Variant report

Variant	nsv464403
Chromosome Location	chr7:19452649-19516492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19161356..19162289-chr7:19481424..19482541,6	MCF-7	breast:
2	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
3	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:

Extended variants
information (count: 1337 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1337 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7805397	chr7:19452649-19452650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559764316	chr7:19452709-19452710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369432953	chr7:19452777-19452778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151318960	chr7:19452921-19452922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571699973	chr7:19452933-19452934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542548952	chr7:19452958-19452959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560827250	chr7:19452962-19452963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531478163	chr7:19452981-19452982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559502300	chr7:19453009-19453010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17353320	chr7:19453047-19453048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541349608	chr7:19453053-19453054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542146939	chr7:19453054-19453055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12113103	chr7:19453080-19453081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564203573	chr7:19453111-19453112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533005151	chr7:19453112-19453113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543203876	chr7:19453226-19453227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551579470	chr7:19453242-19453243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77071237	chr7:19453292-19453293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527668237	chr7:19453303-19453304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533414264	chr7:19453329-19453330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71524290	chr7:19453332-19453333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370199825	chr7:19453349-19453350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538121331	chr7:19453356-19453357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548725954	chr7:19453373-19453374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556725666	chr7:19453380-19453381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571700757	chr7:19453465-19453466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538768977	chr7:19453498-19453499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565638150	chr7:19453524-19453525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17353334	chr7:19453539-19453540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181738232	chr7:19453614-19453615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374762867	chr7:19453716-19453717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13230493	chr7:19453726-19453727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576297940	chr7:19453814-19453815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571846427	chr7:19453822-19453823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561959207	chr7:19453840-19453841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371251246	chr7:19453887-19453888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537647811	chr7:19453905-19453906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140619125	chr7:19453908-19453909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532196720	chr7:19453957-19453958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374491207	chr7:19453976-19453977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545550267	chr7:19453995-19453996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560545231	chr7:19454000-19454001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527757782	chr7:19454035-19454036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187231099	chr7:19454054-19454055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567622871	chr7:19454069-19454070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532033371	chr7:19454085-19454086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550198420	chr7:19454092-19454093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374395435	chr7:19454105-19454106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571845739	chr7:19454108-19454109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150452216	chr7:19454152-19454153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19450800-19453000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:19452800-19456800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:19453000-19453800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:19453000-19453800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:19453000-19454200	Enhancers	Fetal Lung	lung
6	chr7:19453000-19456800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:19453000-19457200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:19453200-19453800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:19453200-19453800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr7:19453200-19453800	Enhancers	Fetal Stomach	stomach
11	chr7:19453200-19456800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:19453200-19456800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:19453400-19453800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:19453400-19453800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:19453400-19453800	Enhancers	Brain Germinal Matrix	brain
16	chr7:19453800-19454800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:19453800-19454800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:19453800-19454800	Weak transcription	Fetal Stomach	stomach
19	chr7:19453800-19455200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:19453800-19455200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:19453800-19461200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:19454800-19456600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:19454800-19456800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:19454800-19457200	Enhancers	Fetal Stomach	stomach
25	chr7:19455200-19455800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr7:19455200-19457000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:19456200-19456600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:19456800-19457800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:19456800-19460800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:19456800-19461000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:19456800-19461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:19456800-19461400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:19457200-19461400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:19460200-19461600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:19460400-19460800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:19460400-19461200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:19460800-19462200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:19460800-19462200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:19461000-19462000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:19461000-19462200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:19461000-19462400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:19461200-19461400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:19461200-19461400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:19461200-19462200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:19461200-19462200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:19461400-19461800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:19461400-19461800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:19461400-19462000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:19461400-19462200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:19461400-19462200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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