Variant report

Variant	nsv832559
Chromosome Location	chr1:217478801-217655645
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:55)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:217580811..217582563-chr1:217582799..217585765,2	MCF-7	breast:
2	chr1:217566468..217568953-chr1:217575383..217578070,3	MCF-7	breast:
3	chr1:217535107..217537483-chr1:217538021..217539893,2	MCF-7	breast:
4	chr1:217135001..217135623-chr1:217505734..217506917,5	MCF-7	breast:
5	chr1:217630734..217633329-chr1:217636600..217639215,2	K562	blood:
6	chr1:217638387..217640054-chr1:217641886..217643937,2	MCF-7	breast:
7	chr1:217597115..217599108-chr1:217600586..217603437,3	MCF-7	breast:
8	chr1:217630734..217633329-chr1:217636600..217639215,2	K562	blood:
9	chr1:217489631..217491711-chr1:217492316..217493917,2	MCF-7	breast:
10	chr1:217621946..217624264-chr1:217624328..217626276,2	MCF-7	breast:
11	chr1:217539965..217542862-chr1:217544226..217546661,2	MCF-7	breast:
12	chr1:217508295..217509151-chr1:217833670..217834235,2	MCF-7	breast:
13	chr1:217508215..217510079-chr1:217512050..217514923,2	K562	blood:
14	chr1:217488664..217491578-chr1:217492799..217494581,2	K562	blood:
15	chr1:217535107..217537483-chr1:217538021..217539893,2	MCF-7	breast:
16	chr1:217496166..217497723-chr1:217516986..217519850,2	K562	blood:
17	chr1:217134497..217135535-chr1:217507001..217507878,7	MCF-7	breast:
18	chr1:217134777..217135540-chr1:217566906..217567785,3	MCF-7	breast:
19	chr1:217134808..217135638-chr1:217505825..217506636,3	MCF-7	breast:
20	chr1:217507063..217507915-chr1:217752892..217753459,2	MCF-7	breast:
21	chr1:217523299..217525401-chr1:217528399..217530665,2	K562	blood:
22	chr1:217579573..217582131-chr1:217649977..217652660,2	K562	blood:
23	chr1:217508215..217510079-chr1:217512050..217514923,2	K562	blood:
24	chr1:217496166..217497723-chr1:217516986..217519850,2	K562	blood:
25	chr1:217523299..217525401-chr1:217528399..217530665,2	K562	blood:
26	chr1:217506077..217508223-chr1:217517241..217518760,2	MCF-7	breast:
27	chr1:217634519..217637367-chr1:217641084..217643674,2	MCF-7	breast:
28	chr1:217598437..217600404-chr1:217605411..217607338,2	K562	blood:
29	chr1:217580811..217582563-chr1:217582799..217585765,2	MCF-7	breast:
30	chr1:217598437..217600404-chr1:217605411..217607338,2	K562	blood:
31	chr1:217566468..217568953-chr1:217575383..217578070,3	MCF-7	breast:
32	chr1:217489631..217491711-chr1:217492316..217493917,2	MCF-7	breast:
33	chr1:217221077..217222358-chr1:217507021..217508605,8	MCF-7	breast:
34	chr1:217638387..217640054-chr1:217641886..217643937,2	MCF-7	breast:
35	chr1:216740049..216740610-chr1:217507843..217508439,2	MCF-7	breast:
36	chr1:217597115..217599108-chr1:217600586..217603437,3	MCF-7	breast:
37	chr1:217561151..217563537-chrX:153628100..153630726,2	MCF-7	breast:
38	chr1:216923084..216923982-chr1:217507003..217507840,6	MCF-7	breast:
39	chr1:217221377..217221879-chr1:217505790..217506706,2	MCF-7	breast:
40	chr1:217506077..217508223-chr1:217517241..217518760,2	MCF-7	breast:
41	chr1:217507423..217507959-chr1:217736320..217736956,2	MCF-7	breast:
42	chr1:217595424..217597576-chr1:217728091..217730905,2	MCF-7	breast:
43	chr1:217493104..217494890-chr1:217497879..217500078,3	MCF-7	breast:
44	chr1:217621946..217624264-chr1:217624328..217626276,2	MCF-7	breast:
45	chr1:217262786..217263542-chr1:217505768..217506292,2	MCF-7	breast:
46	chr1:217539965..217542862-chr1:217544226..217546661,2	MCF-7	breast:
47	chr1:217488664..217491578-chr1:217492799..217494581,2	K562	blood:
48	chr1:217634519..217637367-chr1:217641084..217643674,2	MCF-7	breast:
49	chr1:217579573..217582131-chr1:217649977..217652660,2	K562	blood:
50	chr1:217653972..217656093-chr1:217662662..217664329,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPATA17-6	chr1:217481174-217481273	l_186_chr1:217458480-217485849_testes
2	lnc-SPATA17-6	chr1:217630917-217630977	l_186_chr1:217458480-217485849_testes
3	lnc-SPATA17-6	chr1:217485824-217485849	l_186_chr1:217458480-217485849_testes
4	lnc-ESRRG-3	chr1:217649646-217650232	NONHSAT009496
5	lnc-ESRRG-2	chr1:217600340-217602209	NONHSAT009495
6	lnc-ESRRG-3	chr1:217651683-217651906	NONHSAT009496
7	lnc-SPATA17-6	chr1:217534870-217535116	l_186_chr1:217458480-217485849_testes

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GPATCH2	hsa-miR-130b-3p	chr1:217604282-217604303
2	GPATCH2	hsa-miR-93-5p	chr1:217604280-217604302

Variant related genes	Relation type
ENSG00000147403	chromatin interactions
ENSG00000196482	chromatin interactions
ENSG00000207165	chromatin interactions

Extended variants
information (count: 4847 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4847 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551450092	chr1:217481176-217481177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs571302092	chr1:217481177-217481178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs566181846	chr1:217481184-217481185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs535183846	chr1:217481218-217481219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs537154250	chr1:217481260-217481261	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs556645032	chr1:217481262-217481263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs573598961	chr1:217481263-217481264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536525464	chr1:217481266-217481267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs573927154	chr1:217485832-217485833	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs149703872	chr1:217485833-217485834	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs369309885	chr1:217485835-217485836	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs559461741	chr1:217485836-217485837	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs186892323	chr1:217485841-217485842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs544326419	chr1:217485842-217485843	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs550121283	chr1:217487265-217487266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566943622	chr1:217487319-217487320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12730486	chr1:217487322-217487323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140731370	chr1:217487393-217487394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566939299	chr1:217487414-217487415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145892685	chr1:217487429-217487430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558887014	chr1:217487458-217487459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561936112	chr1:217487484-217487485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575652676	chr1:217487495-217487496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373372664	chr1:217487497-217487498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538356838	chr1:217487512-217487513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374153724	chr1:217487539-217487540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574916197	chr1:217487572-217487573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377533260	chr1:217487583-217487584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12080063	chr1:217487604-217487605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188822070	chr1:217487666-217487667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115330773	chr1:217487705-217487706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545144074	chr1:217487712-217487713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115444053	chr1:217487734-217487735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530492853	chr1:217487750-217487751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550286767	chr1:217487766-217487767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12074814	chr1:217487781-217487782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529679373	chr1:217487825-217487826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61816996	chr1:217487864-217487865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567106628	chr1:217487903-217487904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372086878	chr1:217487905-217487906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528852115	chr1:217487906-217487907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11117853	chr1:217487940-217487941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569496152	chr1:217488001-217488002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538321891	chr1:217488021-217488022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2173293	chr1:217488042-217488043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555134761	chr1:217488061-217488062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568887780	chr1:217488095-217488096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574877368	chr1:217488135-217488136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534248369	chr1:217488173-217488174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141047566	chr1:217488210-217488211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Autism	14699429	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217487200-217487800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:217487800-217488800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:217488400-217489400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:217489000-217489200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:217491000-217491400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:217492800-217493000	Enhancers	Fetal Intestine Large	intestine
7	chr1:217494000-217495000	Weak transcription	Aorta	Aorta
8	chr1:217494400-217494600	Enhancers	Fetal Intestine Small	intestine
9	chr1:217494600-217495200	Enhancers	Fetal Intestine Large	intestine
10	chr1:217494600-217496400	Weak transcription	Fetal Intestine Small	intestine
11	chr1:217495000-217495200	ZNF genes & repeats	Aorta	Aorta
12	chr1:217495200-217497800	Weak transcription	Fetal Intestine Large	intestine
13	chr1:217495200-217505000	Weak transcription	Aorta	Aorta
14	chr1:217495600-217497600	Enhancers	GM12878-XiMat	blood
15	chr1:217496400-217500200	Enhancers	Fetal Intestine Small	intestine
16	chr1:217496600-217497600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:217497200-217497600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:217497200-217497600	Enhancers	HMEC	breast
19	chr1:217497800-217498400	Enhancers	Fetal Intestine Large	intestine
20	chr1:217498400-217498800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:217498800-217499800	Enhancers	Fetal Intestine Large	intestine
22	chr1:217499200-217500200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:217500600-217500800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:217502400-217503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:217503200-217503800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:217503400-217503800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:217503400-217504000	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr1:217504000-217505000	Weak transcription	Fetal Intestine Small	intestine
29	chr1:217504200-217506400	Enhancers	Fetal Stomach	stomach
30	chr1:217504600-217505000	Enhancers	Stomach Smooth Muscle	stomach
31	chr1:217504800-217506200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:217504800-217506200	Enhancers	Fetal Lung	lung
33	chr1:217505000-217505400	Enhancers	Adipose Nuclei	Adipose
34	chr1:217505000-217505400	Enhancers	Fetal Intestine Small	intestine
35	chr1:217505000-217505400	Enhancers	Fetal Muscle Leg	muscle
36	chr1:217505000-217505400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:217505000-217506600	Enhancers	Fetal Heart	heart
38	chr1:217505000-217506800	Enhancers	Aorta	Aorta
39	chr1:217505200-217506400	Enhancers	Colon Smooth Muscle	Colon
40	chr1:217505400-217506400	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:217506400-217507400	Weak transcription	Fetal Stomach	stomach
42	chr1:217507400-217508200	Enhancers	Fetal Stomach	stomach
43	chr1:217507600-217508200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:217511600-217513600	Enhancers	HepG2	liver
45	chr1:217513200-217513400	Enhancers	Fetal Heart	heart
46	chr1:217513400-217518000	Weak transcription	Fetal Heart	heart
47	chr1:217513600-217514000	Enhancers	Fetal Intestine Large	intestine
48	chr1:217514000-217514600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:217515200-217516200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:217516400-217517800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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