Variant report

Variant	nsv524344
Chromosome Location	chr7:103375437-103379897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103373703..103377683-chr7:103378422..103380704,3	K562	blood:
2	chr7:103374430..103376979-chr7:103378353..103381015,4	K562	blood:
3	chr7:103374430..103376979-chr7:103378353..103381015,4	K562	blood:
4	chr7:103373703..103377683-chr7:103378422..103380704,3	K562	blood:

Extended variants
information (count: 222 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:222 , 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	rs10487167	chr7:103375437-103375438	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578061227	chr7:103375479-103375480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550775356	chr7:103375509-103375510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377513033	chr7:103375515-103375516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17155053	chr7:103375537-103375538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545045214	chr7:103375541-103375542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569538075	chr7:103375577-103375578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144256602	chr7:103375592-103375593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373405427	chr7:103375637-103375638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188805597	chr7:103375732-103375733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558207742	chr7:103375735-103375736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576501914	chr7:103375770-103375771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376389167	chr7:103375789-103375790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148707138	chr7:103375792-103375793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141578774	chr7:103375825-103375826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117660949	chr7:103375835-103375836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7797966	chr7:103375846-103375847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561369390	chr7:103375860-103375861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576484239	chr7:103375867-103375868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7798224	chr7:103375873-103375874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541768	chr7:103375920-103375921	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs139713852	chr7:103375930-103375931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113704406	chr7:103375931-103375932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191059889	chr7:103375993-103375994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374355790	chr7:103376007-103376008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144438294	chr7:103376053-103376054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116493055	chr7:103376079-103376080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146115230	chr7:103376102-103376103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536668955	chr7:103376147-103376148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17155063	chr7:103376166-103376167	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377166431	chr7:103376179-103376180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372744728	chr7:103376205-103376206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570222570	chr7:103376235-103376236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs620243	chr7:103376272-103376273	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115454772	chr7:103376281-103376282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139248848	chr7:103376313-103376314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536982593	chr7:103376315-103376316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144897713	chr7:103376328-103376329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576778276	chr7:103376347-103376348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550269592	chr7:103376364-103376365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558948102	chr7:103376389-103376390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183316657	chr7:103376412-103376413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541154467	chr7:103376413-103376414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559532542	chr7:103376426-103376427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529826263	chr7:103376450-103376451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186485762	chr7:103376508-103376509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs621223	chr7:103376520-103376521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536138152	chr7:103376579-103376580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551757976	chr7:103376581-103376582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570105145	chr7:103376733-103376734	Weak transcription Enhancers	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103374600-103376600	Enhancers	HUVEC	blood vessel
2	chr7:103375000-103376600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:103375000-103376800	Enhancers	Hela-S3	cervix
4	chr7:103375200-103391000	Weak transcription	HepG2	liver
5	chr7:103375600-103376400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:103375600-103376400	Enhancers	NH-A	brain
7	chr7:103375600-103376600	Enhancers	HMEC	breast
8	chr7:103375600-103377000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:103375800-103376200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:103375800-103376600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:103375800-103376600	Enhancers	NHEK	skin
12	chr7:103376200-103376600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:103376400-103377600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:103377000-103377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:103377400-103377800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:103377600-103377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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