Variant report

Variant	esv3377181
Chromosome Location	chr7:127765666-127767764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127734758..127737668-chr7:127763365..127766176,2	K562	blood:
2	chr7:127753827..127756427-chr7:127766047..127767569,2	K562	blood:
3	chr7:127766104..127769053-chr7:127772812..127775093,2	MCF-7	breast:
4	chr7:127734758..127738581-chr7:127762335..127766176,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs322770	chr7:127765737-127765738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567772435	chr7:127765741-127765742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187974837	chr7:127765806-127765807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540686257	chr7:127765815-127765816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373082111	chr7:127765886-127765887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142899842	chr7:127765953-127765954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564857625	chr7:127766088-127766089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192395749	chr7:127766128-127766129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540102752	chr7:127766219-127766220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557899002	chr7:127766261-127766262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185296450	chr7:127766274-127766275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544084250	chr7:127766298-127766299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562214749	chr7:127766350-127766351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190152125	chr7:127766352-127766353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145996152	chr7:127766366-127766367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10258271	chr7:127766400-127766401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs139586570	chr7:127766402-127766403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71160609	chr7:127766445-127766446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373444479	chr7:127766552-127766553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112595953	chr7:127766728-127766729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552439775	chr7:127766775-127766776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529267065	chr7:127766826-127766827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563974681	chr7:127766866-127766867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181456067	chr7:127766868-127766869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12113153	chr7:127766896-127766897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541776227	chr7:127766926-127766927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375563901	chr7:127766931-127766932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147189383	chr7:127766935-127766936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531958290	chr7:127767086-127767087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550093996	chr7:127767087-127767088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546240253	chr7:127767132-127767133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560074245	chr7:127767151-127767152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559544561	chr7:127767153-127767154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528720576	chr7:127767218-127767219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149317441	chr7:127767219-127767220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28532476	chr7:127767225-127767226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569091885	chr7:127767244-127767245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539784017	chr7:127767264-127767265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58238034	chr7:127767267-127767268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558423734	chr7:127767290-127767291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111924982	chr7:127767339-127767340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573410379	chr7:127767360-127767361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564127903	chr7:127767364-127767365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80138283	chr7:127767385-127767386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73457801	chr7:127767465-127767466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571855632	chr7:127767494-127767495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574213788	chr7:127767616-127767617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544703778	chr7:127767637-127767638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563516113	chr7:127767662-127767663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116271246	chr7:127767678-127767679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127762400-127772000	Weak transcription	Right Atrium	heart
2	chr7:127763000-127766000	Weak transcription	Adipose Nuclei	Adipose
3	chr7:127764000-127765800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:127764200-127769000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:127765200-127766000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:127765800-127766200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:127766000-127766200	Enhancers	Adipose Nuclei	Adipose
8	chr7:127766000-127766400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:127766200-127769200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:127766400-127768800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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