Variant report

Variant	nsv516893
Chromosome Location	chr7:18601365-18614519
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	chr7:18391676..18392589-chr7:18610144..18611124,3	MCF-7	breast:

Extended variants
information (count: 508 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs801763	chr7:18601365-18601366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376125547	chr7:18601380-18601381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560733639	chr7:18601384-18601385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577636056	chr7:18601397-18601398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558268495	chr7:18601438-18601439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546374375	chr7:18601545-18601546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138840491	chr7:18601598-18601599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540345875	chr7:18601640-18601641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561725584	chr7:18601670-18601671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529105263	chr7:18601686-18601687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531824432	chr7:18601712-18601713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544442067	chr7:18601727-18601728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562536293	chr7:18601741-18601742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533293832	chr7:18601760-18601761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551367880	chr7:18601764-18601765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570848994	chr7:18601774-18601775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545820240	chr7:18601782-18601783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559404540	chr7:18601821-18601822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528426586	chr7:18601823-18601824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546688929	chr7:18601826-18601827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570401673	chr7:18601844-18601845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568260087	chr7:18601886-18601887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10235067	chr7:18601905-18601906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142049304	chr7:18601944-18601945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186473703	chr7:18601998-18601999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146291496	chr7:18602000-18602001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558132611	chr7:18602002-18602003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572886990	chr7:18602070-18602071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533723891	chr7:18602213-18602214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555400347	chr7:18602232-18602233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6959575	chr7:18602236-18602237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141854606	chr7:18602279-18602280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367767181	chr7:18602326-18602327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562734898	chr7:18602342-18602343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577738351	chr7:18602431-18602432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545295102	chr7:18602436-18602437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559965966	chr7:18602437-18602438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559701415	chr7:18602451-18602452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573016259	chr7:18602498-18602499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73309568	chr7:18602522-18602523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528602412	chr7:18602553-18602554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372474595	chr7:18602554-18602555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202161922	chr7:18602559-18602560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546627489	chr7:18602565-18602566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73062328	chr7:18602601-18602602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547791332	chr7:18602626-18602627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529373850	chr7:18602723-18602724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150688783	chr7:18602728-18602729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190906340	chr7:18602809-18602810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17139319	chr7:18602832-18602833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
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
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18581600-18620200	Weak transcription	HSMMtube	muscle
2	chr7:18593000-18606400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:18593600-18605000	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:18593600-18605800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:18596800-18612600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:18598200-18610200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:18598600-18613000	Weak transcription	Spleen	Spleen
8	chr7:18599000-18606200	Weak transcription	NHEK	skin
9	chr7:18599000-18606400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:18599000-18613200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:18599000-18613200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:18599400-18606400	Weak transcription	Aorta	Aorta
13	chr7:18600200-18601600	Enhancers	Fetal Heart	heart
14	chr7:18600400-18613200	Weak transcription	Right Ventricle	heart
15	chr7:18600600-18602000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:18600600-18604400	Weak transcription	Primary B cells from cord blood	blood
17	chr7:18600600-18613200	Weak transcription	Left Ventricle	heart
18	chr7:18600600-18617600	Weak transcription	Psoas Muscle	Psoas
19	chr7:18600800-18602000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:18601000-18610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:18601400-18601600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:18601600-18609600	Weak transcription	Fetal Heart	heart
23	chr7:18601600-18613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:18602000-18605000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:18604400-18608600	Enhancers	Primary B cells from cord blood	blood
26	chr7:18604600-18605000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:18604600-18606600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:18604800-18605000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:18604800-18605400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:18604800-18610200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:18605000-18605200	Enhancers	Brain Angular Gyrus	brain
32	chr7:18605000-18605200	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:18605000-18605200	Enhancers	Right Atrium	heart
34	chr7:18605000-18605400	Enhancers	Brain Germinal Matrix	brain
35	chr7:18605000-18605400	Enhancers	Brain Hippocampus Middle	brain
36	chr7:18605000-18605400	Enhancers	Fetal Brain Male	brain
37	chr7:18605000-18606000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:18605000-18613000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:18605200-18612400	Weak transcription	Brain Angular Gyrus	brain
40	chr7:18605200-18613000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:18605200-18613000	Weak transcription	Right Atrium	heart
42	chr7:18605400-18609000	Weak transcription	Brain Germinal Matrix	brain
43	chr7:18605400-18610200	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:18605400-18610200	Weak transcription	Fetal Brain Male	brain
45	chr7:18605400-18620200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:18605800-18606800	Enhancers	Stomach Mucosa	stomach
47	chr7:18605800-18607600	Enhancers	Primary B cells from peripheral blood	blood
48	chr7:18606000-18606200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:18606000-18606600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:18606000-18606800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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