Variant report

Variant	nsv887746
Chromosome Location	chr7:16348091-16401190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16355252..16356944-chr7:16359954..16363461,3	K562	blood:
2	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
3	chr7:16394955..16400745-chr7:16401367..16408404,9	K562	blood:
4	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
5	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
6	chr7:16347978..16350861-chr7:16364873..16367398,2	K562	blood:
7	chr7:16335409..16337001-chr7:16354047..16355950,2	K562	blood:
8	chr7:16348686..16351561-chr7:16354430..16357375,3	K562	blood:
9	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
10	chr7:16349823..16352454-chr7:16353444..16355930,3	K562	blood:
11	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
12	chr7:16358608..16360256-chr7:16374793..16376621,2	K562	blood:
13	chr7:16361874..16363592-chr7:16364507..16366476,2	K562	blood:
14	chr7:16348138..16350804-chr7:16362128..16364167,2	K562	blood:
15	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
16	chr7:16348138..16350804-chr7:16362128..16364167,2	K562	blood:
17	chr7:16355408..16358313-chr7:16359954..16363461,3	K562	blood:
18	chr7:16364478..16366414-chr7:16372381..16373982,2	K562	blood:
19	chr7:16348686..16351561-chr7:16354430..16357375,3	K562	blood:
20	chr7:16355252..16356944-chr7:16359954..16363461,3	K562	blood:
21	chr7:16361901..16363592-chr7:16364009..16366007,2	K562	blood:
22	chr7:16361901..16363592-chr7:16364009..16366007,2	K562	blood:
23	chr7:16397851..16402172-chr7:16402336..16405323,3	K562	blood:
24	chr7:16346273..16347971-chr7:16353272..16356192,2	K562	blood:
25	chr7:16333849..16337358-chr7:16346440..16349011,3	K562	blood:
26	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
27	chr7:16374992..16378303-chr7:16378786..16381334,3	K562	blood:
28	chr7:16364478..16366414-chr7:16372381..16373982,2	K562	blood:
29	chr7:16343653..16345575-chr7:16349935..16352190,3	K562	blood:
30	chr7:16333754..16335349-chr7:16345715..16348508,2	K562	blood:
31	chr7:16361874..16363592-chr7:16364507..16366476,2	K562	blood:
32	chr7:16349823..16352454-chr7:16353444..16355930,3	K562	blood:
33	chr7:16347978..16350861-chr7:16364873..16367398,2	K562	blood:
34	chr7:16358608..16360256-chr7:16374793..16376621,2	K562	blood:
35	chr7:16374992..16378303-chr7:16378786..16381334,3	K562	blood:
36	chr7:16355408..16358313-chr7:16359954..16363461,3	K562	blood:

No data

Extended variants
information (count: 2270 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2270 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13437646	chr7:16348091-16348092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565882933	chr7:16348094-16348095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536338400	chr7:16348095-16348096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375132134	chr7:16348139-16348140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397515397	chr7:16348146-16348147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369193825	chr7:16348161-16348162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372514498	chr7:16348172-16348173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61746966	chr7:16348211-16348212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs397515409	chr7:16348224-16348225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200114996	chr7:16348242-16348243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576004487	chr7:16348253-16348254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142647500	chr7:16348262-16348263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375783763	chr7:16348263-16348264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199662909	chr7:16348273-16348274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201001105	chr7:16348279-16348280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537770139	chr7:16348291-16348292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201759747	chr7:16348293-16348294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373276049	chr7:16348294-16348295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115870182	chr7:16348330-16348331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559983285	chr7:16348358-16348359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572208795	chr7:16348364-16348365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542726945	chr7:16348385-16348386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34676685	chr7:16348397-16348398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372485056	chr7:16348400-16348401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34449691	chr7:16348423-16348424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73298636	chr7:16348447-16348448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73065181	chr7:16348506-16348507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550060514	chr7:16348514-16348515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564988726	chr7:16348519-16348520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5882565	chr7:16348520-16348521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117659137	chr7:16348532-16348533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547296842	chr7:16348537-16348538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145593151	chr7:16348548-16348549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533086720	chr7:16348551-16348552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565525035	chr7:16348573-16348574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191791255	chr7:16348598-16348599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1859420	chr7:16348615-16348616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs28715511	chr7:16348623-16348624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1859419	chr7:16348636-16348637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577511562	chr7:16348678-16348679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535315084	chr7:16348690-16348691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34294710	chr7:16348743-16348744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201458166	chr7:16348747-16348748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1859418	chr7:16348763-16348764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534678165	chr7:16348777-16348778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575060371	chr7:16348780-16348781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147625627	chr7:16348790-16348791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369798277	chr7:16348791-16348792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17169417	chr7:16348830-16348831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs111759965	chr7:16348889-16348890	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
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
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16313600-16348200	Weak transcription	Gastric	stomach
2	chr7:16333400-16349000	Weak transcription	Psoas Muscle	Psoas
3	chr7:16347600-16356200	Weak transcription	K562	blood
4	chr7:16349000-16349600	Enhancers	Fetal Heart	heart
5	chr7:16349000-16350000	Enhancers	Psoas Muscle	Psoas
6	chr7:16349200-16349600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr7:16354600-16355400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:16354600-16355400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:16354800-16355200	Active TSS	NHDF-Ad	bronchial
10	chr7:16354800-16355400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:16354800-16355400	Active TSS	Aorta	Aorta
12	chr7:16354800-16355400	Active TSS	A549	lung
13	chr7:16355000-16355800	Enhancers	Stomach Mucosa	stomach
14	chr7:16355400-16355600	Enhancers	A549	lung
15	chr7:16355600-16356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:16355600-16358400	Weak transcription	A549	lung
17	chr7:16355800-16357800	Weak transcription	Stomach Mucosa	stomach
18	chr7:16356200-16357200	Strong transcription	K562	blood
19	chr7:16356200-16357400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:16357000-16357200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:16357200-16360400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:16357200-16372600	Weak transcription	K562	blood
23	chr7:16357400-16358400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:16357800-16359800	Enhancers	Stomach Mucosa	stomach
25	chr7:16358200-16358600	Enhancers	Gastric	stomach
26	chr7:16358200-16359400	Enhancers	HMEC	breast
27	chr7:16358200-16359400	Enhancers	NHEK	skin
28	chr7:16358200-16359600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:16358200-16359600	Enhancers	HUVEC	blood vessel
30	chr7:16358200-16359600	Enhancers	Osteobl	bone
31	chr7:16358200-16359800	Enhancers	NH-A	brain
32	chr7:16358400-16359200	Enhancers	A549	lung
33	chr7:16358400-16359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:16358400-16359400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:16358400-16359600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:16358400-16359600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:16358600-16359000	Weak transcription	Gastric	stomach
38	chr7:16358600-16359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:16358800-16359200	Enhancers	HSMM	muscle
40	chr7:16358800-16359400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:16359000-16359400	Enhancers	NHLF	lung
42	chr7:16359000-16359600	Enhancers	Gastric	stomach
43	chr7:16359000-16359600	Enhancers	HSMMtube	muscle
44	chr7:16359200-16359600	Enhancers	Esophagus	oesophagus
45	chr7:16359600-16373600	Weak transcription	Gastric	stomach
46	chr7:16359800-16360400	Weak transcription	Stomach Mucosa	stomach
47	chr7:16360400-16360800	Enhancers	Stomach Mucosa	stomach
48	chr7:16362600-16363800	Enhancers	Fetal Heart	heart
49	chr7:16368800-16369200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:16370400-16373600	Weak transcription	Aorta	Aorta

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