Variant report

Variant	esv3503859
Chromosome Location	chr4:172164271-172188649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172177030..172177816-chr8:102919199..102919846,2	MCF-7	breast:
2	chr4:172177315..172180021-chr4:172192339..172193935,2	MCF-7	breast:
3	chr4:172176185..172177998-chr4:172184705..172186321,2	MCF-7	breast:
4	chr4:172164256..172166842-chr4:172197011..172199170,2	MCF-7	breast:
5	chr4:172176185..172177998-chr4:172184705..172186321,2	MCF-7	breast:

Extended variants
information (count: 289 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562372452	chr4:172164284-172164285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538674781	chr4:172164303-172164304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542234235	chr4:172164307-172164308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558873876	chr4:172164324-172164325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566046927	chr4:172164338-172164339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535167176	chr4:172164404-172164405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554574832	chr4:172164408-172164409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188743320	chr4:172164434-172164435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373581986	chr4:172164435-172164436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575121429	chr4:172164480-172164481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367743682	chr4:172164576-172164577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544008529	chr4:172164653-172164654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562219384	chr4:172164666-172164667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557707928	chr4:172164691-172164692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144762384	chr4:172164747-172164748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138792846	chr4:172164794-172164795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544688524	chr4:172164816-172164817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564848836	chr4:172164832-172164833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531391579	chr4:172164855-172164856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147905827	chr4:172164876-172164877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181600950	chr4:172164910-172164911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141600693	chr4:172164914-172164915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560632470	chr4:172165010-172165011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1491336	chr4:172165118-172165119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549532561	chr4:172165165-172165166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35774231	chr4:172173613-172173614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372062999	chr4:172173620-172173621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542245863	chr4:172173622-172173623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72976027	chr4:172173646-172173647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139372659	chr4:172173648-172173649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544412254	chr4:172173667-172173668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535500819	chr4:172173738-172173739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138720845	chr4:172173739-172173740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368529621	chr4:172173740-172173741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112305406	chr4:172173750-172173751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111335192	chr4:172173754-172173755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184607740	chr4:172173755-172173756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533577058	chr4:172173761-172173762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555705033	chr4:172173836-172173837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143280097	chr4:172173898-172173899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72976032	chr4:172173899-172173900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147518678	chr4:172173902-172173903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371235634	chr4:172173903-172173904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550422754	chr4:172173923-172173924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566291657	chr4:172173928-172173929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189928758	chr4:172173929-172173930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375162824	chr4:172173956-172173957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72976033	chr4:172173973-172173974	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573070275	chr4:172173985-172173986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368382063	chr4:172174006-172174007	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172161400-172164400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:172164000-172164600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:172164200-172165200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr4:172164400-172164800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:172164400-172165000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:172173600-172174200	Enhancers	Brain Germinal Matrix	brain
7	chr4:172177200-172180200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:172177800-172178000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:172177800-172178200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:172177800-172178400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:172178200-172179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:172179000-172180000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:172185400-172185800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:172185800-172188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:172188000-172188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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