Variant report

Variant	esv3512113
Chromosome Location	chr7:104992256-104992454
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	chr7:104985604..104988009-chr7:104988661..104992551,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201678445	chr7:104992264-104992265	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs371837953	chr7:104992265-104992266	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562478124	chr7:104992266-104992267	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190522273	chr7:104992285-104992286	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560994791	chr7:104992297-104992298	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569423704	chr7:104992343-104992344	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs371637829	chr7:104992387-104992388	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376580210	chr7:104992388-104992389	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368382336	chr7:104992389-104992390	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs371848836	chr7:104992390-104992391	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs537057668	chr7:104992433-104992434	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104962800-104992600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:104973200-104998800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:104983000-104994000	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:104983200-104992400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:104983800-104992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:104984000-104999200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:104984600-104996800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:104984800-104992400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:104985600-104992400	Weak transcription	Small Intestine	intestine
10	chr7:104986600-104992600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:104986600-104992600	Weak transcription	Brain Angular Gyrus	brain
12	chr7:104986800-104992400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:104986800-104992600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:104987000-104992600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:104987200-104992600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:104987200-104992600	Weak transcription	Pancreas	Pancrea
17	chr7:104987400-104992600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:104987400-104994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:104987600-104992600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:104987800-104992600	Weak transcription	Left Ventricle	heart
21	chr7:104988000-104992600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:104988000-104993800	Weak transcription	Right Atrium	heart
23	chr7:104988200-104992800	Weak transcription	Fetal Heart	heart
24	chr7:104989800-104992400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:104990000-104992400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr7:104990000-104992400	Enhancers	Dnd41	blood
27	chr7:104990000-104992400	Weak transcription	NH-A	brain
28	chr7:104990000-104992600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:104990000-104997000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:104990200-104992400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:104990200-104992600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:104990200-104995000	Enhancers	Fetal Muscle Trunk	muscle
33	chr7:104990400-104995400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:104990600-104992600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:104990600-104995200	Enhancers	Primary hematopoietic stem cells	blood
36	chr7:104990800-104996400	Enhancers	Fetal Muscle Leg	muscle
37	chr7:104991000-104992400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:104991000-104993400	Enhancers	Psoas Muscle	Psoas
39	chr7:104991200-104992400	Enhancers	NHDF-Ad	bronchial
40	chr7:104991200-104992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:104991200-104992800	Enhancers	Fetal Brain Male	brain
42	chr7:104991200-104993400	Enhancers	Fetal Stomach	stomach
43	chr7:104991200-104994000	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:104991200-104995400	Enhancers	Stomach Mucosa	stomach
45	chr7:104991200-104996000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:104991200-104996200	Enhancers	Fetal Thymus	thymus
47	chr7:104991400-104992400	Enhancers	GM12878-XiMat	blood
48	chr7:104991400-104992600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:104991400-104992600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:104991400-104992600	Enhancers	Brain Cingulate Gyrus	brain

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