Variant report

Variant	nsv521911
Chromosome Location	chr1:194355575-194436341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:194417615..194420407-chr1:194420472..194422250,2	K562	blood:
2	chr1:194425454..194428460-chr1:194432154..194435016,3	K562	blood:
3	chr1:194436232..194436752-chr8:43092409..43092930,2	MCF-7	breast:
4	chr1:194417615..194420407-chr1:194420472..194422250,2	K562	blood:
5	chr1:194425454..194427984-chr1:194432751..194435016,2	K562	blood:
6	chr1:194425454..194427984-chr1:194432751..194435016,2	K562	blood:
7	chr1:194425454..194428460-chr1:194432154..194435016,3	K562	blood:

Extended variants
information (count: 1526 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1526 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142082221	chr1:194363235-194363236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367674110	chr1:194363238-194363239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4411118	chr1:194363264-194363265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530512876	chr1:194363285-194363286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545930774	chr1:194363312-194363313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180914439	chr1:194363313-194363314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528248648	chr1:194363319-194363320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546491635	chr1:194363410-194363411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368621360	chr1:194363425-194363426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61510485	chr1:194363439-194363440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375003582	chr1:194363489-194363490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74133929	chr1:194363500-194363501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs58506737	chr1:194363521-194363522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371451493	chr1:194363526-194363527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74749504	chr1:194363573-194363574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558194258	chr1:194363600-194363601	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566870610	chr1:194363605-194363606	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369906192	chr1:194363633-194363634	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534376766	chr1:194363640-194363641	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74505781	chr1:194363660-194363661	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573979873	chr1:194363668-194363669	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs386638127	chr1:194363683-194363684	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs544545169	chr1:194363685-194363686	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs200383686	chr1:194363688-194363689	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556536145	chr1:194363689-194363690	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs575130362	chr1:194363690-194363691	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs75644420	chr1:194363693-194363694	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147466004	chr1:194363768-194363769	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572872320	chr1:194363800-194363801	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540405778	chr1:194363818-194363819	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561896110	chr1:194363845-194363846	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs80253341	chr1:194363846-194363847	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs550937736	chr1:194363884-194363885	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs10801304	chr1:194363925-194363926	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6428223	chr1:194364013-194364014	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs187260829	chr1:194364039-194364040	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs191045317	chr1:194364051-194364052	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183006471	chr1:194364056-194364057	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7537738	chr1:194364101-194364102	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549156883	chr1:194364135-194364136	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs187673212	chr1:194364160-194364161	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs374085878	chr1:194364170-194364171	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs6699193	chr1:194364197-194364198	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190164161	chr1:194364251-194364252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578198568	chr1:194364268-194364269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148080755	chr1:194364271-194364272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182801986	chr1:194364290-194364291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188049393	chr1:194364302-194364303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192623883	chr1:194364303-194364304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113804247	chr1:194364305-194364306	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194363200-194365000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:194363200-194365000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:194363200-194365800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:194363400-194363800	Enhancers	Brain Hippocampus Middle	brain
5	chr1:194363400-194364800	Enhancers	Brain Anterior Caudate	brain
6	chr1:194363400-194365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:194363600-194364200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:194363600-194364400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:194363800-194364200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:194363800-194364200	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr1:194363800-194364400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:194363800-194365600	Enhancers	Brain Substantia Nigra	brain
13	chr1:194364200-194365200	Enhancers	Brain Hippocampus Middle	brain
14	chr1:194365000-194369400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:194365000-194370400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:194365200-194370400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:194365600-194370200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:194365800-194366200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:194366200-194366400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:194366400-194369600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:194369400-194369600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:194369600-194369800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:194369600-194370000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:194369800-194370200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:194370000-194370400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:194370200-194370600	Active TSS	Brain Substantia Nigra	brain
27	chr1:194370200-194370800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:194370400-194370800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:194370400-194370800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:194370400-194370800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr1:194370600-194370800	Enhancers	Brain Substantia Nigra	brain
32	chr1:194370800-194371200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:194371200-194372200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:194372200-194372400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:194376400-194376600	Enhancers	Fetal Lung	lung
36	chr1:194376600-194380200	Weak transcription	Fetal Lung	lung
37	chr1:194380200-194380600	Enhancers	Fetal Lung	lung
38	chr1:194380600-194383200	Weak transcription	Fetal Lung	lung
39	chr1:194383200-194383400	ZNF genes & repeats	Fetal Lung	lung
40	chr1:194388800-194389200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:194389200-194389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:194389600-194390000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:194390000-194400600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:194400400-194400600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:194406600-194406800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:194411000-194413800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:194411400-194411800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:194411400-194412000	Enhancers	Brain Substantia Nigra	brain
49	chr1:194411400-194412200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:194411400-194413400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links