Variant report

Variant	esv2761352
Chromosome Location	chr7:102843462-102869010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531954943	chr7:102850617-102850618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185782967	chr7:102850618-102850619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190309626	chr7:102850634-102850635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562030792	chr7:102850657-102850658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536326549	chr7:102850684-102850685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527816032	chr7:102850697-102850698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568779548	chr7:102850716-102850717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17136078	chr7:102850726-102850727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs567840520	chr7:102850739-102850740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538066823	chr7:102850786-102850787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556846796	chr7:102850812-102850813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578254782	chr7:102850821-102850822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538998623	chr7:102850911-102850912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554191102	chr7:102850916-102850917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62481612	chr7:102850931-102850932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs181038848	chr7:102850949-102850950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561265552	chr7:102850967-102850968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17136079	chr7:102850993-102850994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs11560368	chr7:102850994-102850995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564802859	chr7:102851066-102851067	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs202062307	chr7:102851077-102851078	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs369789520	chr7:102851094-102851095	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145022643	chr7:102851112-102851113	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs147974399	chr7:102851114-102851115	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146108365	chr7:102851116-102851117	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs368364671	chr7:102851118-102851119	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs57525870	chr7:102851119-102851120	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs57341369	chr7:102851136-102851137	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs202042584	chr7:102851161-102851162	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201697098	chr7:102851163-102851164	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530741377	chr7:102851164-102851165	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577686035	chr7:102851177-102851178	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545186447	chr7:102851219-102851220	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374151172	chr7:102851229-102851230	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547502993	chr7:102851234-102851235	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569652794	chr7:102851241-102851242	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538404647	chr7:102851265-102851266	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550411713	chr7:102851273-102851274	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139313350	chr7:102851285-102851286	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112071667	chr7:102851288-102851289	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112979910	chr7:102851297-102851298	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539316920	chr7:102851321-102851322	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554550975	chr7:102851323-102851324	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572395519	chr7:102851332-102851333	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62481613	chr7:102851384-102851385	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs555020818	chr7:102851431-102851432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576476330	chr7:102851461-102851462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543546478	chr7:102851463-102851464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564717298	chr7:102851469-102851470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11560369	chr7:102851471-102851472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102850600-102850800	Weak transcription	Fetal Lung	lung
2	chr7:102850800-102851000	Enhancers	Fetal Lung	lung
3	chr7:102851000-102851400	Flanking Active TSS	Fetal Lung	lung
4	chr7:102851200-102851800	Enhancers	K562	blood
5	chr7:102863800-102864000	Enhancers	GM12878-XiMat	blood
6	chr7:102864000-102866400	Weak transcription	GM12878-XiMat	blood
7	chr7:102865800-102867200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:102866400-102867000	Enhancers	GM12878-XiMat	blood
9	chr7:102867200-102871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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