Variant report

Variant	nsv981435
Chromosome Location	chr7:16639536-16640036
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	chr7:16639597..16641925-chr7:16642837..16645779,2	K562	blood:
2	chr7:16637135..16639582-chr7:16641679..16644005,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528070165	chr7:16639553-16639554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113616294	chr7:16639576-16639577	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190576346	chr7:16639587-16639588	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7156	chr7:16639615-16639616	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73078965	chr7:16639624-16639625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77107280	chr7:16639645-16639646	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539973389	chr7:16639648-16639649	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551991151	chr7:16639695-16639696	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568017226	chr7:16639712-16639713	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17169555	chr7:16639724-16639725	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368464398	chr7:16639725-16639726	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566918387	chr7:16639738-16639739	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534192927	chr7:16639790-16639791	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555685949	chr7:16639807-16639808	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183298234	chr7:16639832-16639833	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189092041	chr7:16639859-16639860	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556512599	chr7:16639905-16639906	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371854272	chr7:16639922-16639923	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548145998	chr7:16639932-16639933	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375016590	chr7:16639965-16639966	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553364489	chr7:16639984-16639985	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146769713	chr7:16639985-16639986	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545537647	chr7:16640018-16640019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16624000-16645600	Weak transcription	Gastric	stomach
2	chr7:16627800-16640200	Weak transcription	Fetal Brain Female	brain
3	chr7:16627800-16640200	Weak transcription	Right Ventricle	heart
4	chr7:16627800-16654200	Weak transcription	Brain Angular Gyrus	brain
5	chr7:16629600-16642400	Weak transcription	Fetal Brain Male	brain
6	chr7:16630400-16640600	Weak transcription	A549	lung
7	chr7:16630400-16643000	Weak transcription	HUVEC	blood vessel
8	chr7:16630600-16640800	Weak transcription	Fetal Heart	heart
9	chr7:16630800-16643000	Weak transcription	Thymus	Thymus
10	chr7:16632200-16640200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:16632600-16643200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:16634200-16640200	Weak transcription	NHLF	lung
13	chr7:16634200-16642400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:16634200-16649600	Weak transcription	Hela-S3	cervix
15	chr7:16634400-16639600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:16634400-16640200	Weak transcription	Pancreas	Pancrea
17	chr7:16634600-16639600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:16635600-16654800	Weak transcription	Spleen	Spleen
19	chr7:16636200-16639600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:16636200-16639600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:16636200-16649400	Weak transcription	Small Intestine	intestine
22	chr7:16636400-16640200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:16636400-16642200	Weak transcription	Esophagus	oesophagus
24	chr7:16636400-16682600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:16636600-16639600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:16636600-16640000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:16636600-16640200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:16636600-16642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:16636600-16648800	Weak transcription	HMEC	breast
30	chr7:16636800-16640200	Weak transcription	NHDF-Ad	bronchial
31	chr7:16636800-16641800	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:16637000-16640000	Weak transcription	Primary B cells from cord blood	blood
33	chr7:16637200-16643200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:16637400-16639600	Weak transcription	Brain Substantia Nigra	brain
35	chr7:16637400-16640200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:16637400-16668400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:16637600-16640400	Enhancers	Stomach Mucosa	stomach
38	chr7:16637600-16644800	Strong transcription	Dnd41	blood
39	chr7:16637600-16644800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr7:16637800-16639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:16637800-16639600	Weak transcription	Brain Anterior Caudate	brain
42	chr7:16637800-16640000	Weak transcription	HepG2	liver
43	chr7:16637800-16644600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:16637800-16644600	Strong transcription	Primary T cells from cord blood	blood
45	chr7:16637800-16644600	Strong transcription	Liver	Liver
46	chr7:16637800-16644600	Strong transcription	HSMM	muscle
47	chr7:16637800-16644800	Strong transcription	Adipose Nuclei	Adipose
48	chr7:16637800-16644800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr7:16637800-16644800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr7:16637800-16649800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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