Variant report

Variant	esv2647340
Chromosome Location	chr7:136833446-136835094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554264181	chr7:136833446-136833447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377419848	chr7:136833471-136833472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183081890	chr7:136833533-136833534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570825392	chr7:136833541-136833542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551713047	chr7:136833586-136833587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539854513	chr7:136833608-136833609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367907703	chr7:136833660-136833661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565337757	chr7:136833674-136833675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs832965	chr7:136833677-136833678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375507551	chr7:136833700-136833701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548477298	chr7:136833712-136833713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527469547	chr7:136833719-136833720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537283072	chr7:136833721-136833722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556382660	chr7:136833757-136833758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570206792	chr7:136833759-136833760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539146068	chr7:136833826-136833827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368050002	chr7:136833877-136833878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4419759	chr7:136833897-136833898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558946289	chr7:136833898-136833899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572496146	chr7:136833913-136833914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs706552	chr7:136833922-136833923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35086920	chr7:136833962-136833963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555277312	chr7:136833977-136833978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574931180	chr7:136833979-136833980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186298448	chr7:136834033-136834034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4636150	chr7:136834037-136834038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4434562	chr7:136834080-136834081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375005584	chr7:136834101-136834102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76981098	chr7:136834127-136834128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145734338	chr7:136834189-136834190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545514742	chr7:136834224-136834225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115057832	chr7:136834229-136834230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116703344	chr7:136834269-136834270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4610684	chr7:136834318-136834319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377660676	chr7:136834325-136834326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75388288	chr7:136834336-136834337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548164245	chr7:136834402-136834403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568392141	chr7:136834412-136834413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530611476	chr7:136834456-136834457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377398997	chr7:136834464-136834465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201919033	chr7:136834467-136834468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75286732	chr7:136834528-136834529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74853733	chr7:136834692-136834693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550756448	chr7:136834702-136834703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570664437	chr7:136834704-136834705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539109391	chr7:136834743-136834744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201635775	chr7:136834750-136834751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200166898	chr7:136834751-136834752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555355984	chr7:136834775-136834776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566064814	chr7:136834815-136834816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136830200-136834000	Enhancers	Colon Smooth Muscle	Colon
2	chr7:136830200-136834400	Enhancers	Fetal Heart	heart
3	chr7:136830600-136833800	Enhancers	Fetal Stomach	stomach
4	chr7:136830800-136834000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:136832000-136833800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:136832200-136835600	Weak transcription	Fetal Kidney	kidney
7	chr7:136832400-136835800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:136832800-136835600	Weak transcription	Osteobl	bone
9	chr7:136833000-136833600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:136833000-136835600	Weak transcription	NH-A	brain
11	chr7:136833000-136838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:136833200-136835200	Weak transcription	NHLF	lung
13	chr7:136833600-136833800	Enhancers	Rectal Smooth Muscle	rectum
14	chr7:136833800-136834800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:136833800-136835000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:136833800-136835200	Weak transcription	Fetal Stomach	stomach
17	chr7:136834000-136835200	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:136834000-136835400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:136834400-136834800	Weak transcription	Fetal Heart	heart
20	chr7:136834800-136835200	Enhancers	Fetal Heart	heart
21	chr7:136834800-136837200	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:136835000-136836200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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