Variant report

Variant	esv3347721
Chromosome Location	chr7:100349523-100349715
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	chr7:100349143..100350800-chr7:100355026..100357418,2	K562	blood:
2	chr7:100348273..100350219-chr7:100392224..100395029,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373525572	chr7:100349544-100349545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377563769	chr7:100349568-100349569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540456930	chr7:100349577-100349578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369052323	chr7:100349608-100349609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561745860	chr7:100349614-100349615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372657856	chr7:100349617-100349618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182998971	chr7:100349625-100349626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529045205	chr7:100349629-100349630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200877803	chr7:100349634-100349635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544216404	chr7:100349651-100349652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562427099	chr7:100349654-100349655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13241111	chr7:100349655-100349656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551756814	chr7:100349658-100349659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371091501	chr7:100349675-100349676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13241019	chr7:100349685-100349686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13241022	chr7:100349687-100349688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370829788	chr7:100349693-100349694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13241331	chr7:100349694-100349695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13228386	chr7:100349695-100349696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527863666	chr7:100349697-100349698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13241031	chr7:100349702-100349703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13241142	chr7:100349709-100349710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100343200-100356000	Weak transcription	Right Atrium	heart
2	chr7:100349000-100355800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100349200-100351000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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