Variant report

Variant	nsv887711
Chromosome Location	chr7:14619026-14671325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:14638736..14641616-chr7:14642716..14644563,2	K562	blood:
2	chr7:14657855..14660530-chr7:14668724..14671460,2	K562	blood:
3	chr7:14657855..14660530-chr7:14668724..14671460,2	K562	blood:
4	chr7:14638736..14641616-chr7:14642716..14644563,2	K562	blood:

Extended variants
information (count: 1039 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17168277	chr7:14619026-14619027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75016215	chr7:14619030-14619031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187887337	chr7:14619091-14619092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73289506	chr7:14619096-14619097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551790424	chr7:14619098-14619099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114706979	chr7:14619124-14619125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138729283	chr7:14619156-14619157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190978572	chr7:14619222-14619223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568108767	chr7:14619229-14619230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183195696	chr7:14619241-14619242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553504808	chr7:14619266-14619267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148950905	chr7:14619272-14619273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539327147	chr7:14619326-14619327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559036270	chr7:14619327-14619328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562050148	chr7:14619363-14619364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374087889	chr7:14619376-14619377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547435994	chr7:14619382-14619383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188083759	chr7:14619383-14619384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73680435	chr7:14619398-14619399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540081533	chr7:14619414-14619415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192037076	chr7:14619449-14619450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571129472	chr7:14619477-14619478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532311762	chr7:14619490-14619491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184589643	chr7:14619507-14619508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562396955	chr7:14619517-14619518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143724551	chr7:14619540-14619541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374622223	chr7:14619561-14619562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148137831	chr7:14619580-14619581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142914241	chr7:14619586-14619587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146124289	chr7:14619615-14619616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139001386	chr7:14619616-14619617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567062779	chr7:14619655-14619656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187719688	chr7:14619675-14619676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559300222	chr7:14619680-14619681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530729045	chr7:14619743-14619744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142263989	chr7:14619744-14619745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6461109	chr7:14619787-14619788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574869900	chr7:14619807-14619808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150505848	chr7:14619821-14619822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553730068	chr7:14619822-14619823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192526999	chr7:14619868-14619869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73680447	chr7:14619873-14619874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76150120	chr7:14619878-14619879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149691169	chr7:14619882-14619883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531475228	chr7:14619887-14619888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73680448	chr7:14619890-14619891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549980465	chr7:14619906-14619907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527436829	chr7:14619913-14619914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185101505	chr7:14619937-14619938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73680449	chr7:14619947-14619948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14603800-14624200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:14604200-14624000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:14610000-14621200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:14616200-14622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:14619200-14619600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr7:14619600-14622200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:14619800-14620000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:14620000-14624000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:14620800-14621800	Enhancers	Liver	Liver
10	chr7:14621800-14622200	Flanking Active TSS	Liver	Liver
11	chr7:14621800-14622400	Enhancers	Stomach Mucosa	stomach
12	chr7:14622200-14622400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:14622200-14623800	Enhancers	Liver	Liver
14	chr7:14622400-14625000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:14622600-14623600	Enhancers	Pancreas	Pancrea
16	chr7:14623400-14624400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:14623800-14624000	Weak transcription	Liver	Liver
18	chr7:14624000-14624200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr7:14624000-14626800	ZNF genes & repeats	Liver	Liver
20	chr7:14624800-14626000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:14625000-14625200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
22	chr7:14625200-14625400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr7:14625800-14626000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr7:14635600-14636600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:14635800-14636000	Enhancers	NHDF-Ad	bronchial
26	chr7:14635800-14636600	Enhancers	HMEC	breast
27	chr7:14635800-14636800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:14635800-14636800	Enhancers	Osteobl	bone
29	chr7:14635800-14640600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:14636000-14636400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:14636000-14636400	Enhancers	NH-A	brain
32	chr7:14636000-14636600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:14636000-14638800	Weak transcription	NHDF-Ad	bronchial
34	chr7:14636200-14636600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:14636200-14636800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:14636600-14638400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:14636600-14644200	Weak transcription	HMEC	breast
38	chr7:14636800-14644400	Weak transcription	Osteobl	bone
39	chr7:14638000-14645800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:14638400-14638600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:14638400-14639400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:14638400-14640000	Enhancers	Fetal Heart	heart
43	chr7:14638600-14639400	Enhancers	Fetal Lung	lung
44	chr7:14638800-14639000	Active TSS	NHDF-Ad	bronchial
45	chr7:14638800-14639200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:14639400-14642200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:14640000-14644000	Weak transcription	Fetal Heart	heart
48	chr7:14640600-14641600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:14641600-14648800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:14642200-14644800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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