	MCF-7	breast:
10	chr4:171510484..171511294-chr4:171637729..171638500,2	MCF-7	breast:

No data

Extended variants
information (count: 128 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138512788	chr4:171499839-171499840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142258105	chr4:171499866-171499867	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185650956	chr4:171499874-171499875	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563490330	chr4:171499880-171499881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544261506	chr4:171499918-171499919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189605863	chr4:171499920-171499921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535681835	chr4:171499976-171499977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181534331	chr4:171499983-171499984	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs407489	chr4:171499999-171500000	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186149406	chr4:171500030-171500031	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574676682	chr4:171500064-171500065	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs72975826	chr4:171500117-171500118	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138452272	chr4:171500128-171500129	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534382883	chr4:171502616-171502617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555629876	chr4:171502619-171502620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139827230	chr4:171502622-171502623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144519301	chr4:171502651-171502652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537477451	chr4:171502670-171502671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147849200	chr4:171502688-171502689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113562262	chr4:171502701-171502702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545007435	chr4:171502717-171502718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560373117	chr4:171502729-171502730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572193101	chr4:171502733-171502734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188141872	chr4:171502824-171502825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142607591	chr4:171502871-171502872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539940526	chr4:171502938-171502939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115892918	chr4:171502971-171502972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529217815	chr4:171503140-171503141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564841181	chr4:171503170-171503171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192671006	chr4:171503217-171503218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184468324	chr4:171503234-171503235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76221910	chr4:171503244-171503245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547411797	chr4:171503298-171503299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551818006	chr4:171503355-171503356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577035974	chr4:171503364-171503365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376360171	chr4:171503401-171503402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189327048	chr4:171503404-171503405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534171668	chr4:171503414-171503415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150964456	chr4:171503419-171503420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372519471	chr4:171503521-171503522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140787008	chr4:171503590-171503591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537254809	chr4:171505647-171505648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558674379	chr4:171505688-171505689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576877638	chr4:171505711-171505712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541152201	chr4:171505717-171505718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552769886	chr4:171505736-171505737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376356385	chr4:171505746-171505747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541414587	chr4:171505793-171505794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189059626	chr4:171505868-171505869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181869372	chr4:171505883-171505884	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Autism	20808228	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171499800-171500200	Active TSS	Adipose Nuclei	Adipose
2	chr4:171502600-171503000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:171502600-171503200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:171502600-171503600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:171502800-171503200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr4:171502800-171503200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:171502800-171503600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:171505600-171506800	Enhancers	Fetal Brain Male	brain
9	chr4:171512200-171512600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:171512400-171513000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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