Variant report

Variant	esv3429432
Chromosome Location	chr7:79447566-79449864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367628578	chr7:79447603-79447604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554269415	chr7:79447641-79447642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568694114	chr7:79447677-79447678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370310760	chr7:79447679-79447680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143660471	chr7:79447680-79447681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577493959	chr7:79447733-79447734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546454287	chr7:79447763-79447764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553493945	chr7:79447779-79447780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543891081	chr7:79447823-79447824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564404960	chr7:79447925-79447926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573423573	chr7:79447955-79447956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78622245	chr7:79447965-79447966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185463752	chr7:79447992-79447993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561953313	chr7:79448021-79448022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201536930	chr7:79448053-79448054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67310846	chr7:79448054-79448055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540046281	chr7:79448123-79448124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191591889	chr7:79448149-79448150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563633111	chr7:79448157-79448158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532162743	chr7:79448168-79448169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375496407	chr7:79448204-79448205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141449152	chr7:79448220-79448221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368094078	chr7:79448228-79448229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368791784	chr7:79448244-79448245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1293109	chr7:79448275-79448276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529110138	chr7:79448312-79448313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548136062	chr7:79448313-79448314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567988017	chr7:79448320-79448321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183049657	chr7:79448380-79448381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375191053	chr7:79448448-79448449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367930822	chr7:79448494-79448495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1293110	chr7:79448550-79448551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10429125	chr7:79448570-79448571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571203771	chr7:79448599-79448600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540036274	chr7:79448615-79448616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553608352	chr7:79448620-79448621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1293111	chr7:79448670-79448671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535597748	chr7:79448671-79448672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555856301	chr7:79448695-79448696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145090537	chr7:79448792-79448793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112815862	chr7:79448808-79448809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563429717	chr7:79448836-79448837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576726407	chr7:79448869-79448870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545551718	chr7:79448882-79448883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188485038	chr7:79448890-79448891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55698421	chr7:79448901-79448902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138979659	chr7:79448918-79448919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547958440	chr7:79448943-79448944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561857872	chr7:79448958-79448959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192952230	chr7:79448961-79448962	Weak transcription	n/a	n/a	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79445800-79449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:79447400-79449000	Weak transcription	Fetal Lung	lung
3	chr7:79448400-79449600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:79449000-79449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:79449000-79449600	Enhancers	Fetal Lung	lung
6	chr7:79449200-79449400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:79449200-79449400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:79449400-79449600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:79449400-79449600	Enhancers	Fetal Brain Male	brain
10	chr7:79449400-79449600	Active TSS	NHLF	lung
11	chr7:79449400-79449600	Enhancers	Osteobl	bone
12	chr7:79449400-79449800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:79449400-79449800	Enhancers	NH-A	brain
14	chr7:79449400-79450000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:79449400-79450000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:79449400-79450200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:79449600-79449800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:79449600-79449800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:79449600-79449800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:79449600-79449800	Active TSS	Brain Anterior Caudate	brain
21	chr7:79449600-79449800	Flanking Active TSS	Fetal Lung	lung
22	chr7:79449600-79449800	Flanking Active TSS	NHLF	lung
23	chr7:79449600-79450000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:79449600-79450000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:79449600-79450000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:79449600-79450000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr7:79449600-79450000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:79449600-79450000	Active TSS	Brain Germinal Matrix	brain
29	chr7:79449600-79450000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr7:79449600-79450000	Active TSS	Brain Substantia Nigra	brain
31	chr7:79449600-79450000	Active TSS	Fetal Brain Female	brain
32	chr7:79449600-79450000	Flanking Active TSS	Osteobl	bone
33	chr7:79449600-79450200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr7:79449600-79452200	Weak transcription	Fetal Brain Male	brain
35	chr7:79449800-79450000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:79449800-79450000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:79449800-79450000	Enhancers	Brain Angular Gyrus	brain
38	chr7:79449800-79450000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr7:79449800-79450000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:79449800-79450000	Active TSS	Fetal Lung	lung
41	chr7:79449800-79450000	Enhancers	Hela-S3	cervix
42	chr7:79449800-79457400	Weak transcription	NHLF	lung

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