Variant report

Variant	esv1968318
Chromosome Location	chr7:120880894-120881634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120879517..120881082-chr7:120883141..120886021,2	K562	blood:
2	chr7:120879517..120881994-chr7:120882337..120885417,3	K562	blood:
3	chr7:120873011..120874844-chr7:120878339..120881386,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541838639	chr7:120880894-120880895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371786126	chr7:120880905-120880906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143813634	chr7:120881017-120881018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192924902	chr7:120881019-120881020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185103237	chr7:120881029-120881030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73438230	chr7:120881030-120881031	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs372844032	chr7:120881047-120881048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547625285	chr7:120881101-120881102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553651471	chr7:120881117-120881118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573310929	chr7:120881118-120881119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545593746	chr7:120881119-120881120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565178554	chr7:120881120-120881121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575330255	chr7:120881135-120881136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11977799	chr7:120881240-120881241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544327882	chr7:120881259-120881260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564593050	chr7:120881294-120881295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566428104	chr7:120881371-120881372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145776310	chr7:120881434-120881435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112896565	chr7:120881440-120881441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533575213	chr7:120881448-120881449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371197768	chr7:120881452-120881453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189984873	chr7:120881530-120881531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182575256	chr7:120881556-120881557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112428362	chr7:120881630-120881631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120844800-120881600	Weak transcription	HSMMtube	muscle
2	chr7:120863000-120884200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:120866400-120882600	Strong transcription	K562	blood
4	chr7:120868600-120887600	Weak transcription	Right Ventricle	heart
5	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
6	chr7:120873400-120888800	Weak transcription	Fetal Heart	heart
7	chr7:120874800-120884200	Weak transcription	Fetal Stomach	stomach
8	chr7:120876000-120884200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:120876000-120884200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:120876000-120884200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:120876000-120889000	Weak transcription	Fetal Lung	lung
12	chr7:120876200-120884200	Weak transcription	Pancreas	Pancrea
13	chr7:120876200-120884400	Weak transcription	NHDF-Ad	bronchial
14	chr7:120876400-120884200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:120876600-120884600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:120877000-120887600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:120877800-120884200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:120878000-120888600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:120878400-120884200	Weak transcription	Aorta	Aorta
20	chr7:120878400-120886200	Weak transcription	Fetal Kidney	kidney
21	chr7:120878600-120884000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:120878600-120884200	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:120878600-120884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:120879200-120881600	Weak transcription	HSMM	muscle
25	chr7:120879200-120883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:120879200-120884200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:120879200-120884600	Weak transcription	Ovary	ovary
28	chr7:120879200-120884800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:120879200-120886200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:120879200-120887400	Weak transcription	NHLF	lung
31	chr7:120880200-120887400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:120880400-120884200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:120880800-120881400	Weak transcription	Adipose Nuclei	Adipose
34	chr7:120880800-120883000	Weak transcription	Liver	Liver
35	chr7:120880800-120884200	Weak transcription	Left Ventricle	heart
36	chr7:120881400-120882000	Strong transcription	Adipose Nuclei	Adipose
37	chr7:120881600-120882200	Strong transcription	HSMMtube	muscle
38	chr7:120881600-120883600	Strong transcription	HSMM	muscle
39	chr7:120881600-120884200	Enhancers	Dnd41	blood

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