Variant report

Variant	esv3383277
Chromosome Location	chr7:100638453-100643007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199794194	chr7:100638484-100638485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535011221	chr7:100638558-100638559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547231519	chr7:100638573-100638574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568332699	chr7:100638602-100638603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200598041	chr7:100638611-100638612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202000974	chr7:100638621-100638622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374620764	chr7:100638641-100638642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535626065	chr7:100638642-100638643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557113532	chr7:100638671-100638672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575370022	chr7:100638676-100638677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377643906	chr7:100638696-100638697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373607137	chr7:100638701-100638702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77884908	chr7:100638705-100638706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370247484	chr7:100638708-100638709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573142089	chr7:100638719-100638720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540974523	chr7:100638721-100638722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559650211	chr7:100638732-100638733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10249343	chr7:100638746-100638747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75280441	chr7:100638756-100638757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542072875	chr7:100638792-100638793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201895349	chr7:100638806-100638807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200077223	chr7:100638819-100638820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56914801	chr7:100638828-100638829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530559723	chr7:100638831-100638832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372469159	chr7:100638844-100638845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563935886	chr7:100638850-100638851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371899686	chr7:100638851-100638852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528056533	chr7:100638855-100638856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28463186	chr7:100638856-100638857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376513428	chr7:100638862-100638863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535733415	chr7:100638877-100638878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550806264	chr7:100638882-100638883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367914707	chr7:100638883-100638884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4729634	chr7:100638887-100638888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539551196	chr7:100638888-100638889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189580689	chr7:100638889-100638890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374537945	chr7:100638894-100638895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368212676	chr7:100638895-100638896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371243188	chr7:100638899-100638900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369115307	chr7:100638929-100638930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534166778	chr7:100638940-100638941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116336397	chr7:100638941-100638942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377220169	chr7:100638942-100638943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574818358	chr7:100638945-100638946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542136097	chr7:100638948-100638949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373984966	chr7:100638951-100638952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76458326	chr7:100638979-100638980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373887154	chr7:100638995-100638996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545596210	chr7:100638996-100638997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564180911	chr7:100639003-100639004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100635400-100660000	Weak transcription	Gastric	stomach
2	chr7:100635600-100648200	Weak transcription	Colonic Mucosa	Colon
3	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
5	chr7:100636400-100642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:100636400-100647800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:100637800-100641800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:100641800-100644000	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr7:100642400-100643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:100642600-100643600	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:100642800-100643400	Weak transcription	Fetal Intestine Small	intestine

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