Variant report

Variant	nsv1004880
Chromosome Location	chr1:217157748-217206765
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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:217167481..217170396-chr1:217191288..217193517,2	MCF-7	breast:
2	chr1:217177180..217179846-chr1:217183468..217185812,2	K562	blood:
3	chr1:217167481..217170396-chr1:217191288..217193517,2	MCF-7	breast:
4	chr1:217153129..217154880-chr1:217155625..217158488,2	MCF-7	breast:
5	chr1:217165379..217166249-chr5:170520563..170521270,2	MCF-7	breast:
6	chr1:217200941..217201873-chr6:54053550..54054293,2	MCF-7	breast:
7	chr1:217167662..217170376-chr1:217171384..217173746,2	MCF-7	breast:
8	chr1:217177180..217179846-chr1:217183468..217185812,2	K562	blood:
9	chr1:217167662..217170376-chr1:217171384..217173746,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPATCH2-6	chr1:217159100-217159159	NONHSAT009492
2	lnc-SPATA17-8	chr1:217164726-217164825	l_185_chr1:217158808-217164825_testes
3	lnc-SPATA17-8	chr1:217158809-217159572	l_185_chr1:217158808-217164825_testes
4	lnc-SPATA17-8	chr1:217164426-217164723	l_185_chr1:217158808-217164825_testes

No data

Extended variants
information (count: 2006 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2006 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17044730	chr1:217157748-217157749	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74376882	chr1:217157794-217157795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564354923	chr1:217157808-217157809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35689753	chr1:217157828-217157829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148636386	chr1:217157841-217157842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555095959	chr1:217157846-217157847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35280023	chr1:217157875-217157876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573839365	chr1:217157912-217157913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111670209	chr1:217157920-217157921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75667019	chr1:217157970-217157971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557172958	chr1:217157978-217157979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542833358	chr1:217158033-217158034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562716435	chr1:217158059-217158060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1890556	chr1:217158081-217158082	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543380130	chr1:217158082-217158083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142087581	chr1:217158115-217158116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529572898	chr1:217158143-217158144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186736935	chr1:217158187-217158188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12094687	chr1:217158203-217158204	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77811528	chr1:217158209-217158210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191092145	chr1:217158236-217158237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58711391	chr1:217158293-217158294	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547033669	chr1:217158298-217158299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374488880	chr1:217158304-217158305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557282590	chr1:217158384-217158385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567554358	chr1:217158391-217158392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536293248	chr1:217158411-217158412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555231075	chr1:217158414-217158415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572041209	chr1:217158421-217158422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375590755	chr1:217158429-217158430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534485883	chr1:217158498-217158499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151137994	chr1:217158514-217158515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376013649	chr1:217158575-217158576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577635536	chr1:217158580-217158581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543163900	chr1:217158587-217158588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369297497	chr1:217158590-217158591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563250430	chr1:217158600-217158601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573676818	chr1:217158614-217158615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183278185	chr1:217158643-217158644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560072521	chr1:217158654-217158655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140023953	chr1:217158668-217158669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551916325	chr1:217158672-217158673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187524068	chr1:217158680-217158681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530985823	chr1:217158697-217158698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550793372	chr1:217158702-217158703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567459799	chr1:217158721-217158722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192821168	chr1:217158722-217158723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143918657	chr1:217158750-217158751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372989055	chr1:217158751-217158752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114632019	chr1:217158815-217158816	Weak transcription	lncRNA	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:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217156600-217158200	Enhancers	Psoas Muscle	Psoas
2	chr1:217156800-217157800	Enhancers	Fetal Heart	heart
3	chr1:217157200-217157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:217157200-217158000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:217157200-217158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:217157200-217158200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:217157200-217158200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:217157400-217158000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:217157400-217194400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:217157600-217158000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:217157600-217158000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:217157600-217158000	Enhancers	Brain Anterior Caudate	brain
13	chr1:217157600-217158200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:217157600-217158200	Enhancers	Brain Substantia Nigra	brain
15	chr1:217157600-217158800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:217157800-217158200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:217157800-217158200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:217158000-217158200	Enhancers	Right Atrium	heart
19	chr1:217159200-217159800	Enhancers	HSMMtube	muscle
20	chr1:217161000-217161200	Enhancers	Pancreas	Pancrea
21	chr1:217161200-217170600	Weak transcription	Pancreas	Pancrea
22	chr1:217168600-217168800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:217168600-217168800	Enhancers	Aorta	Aorta
24	chr1:217169000-217170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:217170400-217171000	Enhancers	Brain Germinal Matrix	brain
26	chr1:217170600-217170800	Enhancers	Pancreas	Pancrea
27	chr1:217170600-217170800	Enhancers	Psoas Muscle	Psoas
28	chr1:217170600-217171400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:217170600-217171600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:217170600-217171800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:217170600-217172000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:217170600-217172000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:217170800-217171000	Weak transcription	Pancreas	Pancrea
34	chr1:217170800-217171800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:217170800-217173600	Weak transcription	Left Ventricle	heart
36	chr1:217171000-217171400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:217171000-217172000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:217171400-217171600	Enhancers	Fetal Heart	heart
39	chr1:217173600-217174200	Enhancers	Left Ventricle	heart
40	chr1:217173600-217187600	Weak transcription	Fetal Heart	heart
41	chr1:217174200-217175200	Weak transcription	Left Ventricle	heart
42	chr1:217174600-217175200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:217176000-217176200	Enhancers	Left Ventricle	heart
44	chr1:217176000-217176200	Enhancers	Pancreas	Pancrea
45	chr1:217177800-217178800	Enhancers	Fetal Intestine Large	intestine
46	chr1:217178200-217179000	Enhancers	Fetal Intestine Small	intestine
47	chr1:217178800-217180000	Weak transcription	Fetal Intestine Large	intestine
48	chr1:217179000-217180400	Weak transcription	Fetal Intestine Small	intestine
49	chr1:217180000-217180800	Enhancers	Fetal Intestine Large	intestine
50	chr1:217180400-217180600	Enhancers	Fetal Intestine Small	intestine

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