Variant report

Variant	nsv468149
Chromosome Location	chr1:217134966-217203091
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:23)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:217135001..217135623-chr1:217505734..217506917,5	MCF-7	breast:
2	chr1:217177180..217179846-chr1:217183468..217185812,2	K562	blood:
3	chr1:217134497..217135535-chr1:217507001..217507878,7	MCF-7	breast:
4	chr1:217145233..217147235-chr1:217149077..217150789,2	MCF-7	breast:
5	chr1:217153129..217154880-chr1:217155625..217158488,2	MCF-7	breast:
6	chr1:217147953..217150849-chr1:217152542..217155478,3	MCF-7	breast:
7	chr1:217134795..217135296-chr1:217920370..217921166,2	MCF-7	breast:
8	chr1:217134808..217135638-chr1:217505825..217506636,3	MCF-7	breast:
9	chr1:217134480..217137377-chr1:217143582..217146918,3	MCF-7	breast:
10	chr1:217167662..217170376-chr1:217171384..217173746,2	MCF-7	breast:
11	chr1:217134480..217137377-chr1:217143582..217146918,3	MCF-7	breast:
12	chr1:217177180..217179846-chr1:217183468..217185812,2	K562	blood:
13	chr1:217167481..217170396-chr1:217191288..217193517,2	MCF-7	breast:
14	chr1:217147953..217150849-chr1:217152542..217155478,3	MCF-7	breast:
15	chr1:217153129..217154880-chr1:217155625..217158488,2	MCF-7	breast:
16	chr1:217167662..217170376-chr1:217171384..217173746,2	MCF-7	breast:
17	chr1:217134777..217135540-chr1:217566906..217567785,3	MCF-7	breast:
18	chr1:217135654..217136486-chr1:217505828..217506401,2	MCF-7	breast:
19	chr1:217134859..217135817-chr1:217833555..217834379,2	MCF-7	breast:
20	chr1:217167481..217170396-chr1:217191288..217193517,2	MCF-7	breast:
21	chr1:217200941..217201873-chr6:54053550..54054293,2	MCF-7	breast:
22	chr1:217165379..217166249-chr5:170520563..170521270,2	MCF-7	breast:
23	chr1:217145233..217147235-chr1:217149077..217150789,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPATCH2-5	chr1:217156103-217156149	NONHSAT009493
2	lnc-SPATA17-8	chr1:217164426-217164723	l_185_chr1:217158808-217164825_testes
3	lnc-GPATCH2-5	chr1:217155200-217155283	NONHSAT009493
4	lnc-SPATA17-8	chr1:217158809-217159572	l_185_chr1:217158808-217164825_testes
5	lnc-GPATCH2-5	chr1:217152722-217152980	NONHSAT009493
6	lnc-SPATA17-8	chr1:217164726-217164825	l_185_chr1:217158808-217164825_testes
7	lnc-GPATCH2-6	chr1:217159100-217159159	NONHSAT009492

No data

Extended variants
information (count: 2484 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2484 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1816565	chr1:217134966-217134967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549196148	chr1:217134981-217134982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545316154	chr1:217134986-217134987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564902529	chr1:217135004-217135005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150905075	chr1:217135005-217135006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543931306	chr1:217135015-217135016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373108994	chr1:217135017-217135018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184417096	chr1:217135074-217135075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529075775	chr1:217135081-217135082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377408133	chr1:217135118-217135119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551732581	chr1:217135121-217135122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546609323	chr1:217135140-217135141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560223842	chr1:217135155-217135156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189350565	chr1:217135228-217135229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2576218	chr1:217135229-217135230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182140839	chr1:217135258-217135259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2576217	chr1:217135261-217135262	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10492956	chr1:217135338-217135339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187220669	chr1:217135352-217135353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190854006	chr1:217135378-217135379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145793520	chr1:217135394-217135395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199646984	chr1:217135397-217135398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370475274	chr1:217135401-217135402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553728731	chr1:217135416-217135417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5780950	chr1:217135425-217135426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397831264	chr1:217135432-217135433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577190958	chr1:217135437-217135438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538523909	chr1:217135475-217135476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2576216	chr1:217135476-217135477	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2818784	chr1:217135498-217135499	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139388570	chr1:217135505-217135506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181692556	chr1:217135515-217135516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2818783	chr1:217135598-217135599	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558052344	chr1:217135600-217135601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74141709	chr1:217135611-217135612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185775972	chr1:217135620-217135621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116781658	chr1:217135653-217135654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201328063	chr1:217135663-217135664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374520202	chr1:217135666-217135667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563195864	chr1:217135674-217135675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531955536	chr1:217135703-217135704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548361500	chr1:217135718-217135719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74507389	chr1:217135737-217135738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115321862	chr1:217135739-217135740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547503074	chr1:217135750-217135751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570716968	chr1:217135818-217135819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190235611	chr1:217135862-217135863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557113994	chr1:217135891-217135892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78849229	chr1:217135900-217135901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76810723	chr1:217135901-217135902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217122400-217146200	Weak transcription	Pancreas	Pancrea
2	chr1:217125200-217135400	Weak transcription	Fetal Heart	heart
3	chr1:217134200-217135200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:217135200-217135800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:217135400-217135800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:217135400-217135800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:217135400-217135800	Enhancers	NHEK	skin
8	chr1:217135400-217136400	Enhancers	Fetal Heart	heart
9	chr1:217143400-217143800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:217143800-217149000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:217144000-217144600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:217144600-217147600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:217145800-217146800	Enhancers	Right Ventricle	heart
14	chr1:217146200-217146400	Enhancers	Pancreas	Pancrea
15	chr1:217146800-217147600	Weak transcription	Right Ventricle	heart
16	chr1:217147600-217148200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:217147600-217148600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:217147800-217148800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:217148000-217148200	Enhancers	Right Ventricle	heart
20	chr1:217148000-217149000	Enhancers	Brain Hippocampus Middle	brain
21	chr1:217148400-217149200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:217148600-217149000	Enhancers	Brain Substantia Nigra	brain
23	chr1:217149000-217149400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:217156600-217156800	Enhancers	Right Atrium	heart
25	chr1:217156600-217158200	Enhancers	Psoas Muscle	Psoas
26	chr1:217156800-217157800	Enhancers	Fetal Heart	heart
27	chr1:217157200-217157400	Enhancers	Fetal Muscle Leg	muscle
28	chr1:217157200-217157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:217157200-217158000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:217157200-217158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:217157200-217158200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:217157200-217158200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:217157400-217158000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:217157400-217194400	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:217157600-217158000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:217157600-217158000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:217157600-217158000	Enhancers	Brain Anterior Caudate	brain
38	chr1:217157600-217158200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:217157600-217158200	Enhancers	Brain Substantia Nigra	brain
40	chr1:217157600-217158800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:217157800-217158200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:217157800-217158200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:217158000-217158200	Enhancers	Right Atrium	heart
44	chr1:217159200-217159800	Enhancers	HSMMtube	muscle
45	chr1:217161000-217161200	Enhancers	Pancreas	Pancrea
46	chr1:217161200-217170600	Weak transcription	Pancreas	Pancrea
47	chr1:217168600-217168800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:217168600-217168800	Enhancers	Aorta	Aorta
49	chr1:217169000-217170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:217170400-217171000	Enhancers	Brain Germinal Matrix	brain

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