Variant report

Variant	esv3476807
Chromosome Location	chr7:136279874-136280383
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	chr7:136276545..136280416-chr7:136280631..136284223,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527848537	chr7:136279899-136279900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548551073	chr7:136279904-136279905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567944315	chr7:136279967-136279968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58628355	chr7:136279990-136279991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1364745	chr7:136279993-136279994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186418486	chr7:136280003-136280004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538365564	chr7:136280008-136280009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372938022	chr7:136280021-136280022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567622977	chr7:136280065-136280066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78664452	chr7:136280106-136280107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541220430	chr7:136280121-136280122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191227380	chr7:136280169-136280170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1425157	chr7:136280209-136280210	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542687342	chr7:136280242-136280243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116809894	chr7:136280291-136280292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531703267	chr7:136280292-136280293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148010685	chr7:136280296-136280297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183392196	chr7:136280331-136280332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527935378	chr7:136280346-136280347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57349342	chr7:136280350-136280351	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136278600-136280800	Enhancers	Colon Smooth Muscle	Colon
2	chr7:136279200-136280800	Enhancers	Rectal Smooth Muscle	rectum
3	chr7:136279400-136280000	Enhancers	Fetal Lung	lung
4	chr7:136279600-136280200	Enhancers	Fetal Brain Male	brain
5	chr7:136279600-136280600	Weak transcription	Fetal Stomach	stomach

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