Variant report

Variant	nsv606294
Chromosome Location	chr7:15262599-15318794
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	chr7:15262308..15264487-chr7:15270699..15272942,2	K562	blood:
2	chr7:15262308..15264487-chr7:15270699..15272942,2	K562	blood:

Extended variants
information (count: 1590 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1590 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12674087	chr7:15262599-15262600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537478615	chr7:15262628-15262629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4389823	chr7:15262634-15262635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567603935	chr7:15262662-15262663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4563782	chr7:15262665-15262666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs113453002	chr7:15262690-15262691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199548913	chr7:15262732-15262733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553183933	chr7:15262733-15262734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561143978	chr7:15262745-15262746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73679450	chr7:15262811-15262812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146711211	chr7:15262892-15262893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558264958	chr7:15262930-15262931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370415757	chr7:15262972-15262973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574971770	chr7:15262983-15262984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374388142	chr7:15262988-15262989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183611860	chr7:15262994-15262995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139299066	chr7:15263007-15263008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13438153	chr7:15263023-15263024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559969721	chr7:15263037-15263038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528696399	chr7:15263040-15263041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551990889	chr7:15263117-15263118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565409983	chr7:15263136-15263137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531013871	chr7:15263151-15263152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374634209	chr7:15263173-15263174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187904172	chr7:15263202-15263203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567554315	chr7:15263205-15263206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536619186	chr7:15263272-15263273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544135384	chr7:15263348-15263349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111677099	chr7:15263380-15263381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77454479	chr7:15263387-15263388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113242898	chr7:15263392-15263393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558328158	chr7:15263403-15263404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111733452	chr7:15263404-15263405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146626141	chr7:15263423-15263424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566094325	chr7:15263426-15263427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568652966	chr7:15263428-15263429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537558701	chr7:15263432-15263433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139559514	chr7:15263459-15263460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144984657	chr7:15263515-15263516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564009054	chr7:15263536-15263537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192585341	chr7:15263554-15263555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184976069	chr7:15263590-15263591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202071161	chr7:15263591-15263592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552773780	chr7:15263720-15263721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553426791	chr7:15263750-15263751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6967180	chr7:15263797-15263798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs80322280	chr7:15263806-15263807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147559563	chr7:15263815-15263816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545654630	chr7:15263817-15263818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565485562	chr7:15263851-15263852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15253600-15264800	Weak transcription	Liver	Liver
2	chr7:15264800-15266000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:15264800-15267200	Enhancers	Liver	Liver
4	chr7:15268400-15269000	Enhancers	NHDF-Ad	bronchial
5	chr7:15271800-15273000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:15272000-15272800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:15275600-15276600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:15275600-15277000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:15275800-15276000	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:15276000-15276200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr7:15276000-15276800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:15276000-15277400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:15276000-15278000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:15276200-15276800	Active TSS	Primary hematopoietic stem cells	blood
15	chr7:15276600-15277800	Active TSS	Primary B cells from cord blood	blood
16	chr7:15276600-15278000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr7:15276800-15277200	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:15276800-15277200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:15277000-15277800	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:15277200-15277400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr7:15277200-15284800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:15277400-15277800	Active TSS	Primary hematopoietic stem cells	blood
23	chr7:15277400-15281200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:15277800-15278600	Weak transcription	Primary B cells from cord blood	blood
25	chr7:15277800-15279000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:15277800-15281200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:15278000-15278400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr7:15278000-15278600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:15278400-15280000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:15278600-15279000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr7:15278600-15279800	Active TSS	Primary B cells from cord blood	blood
32	chr7:15279000-15279400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:15279000-15279400	Active TSS	Primary hematopoietic stem cells	blood
34	chr7:15279200-15279600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:15279400-15279800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr7:15279800-15281400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr7:15280600-15280800	Enhancers	Primary B cells from cord blood	blood
38	chr7:15281200-15281600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:15281200-15281600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:15284400-15298000	Weak transcription	Liver	Liver
41	chr7:15284800-15286800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:15284800-15287200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:15285000-15286200	Enhancers	Brain Germinal Matrix	brain
44	chr7:15285000-15286600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:15288000-15288600	Enhancers	HUVEC	blood vessel
46	chr7:15291200-15291600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:15292000-15292200	Enhancers	Aorta	Aorta
48	chr7:15292200-15292400	Weak transcription	Aorta	Aorta
49	chr7:15306000-15306800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:15306000-15306800	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links