Variant report

Variant	esv1800645
Chromosome Location	chr7:141007010-141012015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:141009489..141011146-chr7:141114978..141116605,2	K562	blood:
2	chr7:141010882..141013752-chr7:141015205..141017324,2	K562	blood:
3	chr17:56878579..56879159-chr7:141006738..141007601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204990	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2057915	chr7:141007010-141007011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573532915	chr7:141007037-141007038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200999501	chr7:141007042-141007043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145789080	chr7:141007086-141007087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73737745	chr7:141007089-141007090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6464445	chr7:141007115-141007116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183563906	chr7:141007128-141007129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577862385	chr7:141007130-141007131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115492942	chr7:141007141-141007142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541793872	chr7:141007211-141007212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560568554	chr7:141007212-141007213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527762246	chr7:141007231-141007232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552685217	chr7:141007233-141007234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545247976	chr7:141007282-141007283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571344331	chr7:141007306-141007307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370354473	chr7:141007337-141007338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559813818	chr7:141007339-141007340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73737746	chr7:141007345-141007346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374777457	chr7:141007388-141007389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77689585	chr7:141007418-141007419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536563646	chr7:141007448-141007449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554591816	chr7:141007492-141007493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566493604	chr7:141007541-141007542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552784528	chr7:141007563-141007564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138372438	chr7:141007570-141007571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142964211	chr7:141007592-141007593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558661963	chr7:141007667-141007668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7458320	chr7:141007717-141007718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs544354445	chr7:141007771-141007772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189601923	chr7:141007824-141007825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146143422	chr7:141007826-141007827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543173360	chr7:141007843-141007844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574758456	chr7:141007858-141007859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181247866	chr7:141007930-141007931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186756563	chr7:141007959-141007960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527724847	chr7:141008003-141008004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545886404	chr7:141008019-141008020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564556186	chr7:141008020-141008021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531862177	chr7:141008021-141008022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138956879	chr7:141008033-141008034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149452662	chr7:141008037-141008038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17489724	chr7:141008038-141008039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs76689628	chr7:141008115-141008116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571768523	chr7:141008116-141008117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566337085	chr7:141008126-141008127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530005485	chr7:141008161-141008162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111912268	chr7:141008169-141008170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191194165	chr7:141008177-141008178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181470210	chr7:141008215-141008216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143897189	chr7:141008359-141008360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Low-grade astrocytoma	19016743	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140994400-141018000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:141004600-141014200	Weak transcription	Right Atrium	heart
3	chr7:141005000-141013000	Weak transcription	Right Ventricle	heart
4	chr7:141006200-141008200	Weak transcription	Left Ventricle	heart
5	chr7:141006200-141012600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:141008200-141008800	Enhancers	Left Ventricle	heart
7	chr7:141008800-141011600	Weak transcription	Left Ventricle	heart
8	chr7:141011600-141012000	Enhancers	Left Ventricle	heart
9	chr7:141012000-141013000	Weak transcription	Left Ventricle	heart
10	chr7:141012000-141013400	Enhancers	Skeletal Muscle Male	skeletal muscle

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