Variant report

Variant	esv3419151
Chromosome Location	chr4:106987397-107020894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106969485..106971896-chr4:106985535..106988027,2	K562	blood:
2	chr2:101487184..101487847-chr4:107019665..107020665,2	MCF-7	breast:
3	chr4:107000720..107002870-chr4:107005901..107008806,2	MCF-7	breast:
4	chr4:107000720..107002870-chr4:107005901..107008806,2	MCF-7	breast:

Extended variants
information (count: 1249 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571238646	chr4:106987419-106987420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7678847	chr4:106987426-106987427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs547638062	chr4:106987497-106987498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553312129	chr4:106987517-106987518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573212267	chr4:106987602-106987603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185047102	chr4:106987626-106987627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189563644	chr4:106987687-106987688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575282755	chr4:106987692-106987693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79177091	chr4:106987712-106987713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7679603	chr4:106987746-106987747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183262724	chr4:106987760-106987761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539884509	chr4:106987771-106987772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187648321	chr4:106987787-106987788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535255842	chr4:106987788-106987789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532695934	chr4:106987789-106987790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552339488	chr4:106987818-106987819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80154019	chr4:106987851-106987852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80005495	chr4:106987858-106987859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374191937	chr4:106987921-106987922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567752797	chr4:106987986-106987987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144847557	chr4:106988006-106988007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568400040	chr4:106988014-106988015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534174147	chr4:106988017-106988018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60474698	chr4:106988074-106988075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397975398	chr4:106988076-106988077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554252436	chr4:106988086-106988087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191952473	chr4:106988132-106988133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538968174	chr4:106988150-106988151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148182600	chr4:106988156-106988157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183328956	chr4:106988163-106988164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575370395	chr4:106988207-106988208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544247322	chr4:106988208-106988209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78288991	chr4:106988387-106988388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574524234	chr4:106988456-106988457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539820787	chr4:106988480-106988481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141534732	chr4:106988491-106988492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532635668	chr4:106988502-106988503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546112641	chr4:106988549-106988550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563053992	chr4:106988562-106988563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377557769	chr4:106988571-106988572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548803508	chr4:106988594-106988595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547860118	chr4:106988626-106988627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199666722	chr4:106988638-106988639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188441409	chr4:106988669-106988670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547796110	chr4:106988700-106988701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570873565	chr4:106988781-106988782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75004752	chr4:106988813-106988814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552189748	chr4:106988838-106988839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139240965	chr4:106988839-106988840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537642529	chr4:106988856-106988857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106967800-106994600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:106972400-106997000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:106983800-106994800	Weak transcription	Fetal Kidney	kidney
4	chr4:106983800-106995000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:106984000-106995000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:106984000-107010200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:106984600-106998200	Weak transcription	Fetal Heart	heart
8	chr4:106985000-107011400	Weak transcription	HepG2	liver
9	chr4:106986800-107002400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:106987000-106995800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:106988000-106994800	Weak transcription	Aorta	Aorta
12	chr4:106990000-106998000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:106991600-106992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:106992400-106998000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:106992600-106993000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:106992600-106994800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:106993000-107008800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:106993200-106997000	Weak transcription	Gastric	stomach
19	chr4:106993200-106997200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:106993200-106997800	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:106993200-107010000	Weak transcription	Left Ventricle	heart
22	chr4:106993400-106998200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:106993400-107010400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:106993600-106994000	ZNF genes & repeats	Liver	Liver
25	chr4:106993600-106998200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:106993600-106998400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:106993600-107002400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:106993600-107010000	Weak transcription	Right Ventricle	heart
29	chr4:106993800-106995000	Weak transcription	Pancreas	Pancrea
30	chr4:106993800-107010800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:106994000-106994800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:106994200-106994800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:106994200-106994800	Weak transcription	Ovary	ovary
34	chr4:106994400-106994600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:106994400-106994800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:106994400-106994800	Weak transcription	Primary T cells from cord blood	blood
37	chr4:106994400-106996200	ZNF genes & repeats	Liver	Liver
38	chr4:106994400-106997000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:106994400-106997000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:106994400-106998400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:106994600-106994800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:106994600-106995200	ZNF genes & repeats	Fetal Lung	lung
43	chr4:106994600-106995200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
44	chr4:106994600-106995400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr4:106994600-106995400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:106994600-106995400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:106994600-106995400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr4:106994600-106995400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr4:106994600-106995400	ZNF genes & repeats	Fetal Stomach	stomach
50	chr4:106994600-106996200	ZNF genes & repeats	Fetal Intestine Large	intestine

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