Variant report

Variant	esv1246846
Chromosome Location	chr7:104931511-104931512
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	chr7:104930219..104933081-chr7:104934544..104936219,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 81 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60337781	chr7:104931512-104931513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Myxofibrosarcoma	20639860	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104910200-104935000	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:104910800-104934400	Weak transcription	Primary T cells from cord blood	blood
3	chr7:104910800-104946000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:104911400-104934800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:104912200-104939200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:104913200-104936200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:104917200-104944600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:104918200-104939000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:104919200-104939000	Weak transcription	Pancreas	Pancrea
10	chr7:104919800-104939000	Weak transcription	Thymus	Thymus
11	chr7:104919800-104939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:104920400-104939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:104920600-104937200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:104923200-104944200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:104924800-104939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:104924800-104939200	Weak transcription	Left Ventricle	heart
18	chr7:104925000-104936200	Weak transcription	HepG2	liver
19	chr7:104925000-104944200	Weak transcription	A549	lung
20	chr7:104926200-104934200	Weak transcription	K562	blood
21	chr7:104926400-104944600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:104927200-104934400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:104929000-104939200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:104929200-104931800	Enhancers	Dnd41	blood
25	chr7:104929400-104944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:104929600-104938800	Weak transcription	Fetal Thymus	thymus
27	chr7:104929800-104944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:104930400-104934400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:104930600-104934200	Weak transcription	Brain Angular Gyrus	brain
30	chr7:104930600-104934200	Weak transcription	Brain Substantia Nigra	brain
31	chr7:104930600-104934400	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:104930600-104936600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:104930800-104935800	Weak transcription	GM12878-XiMat	blood
34	chr7:104930800-104936200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:104930800-104937200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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