Variant report

Variant	esv3447637
Chromosome Location	chr7:87130891-87133089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87126316..87128492-chr7:87132921..87135046,2	K562	blood:
2	chr7:87126316..87128624-chr7:87132901..87135046,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544740353	chr7:87130893-87130894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112811804	chr7:87130947-87130948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574729211	chr7:87131009-87131010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542036926	chr7:87131055-87131056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191879504	chr7:87131126-87131127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562272269	chr7:87131140-87131141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184306587	chr7:87131187-87131188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187491833	chr7:87131188-87131189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193060794	chr7:87131210-87131211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79703933	chr7:87131279-87131280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549930781	chr7:87131331-87131332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529588792	chr7:87131342-87131343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568245288	chr7:87131379-87131380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529072822	chr7:87131399-87131400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548249588	chr7:87131408-87131409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12539997	chr7:87131423-87131424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs539763418	chr7:87131424-87131425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552287808	chr7:87131439-87131440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142654916	chr7:87131443-87131444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114984708	chr7:87131445-87131446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564056129	chr7:87131450-87131451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112383105	chr7:87131474-87131475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533028647	chr7:87131480-87131481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555576598	chr7:87131481-87131482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578255900	chr7:87131482-87131483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562320021	chr7:87131483-87131484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574611526	chr7:87131536-87131537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59768761	chr7:87131544-87131545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553953556	chr7:87131560-87131561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572637537	chr7:87131563-87131564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185776931	chr7:87131572-87131573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563903668	chr7:87131593-87131594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189036558	chr7:87131596-87131597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566356937	chr7:87131638-87131639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138939162	chr7:87131728-87131729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149363203	chr7:87131729-87131730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561719421	chr7:87131747-87131748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201490243	chr7:87131748-87131749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199993454	chr7:87131758-87131759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543888190	chr7:87131775-87131776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529008001	chr7:87131804-87131805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372338262	chr7:87131818-87131819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531878507	chr7:87131832-87131833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375634641	chr7:87131837-87131838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573291065	chr7:87131864-87131865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369443157	chr7:87131865-87131866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376184078	chr7:87131868-87131869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547605098	chr7:87131869-87131870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559547027	chr7:87131870-87131871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533058118	chr7:87131871-87131872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87126600-87138200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:87128000-87133600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:87128000-87134400	Weak transcription	Primary T cells from cord blood	blood
4	chr7:87128200-87132600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:87128200-87134200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:87128200-87134600	Weak transcription	HepG2	liver
7	chr7:87128200-87134800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:87128600-87132800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:87129200-87134200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:87129200-87136200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:87129400-87138200	Weak transcription	Primary B cells from cord blood	blood
12	chr7:87129800-87134800	Weak transcription	Liver	Liver
13	chr7:87130000-87135200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:87130600-87133600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:87131000-87134800	Weak transcription	Placenta	Placenta
16	chr7:87132600-87151400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:87132800-87138000	Weak transcription	Fetal Intestine Large	intestine
18	chr7:87132800-87153400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:87133000-87137800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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