Variant report

Variant	esv3430180
Chromosome Location	chr7:106999716-107000219
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	chr7:106998806..107000334-chr7:107005300..107008235,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 81 )

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	rs545840650	chr7:106999724-106999725	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558382074	chr7:106999732-106999733	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577034201	chr7:106999772-106999773	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541184874	chr7:106999830-106999831	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111825861	chr7:106999874-106999875	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529924462	chr7:106999940-106999941	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75478631	chr7:106999952-106999953	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73415478	chr7:106999953-106999954	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532140954	chr7:106999964-106999965	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552213444	chr7:106999966-106999967	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559963389	chr7:107000005-107000006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117576500	chr7:107000019-107000020	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190486306	chr7:107000020-107000021	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10260092	chr7:107000032-107000033	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs537290469	chr7:107000051-107000052	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377368363	chr7:107000136-107000137	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550659358	chr7:107000138-107000139	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182697845	chr7:107000148-107000149	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187175501	chr7:107000159-107000160	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554229258	chr7:107000202-107000203	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553105495	chr7:107000210-107000211	Weak transcription ZNF genes & repeats Strong transcription	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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106946200-106999800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:106967800-106999800	Weak transcription	Fetal Heart	heart
3	chr7:106982400-106999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:106984000-106999800	Weak transcription	Aorta	Aorta
5	chr7:106984400-107006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:106986000-107013200	Weak transcription	Small Intestine	intestine
7	chr7:106989200-107018800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:106990200-107000400	Weak transcription	HMEC	breast
9	chr7:106990400-107000600	Weak transcription	Hela-S3	cervix
10	chr7:106990800-107000000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:106991200-107000000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:106991400-107000400	Weak transcription	Psoas Muscle	Psoas
13	chr7:106992800-106999800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:106993400-107000200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:106993600-106999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:106993800-107000200	Weak transcription	HepG2	liver
17	chr7:106994800-107000200	Weak transcription	Fetal Lung	lung
18	chr7:106996000-106999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:106996200-106999800	Weak transcription	Brain Anterior Caudate	brain
20	chr7:106996200-107000000	Weak transcription	Brain Angular Gyrus	brain
21	chr7:106996200-107000200	Weak transcription	HSMMtube	muscle
22	chr7:106996200-107000200	Weak transcription	NH-A	brain
23	chr7:106996400-106999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:106996400-106999800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:106996400-107000200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:106996400-107000200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:106996400-107000400	Weak transcription	NHDF-Ad	bronchial
28	chr7:106996400-107003000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:106996600-106999800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:106996600-107000000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:106996600-107000000	Weak transcription	HSMM	muscle
32	chr7:106996600-107000200	Weak transcription	Osteobl	bone
33	chr7:106997400-107000200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:106997400-107000600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:106997600-107000200	Weak transcription	Fetal Brain Male	brain
36	chr7:106997800-106999800	Weak transcription	Fetal Brain Female	brain
37	chr7:106997800-107000200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:106998000-106999800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:106998000-106999800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:106998000-107000000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:106998000-107000000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:106998200-106999800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr7:106998200-106999800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:106998200-107000400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:106998200-107003200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:106998400-107000200	Weak transcription	Fetal Kidney	kidney
47	chr7:106998400-107004200	Weak transcription	A549	lung
48	chr7:106998600-106999800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:106998600-106999800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:106998600-107000200	Weak transcription	H9 Cell Line	embryonic stem cell

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