Variant report

Variant	esv3376228
Chromosome Location	chr7:99284466-99287164
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	chr7:99278416..99280408-chr7:99285917..99287760,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545612578	chr7:99284480-99284481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542198474	chr7:99284498-99284499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199971270	chr7:99284527-99284528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560048009	chr7:99284540-99284541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373242867	chr7:99284551-99284552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568778808	chr7:99284581-99284582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529258359	chr7:99284590-99284591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550975021	chr7:99284595-99284596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569219240	chr7:99284654-99284655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539908069	chr7:99284666-99284667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571956698	chr7:99284690-99284691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528371419	chr7:99284694-99284695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372477378	chr7:99284695-99284696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558000526	chr7:99284712-99284713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376693384	chr7:99284730-99284731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570311773	chr7:99284741-99284742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369876356	chr7:99284758-99284759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534549058	chr7:99284808-99284809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552810080	chr7:99284825-99284826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189381605	chr7:99284857-99284858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535069288	chr7:99284881-99284882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377615716	chr7:99284895-99284896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180737314	chr7:99284910-99284911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144609916	chr7:99284957-99284958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115841172	chr7:99284963-99284964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563860566	chr7:99285007-99285008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564208892	chr7:99285017-99285018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186170038	chr7:99285021-99285022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540832503	chr7:99285041-99285042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562339837	chr7:99285075-99285076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529629515	chr7:99285076-99285077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551026351	chr7:99285096-99285097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562880546	chr7:99285115-99285116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190054891	chr7:99285162-99285163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531336091	chr7:99285184-99285185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549552773	chr7:99285185-99285186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534466629	chr7:99285268-99285269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551646623	chr7:99285304-99285305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546402463	chr7:99285324-99285325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567945869	chr7:99285329-99285330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535716396	chr7:99285333-99285334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182706097	chr7:99285339-99285340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138505315	chr7:99285341-99285342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539071519	chr7:99285389-99285390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557838884	chr7:99285447-99285448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200742143	chr7:99285465-99285466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556807160	chr7:99285480-99285481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186086593	chr7:99285489-99285490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1083109	chr7:99285537-99285538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190750497	chr7:99285612-99285613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99273800-99290400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:99277000-99295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:99278000-99290800	Weak transcription	Pancreas	Pancrea
4	chr7:99278400-99289000	Weak transcription	Psoas Muscle	Psoas
5	chr7:99283800-99284600	Enhancers	K562	blood
6	chr7:99283800-99290200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:99284600-99290200	Weak transcription	K562	blood

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