Variant report

Variant	esv2586246
Chromosome Location	chr7:104905736-104905740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104905394..104907568-chr7:104922706..104925372,2	MCF-7	breast:
2	chr7:104904327..104906020-chr7:104907361..104909325,2	K562	blood:
3	chr7:104903407..104906399-chr7:105027736..105030512,2	MCF-7	breast:
4	chr7:104893338..104895687-chr7:104903857..104906194,3	K562	blood:

Variant related genes	Relation type
ENSG00000135250	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 80 )

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	rs572925083	chr7:104905736-104905737	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:104891600-104907800	Weak transcription	Aorta	Aorta
6	chr7:104892200-104906600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:104896400-104909000	Weak transcription	Pancreas	Pancrea
8	chr7:104897600-104906800	Weak transcription	Right Ventricle	heart
9	chr7:104897600-104907400	Weak transcription	Right Atrium	heart
10	chr7:104898000-104907200	Weak transcription	Fetal Kidney	kidney
11	chr7:104898200-104907200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:104898600-104905800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:104898600-104909000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:104898600-104909000	Weak transcription	Small Intestine	intestine
15	chr7:104898800-104906000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:104898800-104906400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:104898800-104907800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:104898800-104907800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:104899000-104905800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:104899000-104906800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:104899400-104907000	Weak transcription	Primary B cells from cord blood	blood
22	chr7:104902200-104905800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:104902200-104906400	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr7:104902400-104906800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:104902600-104905800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:104902600-104906400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:104902600-104907000	Weak transcription	Adipose Nuclei	Adipose
28	chr7:104902600-104907000	Weak transcription	HSMM	muscle
29	chr7:104902600-104907200	Weak transcription	Fetal Heart	heart
30	chr7:104902600-104907200	Weak transcription	NHLF	lung
31	chr7:104902600-104907400	Weak transcription	Hela-S3	cervix
32	chr7:104902600-104907600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:104902600-104907600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:104902600-104907600	Weak transcription	NHDF-Ad	bronchial
35	chr7:104902600-104907800	Weak transcription	Liver	Liver
36	chr7:104902600-104907800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:104902600-104907800	Weak transcription	Osteobl	bone
38	chr7:104902600-104908000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:104902800-104907200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:104902800-104907200	Weak transcription	HSMMtube	muscle
41	chr7:104902800-104908400	Weak transcription	A549	lung
42	chr7:104903000-104906800	Weak transcription	Primary T cells from cord blood	blood
43	chr7:104903000-104907000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:104903000-104907200	Weak transcription	Fetal Brain Female	brain
45	chr7:104903000-104907200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:104903000-104907800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:104903000-104908600	Weak transcription	Left Ventricle	heart
48	chr7:104903200-104906600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:104903200-104907000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:104903200-104907800	Weak transcription	Stomach Mucosa	stomach

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