Variant report

Variant	nsv887752
Chromosome Location	chr7:16352616-16401190
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2063 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2063 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7787075	chr7:16352616-16352617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193189662	chr7:16352680-16352681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12111927	chr7:16352771-16352772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13240761	chr7:16352841-16352842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145467897	chr7:16352859-16352860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs137979698	chr7:16353004-16353005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553777996	chr7:16353012-16353013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552899810	chr7:16353019-16353020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183830814	chr7:16353022-16353023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572079968	chr7:16353038-16353039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187942375	chr7:16353078-16353079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192521340	chr7:16353143-16353144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10245613	chr7:16353157-16353158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112536554	chr7:16353164-16353165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183493962	chr7:16353172-16353173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543706926	chr7:16353184-16353185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565464444	chr7:16353204-16353205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75554394	chr7:16353238-16353239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114672375	chr7:16353244-16353245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11772183	chr7:16353248-16353249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142663922	chr7:16353270-16353271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144876854	chr7:16353293-16353294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545447297	chr7:16353301-16353302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188224293	chr7:16353335-16353336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539059194	chr7:16353339-16353340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549745943	chr7:16353340-16353341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558660331	chr7:16353355-16353356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10278573	chr7:16353388-16353389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191571328	chr7:16353399-16353400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10248789	chr7:16353419-16353420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185015123	chr7:16353447-16353448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76480211	chr7:16353518-16353519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554947945	chr7:16353527-16353528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576702427	chr7:16353540-16353541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537731638	chr7:16353625-16353626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370102133	chr7:16353724-16353725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558911228	chr7:16353755-16353756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78032071	chr7:16353770-16353771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148122022	chr7:16353772-16353773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182167676	chr7:16353773-16353774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542832957	chr7:16353779-16353780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545140696	chr7:16353792-16353793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186757418	chr7:16353800-16353801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537841730	chr7:16353821-16353822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572071717	chr7:16353835-16353836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138745796	chr7:16353844-16353845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189305913	chr7:16353854-16353855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531538353	chr7:16353892-16353893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181967741	chr7:16353898-16353899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564949564	chr7:16354054-16354055	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:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16347600-16356200	Weak transcription	K562	blood
2	chr7:16354600-16355400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:16354600-16355400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:16354800-16355200	Active TSS	NHDF-Ad	bronchial
5	chr7:16354800-16355400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:16354800-16355400	Active TSS	Aorta	Aorta
7	chr7:16354800-16355400	Active TSS	A549	lung
8	chr7:16355000-16355800	Enhancers	Stomach Mucosa	stomach
9	chr7:16355400-16355600	Enhancers	A549	lung
10	chr7:16355600-16356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:16355600-16358400	Weak transcription	A549	lung
12	chr7:16355800-16357800	Weak transcription	Stomach Mucosa	stomach
13	chr7:16356200-16357200	Strong transcription	K562	blood
14	chr7:16356200-16357400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:16357000-16357200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:16357200-16360400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:16357200-16372600	Weak transcription	K562	blood
18	chr7:16357400-16358400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:16357800-16359800	Enhancers	Stomach Mucosa	stomach
20	chr7:16358200-16358600	Enhancers	Gastric	stomach
21	chr7:16358200-16359400	Enhancers	HMEC	breast
22	chr7:16358200-16359400	Enhancers	NHEK	skin
23	chr7:16358200-16359600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:16358200-16359600	Enhancers	HUVEC	blood vessel
25	chr7:16358200-16359600	Enhancers	Osteobl	bone
26	chr7:16358200-16359800	Enhancers	NH-A	brain
27	chr7:16358400-16359200	Enhancers	A549	lung
28	chr7:16358400-16359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:16358400-16359400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:16358400-16359600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:16358400-16359600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:16358600-16359000	Weak transcription	Gastric	stomach
33	chr7:16358600-16359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:16358800-16359200	Enhancers	HSMM	muscle
35	chr7:16358800-16359400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:16359000-16359400	Enhancers	NHLF	lung
37	chr7:16359000-16359600	Enhancers	Gastric	stomach
38	chr7:16359000-16359600	Enhancers	HSMMtube	muscle
39	chr7:16359200-16359600	Enhancers	Esophagus	oesophagus
40	chr7:16359600-16373600	Weak transcription	Gastric	stomach
41	chr7:16359800-16360400	Weak transcription	Stomach Mucosa	stomach
42	chr7:16360400-16360800	Enhancers	Stomach Mucosa	stomach
43	chr7:16362600-16363800	Enhancers	Fetal Heart	heart
44	chr7:16368800-16369200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:16370400-16373600	Weak transcription	Aorta	Aorta
46	chr7:16372600-16373600	ZNF genes & repeats	K562	blood
47	chr7:16373200-16384400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:16373600-16373800	ZNF genes & repeats	Aorta	Aorta
49	chr7:16373600-16374200	ZNF genes & repeats	Gastric	stomach
50	chr7:16374000-16375400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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