Variant report

Variant	esv2117969
Chromosome Location	chr7:103092731-103096641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376205553	chr7:103094020-103094021	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs573485324	chr7:103094024-103094025	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540617282	chr7:103094026-103094027	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561983552	chr7:103094059-103094060	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529299859	chr7:103094066-103094067	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs151115970	chr7:103094074-103094075	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs60091747	chr7:103094081-103094082	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201104572	chr7:103094116-103094117	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113071387	chr7:103094126-103094127	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182723079	chr7:103094151-103094152	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150241324	chr7:103094197-103094198	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73175876	chr7:103094202-103094203	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537100837	chr7:103094208-103094209	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs10230157	chr7:103094239-103094240	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567103793	chr7:103094243-103094244	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187358738	chr7:103094259-103094260	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555803312	chr7:103094269-103094270	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577350714	chr7:103094282-103094283	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192259201	chr7:103094350-103094351	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530052366	chr7:103094352-103094353	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557974676	chr7:103094372-103094373	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs34827293	chr7:103094380-103094381	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184823730	chr7:103094381-103094382	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs142034067	chr7:103094397-103094398	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573926555	chr7:103094407-103094408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10480646	chr7:103094408-103094409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189697605	chr7:103094425-103094426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202024413	chr7:103094502-103094503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552580885	chr7:103094512-103094513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551599623	chr7:103094513-103094514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560047417	chr7:103094525-103094526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199849206	chr7:103094566-103094567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577500937	chr7:103094574-103094575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527482957	chr7:103094583-103094584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367588063	chr7:103094586-103094587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138610515	chr7:103094590-103094591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567567060	chr7:103094591-103094592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373454409	chr7:103094615-103094616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376357375	chr7:103094656-103094657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192613281	chr7:103094660-103094661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11762438	chr7:103094674-103094675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190464159	chr7:103094684-103094685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553462335	chr7:103094691-103094692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181924100	chr7:103094694-103094695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186577996	chr7:103094739-103094740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148054212	chr7:103094740-103094741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574310630	chr7:103094768-103094769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544595895	chr7:103094777-103094778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189020577	chr7:103094812-103094813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578075809	chr7:103094813-103094814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Prostate cancer	16461572	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
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103094000-103094400	Bivalent/Poised TSS	K562	blood
2	chr7:103094200-103094400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:103094400-103097800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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