Variant report

Variant	esv1811638
Chromosome Location	chr7:118116178-118160303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
2	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
3	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
4	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
5	chr7:118126613..118129053-chr7:118300054..118302327,2	K562	blood:
6	chr7:118115547..118117412-chr7:118338324..118340087,2	K562	blood:

Extended variants
information (count: 346 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571747111	chr7:118117055-118117056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538690887	chr7:118117094-118117095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2402359	chr7:118117111-118117112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs569110092	chr7:118117123-118117124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561445893	chr7:118117126-118117127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530455625	chr7:118117153-118117154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536557082	chr7:118117208-118117209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34710935	chr7:118117242-118117243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141793269	chr7:118117265-118117266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147445546	chr7:118117272-118117273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534794696	chr7:118117289-118117290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540019070	chr7:118117297-118117298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558266941	chr7:118117314-118117315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576860337	chr7:118117335-118117336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546965619	chr7:118117373-118117374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560232577	chr7:118117390-118117391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192161198	chr7:118117396-118117397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139922977	chr7:118117432-118117433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184965311	chr7:118117441-118117442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189353850	chr7:118117578-118117579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181688660	chr7:118117593-118117594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184468394	chr7:118117667-118117668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528722610	chr7:118117707-118117708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143909219	chr7:118117759-118117760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189751212	chr7:118117784-118117785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72573300	chr7:118117887-118117888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5886903	chr7:118117888-118117889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs68145668	chr7:118117889-118117890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532567044	chr7:118117910-118117911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375026164	chr7:118117955-118117956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532642594	chr7:118117986-118117987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550756881	chr7:118117996-118117997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114920114	chr7:118118004-118118005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369509451	chr7:118118051-118118052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147281807	chr7:118118052-118118053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181340869	chr7:118118053-118118054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200500822	chr7:118118134-118118135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139859623	chr7:118118137-118118138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548109805	chr7:118118194-118118195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566415042	chr7:118118224-118118225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149815871	chr7:118118245-118118246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186170785	chr7:118118249-118118250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145818003	chr7:118118268-118118269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148573526	chr7:118118269-118118270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555949420	chr7:118118278-118118279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574395104	chr7:118118293-118118294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541823708	chr7:118118420-118118421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191068003	chr7:118118450-118118451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573566916	chr7:118118453-118118454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570974012	chr7:118118477-118118478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118117000-118120400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:118132600-118133000	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:118132600-118133800	Enhancers	Fetal Brain Male	brain
4	chr7:118142000-118142200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:118142200-118142400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:118142400-118142600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:118142400-118142800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:118150600-118151000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:118151000-118151400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr7:118151000-118151600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:118151000-118151600	Enhancers	Brain Hippocampus Middle	brain
12	chr7:118151600-118152600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:118156000-118158000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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