Variant report

Variant	nsv970420
Chromosome Location	chr7:117172699-117173820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117173270..117176194-chr7:117177984..117179733,2	MCF-7	breast:
2	chr7:117171466..117173089-chr7:117174919..117176705,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34056920	chr7:117172703-117172704	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546477833	chr7:117172728-117172729	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2518881	chr7:117172731-117172732	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4148697	chr7:117172783-117172784	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558251413	chr7:117172817-117172818	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35141610	chr7:117172878-117172879	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182129231	chr7:117172893-117172894	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35028662	chr7:117172894-117172895	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35348526	chr7:117172895-117172896	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529386688	chr7:117172961-117172962	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111828708	chr7:117172992-117172993	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559510303	chr7:117173006-117173007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35722251	chr7:117173056-117173057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4148698	chr7:117173114-117173115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569582225	chr7:117173122-117173123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186837172	chr7:117173133-117173134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548562179	chr7:117173225-117173226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs213943	chr7:117173230-117173231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35546286	chr7:117173250-117173251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534720577	chr7:117173257-117173258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34844161	chr7:117173304-117173305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182693624	chr7:117173316-117173317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539618076	chr7:117173344-117173345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558517644	chr7:117173424-117173425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372488173	chr7:117173437-117173438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6977764	chr7:117173455-117173456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185547215	chr7:117173510-117173511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190010813	chr7:117173523-117173524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573903942	chr7:117173545-117173546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34334041	chr7:117173552-117173553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34089570	chr7:117173557-117173558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs140852975	chr7:117173632-117173633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533172020	chr7:117173664-117173665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182285820	chr7:117173699-117173700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375675786	chr7:117173716-117173717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62469437	chr7:117173759-117173760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563286809	chr7:117173808-117173809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117154400-117174400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:117164400-117177600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:117170800-117173000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr7:117171600-117177400	Weak transcription	Colonic Mucosa	Colon
5	chr7:117172000-117174800	Weak transcription	Dnd41	blood
6	chr7:117172400-117172800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:117172400-117173000	Enhancers	Fetal Intestine Large	intestine
8	chr7:117172600-117173000	Genic enhancers	Pancreas	Pancrea
9	chr7:117172600-117173400	Enhancers	Gastric	stomach
10	chr7:117172800-117173000	Enhancers	Fetal Intestine Small	intestine
11	chr7:117172800-117173000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr7:117172800-117173000	Enhancers	Stomach Mucosa	stomach
13	chr7:117172800-117173400	Enhancers	A549	lung
14	chr7:117173000-117174000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:117173000-117174400	Weak transcription	Fetal Intestine Large	intestine
16	chr7:117173000-117174400	Weak transcription	Fetal Intestine Small	intestine
17	chr7:117173000-117174400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:117173000-117208000	Weak transcription	Pancreas	Pancrea
19	chr7:117173400-117178800	Weak transcription	Gastric	stomach

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