Variant report

Variant	esv3416207
Chromosome Location	chr7:104954531-104955061
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	chr7:104945324..104947368-chr7:104952699..104954590,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554007251	chr7:104954544-104954545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370415733	chr7:104954635-104954636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193291791	chr7:104954664-104954665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71562649	chr7:104954667-104954668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111931203	chr7:104954689-104954690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531747230	chr7:104954700-104954701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545297753	chr7:104954708-104954709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565567573	chr7:104954715-104954716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185583192	chr7:104954773-104954774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190045427	chr7:104954799-104954800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556941290	chr7:104954802-104954803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181797592	chr7:104954849-104954850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185566986	chr7:104954868-104954869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139388294	chr7:104954918-104954919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374615274	chr7:104954965-104954966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75616513	chr7:104954983-104954984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528973354	chr7:104954992-104954993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547414298	chr7:104954994-104954995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540157603	chr7:104955006-104955007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28522390	chr7:104955043-104955044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533966659	chr7:104955058-104955059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:104939600-104966200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:104945400-104972600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:104945800-104955400	Weak transcription	Liver	Liver
5	chr7:104945800-104961200	Weak transcription	Ovary	ovary
6	chr7:104946200-104957000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:104948600-104988000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:104950600-104954800	Weak transcription	Right Atrium	heart
9	chr7:104950600-104955200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:104950600-104955600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:104950600-104955800	Weak transcription	Adipose Nuclei	Adipose
12	chr7:104950600-104956600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:104950600-104957200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:104950600-104959200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:104950600-104962800	Weak transcription	Pancreas	Pancrea
16	chr7:104950600-104965600	Weak transcription	Primary B cells from cord blood	blood
17	chr7:104950600-104972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:104950800-104955400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:104950800-104955600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:104950800-104955600	Weak transcription	Osteobl	bone
21	chr7:104950800-104957200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:104950800-104957200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:104950800-104957200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:104950800-104962400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:104950800-104963600	Weak transcription	Primary T cells from cord blood	blood
26	chr7:104950800-104965400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:104950800-104967800	Weak transcription	Gastric	stomach
28	chr7:104951000-104962600	Weak transcription	Left Ventricle	heart
29	chr7:104951200-104958200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:104951600-104961000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:104952000-104958600	Weak transcription	Lung	lung
32	chr7:104952200-104959400	Weak transcription	GM12878-XiMat	blood
33	chr7:104952200-104966200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:104952800-104954600	Weak transcription	Dnd41	blood
35	chr7:104954000-104954800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:104954000-104954800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:104954000-104954800	Enhancers	Esophagus	oesophagus
38	chr7:104954200-104954800	Enhancers	Fetal Lung	lung
39	chr7:104954400-104954800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:104954400-104954800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr7:104954400-104954800	Enhancers	Stomach Mucosa	stomach
42	chr7:104954400-104954800	Enhancers	NHEK	skin
43	chr7:104954600-104956200	Enhancers	Dnd41	blood
44	chr7:104954800-104957000	Weak transcription	Stomach Mucosa	stomach
45	chr7:104954800-104957200	Weak transcription	Fetal Lung	lung
46	chr7:104954800-104961200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:104954800-104971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:104954800-104972400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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