Variant report

Variant	nsv832104
Chromosome Location	chr1:189990148-190186708
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:39)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190055531..190057704-chr1:190069392..190071855,2	MCF-7	breast:
2	chr1:190092651..190093439-chr2:54308392..54308957,2	MCF-7	breast:
3	chr1:190076082..190077673-chr1:190081845..190083899,2	MCF-7	breast:
4	chr1:190073397..190073897-chr4:160930237..160930784,2	MCF-7	breast:
5	chr1:190088571..190089071-chr15:45927030..45927668,2	Hela-S3	cervix:
6	chr1:190112430..190114131-chr1:190121915..190123465,2	MCF-7	breast:
7	chr1:190173673..190175188-chr1:190177989..190179774,2	MCF-7	breast:
8	chr1:190116840..190117442-chr1:190254256..190254849,2	MCF-7	breast:
9	chr1:190017220..190019071-chr1:190031921..190033627,2	MCF-7	breast:
10	chr1:190124803..190126326-chr1:190141675..190144317,2	MCF-7	breast:
11	chr1:190116332..190118832-chr1:190120575..190122543,3	MCF-7	breast:
12	chr1:190116332..190118832-chr1:190120575..190122543,3	MCF-7	breast:
13	chr1:190111398..190114378-chr1:190180159..190181756,2	K562	blood:
14	chr1:190142617..190144929-chr1:190148511..190151415,3	K562	blood:
15	chr1:190082769..190084320-chr1:190085151..190086773,2	K562	blood:
16	chr1:190173673..190175188-chr1:190177989..190179774,2	MCF-7	breast:
17	chr1:190090367..190092433-chr1:190093138..190095583,2	K562	blood:
18	chr1:190076082..190077673-chr1:190081845..190083899,2	MCF-7	breast:
19	chr1:190084612..190087252-chr1:190089357..190091762,2	K562	blood:
20	chr1:190142617..190144929-chr1:190148511..190151415,3	K562	blood:
21	chr1:189897967..189900169-chr1:190054489..190056512,2	MCF-7	breast:
22	chr1:190142617..190144504-chr1:190148511..190150463,2	K562	blood:
23	chr1:190068465..190070219-chr1:190071974..190074845,2	MCF-7	breast:
24	chr1:190112430..190114131-chr1:190121915..190123465,2	MCF-7	breast:
25	chr1:190068465..190070219-chr1:190071974..190074845,2	MCF-7	breast:
26	chr1:189828427..189829123-chr1:190093339..190093859,2	MCF-7	breast:
27	chr1:190082769..190084320-chr1:190085151..190086773,2	K562	blood:
28	chr1:189677502..189678569-chr1:190053452..190054228,3	MCF-7	breast:
29	chr1:190093099..190093736-chr5:74137180..74137680,2	MCF-7	breast:
30	chr1:190011663..190013449-chr1:190017469..190019523,2	K562	blood:
31	chr1:190084612..190087252-chr1:190089357..190091762,2	K562	blood:
32	chr1:190017220..190019071-chr1:190031921..190033627,2	MCF-7	breast:
33	chr1:190142617..190144504-chr1:190148511..190150463,2	K562	blood:
34	chr1:190124739..190125631-chr12:61351511..61352201,2	MCF-7	breast:
35	chr1:190124803..190126326-chr1:190141675..190144317,2	MCF-7	breast:
36	chr1:190111398..190114378-chr1:190180159..190181756,2	K562	blood:
37	chr1:190090367..190092433-chr1:190093138..190095583,2	K562	blood:
38	chr1:190055531..190057704-chr1:190069392..190071855,2	MCF-7	breast:
39	chr1:190011663..190013449-chr1:190017469..190019523,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCHL5-9	chr1:190094460-190094933	NONHSAT008490
2	lnc-UCHL5-9	chr1:190094516-190094933	NONHSAT008491
3	lnc-UCHL5-9	chr1:190102573-190102713	NONHSAT008490
4	lnc-UCHL5-9	chr1:190125818-190125982	NONHSAT008491
5	lnc-RGS18-14	chr1:190111248-190111453	NONHSAT008492

No data

Extended variants
information (count: 4676 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:4676 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184651142	chr1:189990151-189990152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139499873	chr1:189990156-189990157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4845213	chr1:189990189-189990190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530661475	chr1:189990190-189990191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544328441	chr1:189990194-189990195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560697242	chr1:189990241-189990242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189567551	chr1:189990254-189990255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144182913	chr1:189990289-189990290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567110995	chr1:189990319-189990320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181104922	chr1:189990339-189990340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552345535	chr1:189990350-189990351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550389943	chr1:189990380-189990381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4845214	chr1:189990412-189990413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532983234	chr1:189990426-189990427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546774499	chr1:189990427-189990428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4845215	chr1:189990469-189990470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565192907	chr1:189990508-189990509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139725111	chr1:189990518-189990519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185743619	chr1:189990529-189990530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112631337	chr1:189990531-189990532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149932941	chr1:189990536-189990537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541193250	chr1:189990559-189990560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548630014	chr1:189990561-189990562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534157840	chr1:189990581-189990582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553881526	chr1:189990599-189990600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573171129	chr1:189990658-189990659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370426560	chr1:189990659-189990660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6688952	chr1:189990663-189990664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537417426	chr1:189990664-189990665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190501680	chr1:189990674-189990675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144997183	chr1:189990679-189990680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544095327	chr1:189990681-189990682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6689051	chr1:189990720-189990721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181671310	chr1:189990730-189990731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186365655	chr1:189990743-189990744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376349824	chr1:189990744-189990745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548427026	chr1:189990745-189990746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375938749	chr1:189990756-189990757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61819008	chr1:189990763-189990764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148703607	chr1:189990797-189990798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6689070	chr1:189990805-189990806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569232271	chr1:189990815-189990816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76737132	chr1:189990817-189990818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144496346	chr1:189990820-189990821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12749911	chr1:189990834-189990835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534078363	chr1:189990852-189990853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554125511	chr1:189990868-189990869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12732394	chr1:189990878-189990879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2900731	chr1:189990939-189990940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12736727	chr1:189990976-189990977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189989600-189990400	Enhancers	A549	lung
2	chr1:189990400-189991400	Weak transcription	A549	lung
3	chr1:189991400-189992200	Enhancers	A549	lung
4	chr1:190006600-190007200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:190006600-190007200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:190007200-190020600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:190016000-190016800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:190016000-190016800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:190018600-190018800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:190018800-190021200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:190019600-190019800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:190019800-190021400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:190020400-190021800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:190020600-190021200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:190021000-190021400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:190021400-190021800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:190036200-190036600	Enhancers	Fetal Intestine Large	intestine
18	chr1:190036200-190037000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:190036200-190037600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:190036600-190036800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:190037400-190037600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:190053600-190054200	Enhancers	Placenta	Placenta
23	chr1:190062600-190063000	Enhancers	Fetal Intestine Small	intestine
24	chr1:190062800-190063000	Enhancers	Fetal Intestine Large	intestine
25	chr1:190063000-190067200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:190063200-190065000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:190065000-190065200	Enhancers	Fetal Intestine Large	intestine
28	chr1:190065200-190067200	Weak transcription	Fetal Intestine Large	intestine
29	chr1:190065400-190067000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:190066400-190068800	Weak transcription	Colonic Mucosa	Colon
31	chr1:190067000-190068000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:190067000-190068000	Enhancers	HepG2	liver
33	chr1:190067200-190068200	Strong transcription	Fetal Intestine Large	intestine
34	chr1:190067200-190068200	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr1:190068000-190068200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:190068000-190071800	Weak transcription	HepG2	liver
37	chr1:190068000-190085600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:190068200-190069200	Weak transcription	Fetal Intestine Small	intestine
39	chr1:190068200-190079400	Weak transcription	Fetal Intestine Large	intestine
40	chr1:190071400-190072200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:190071800-190072800	Enhancers	HepG2	liver
42	chr1:190072200-190073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:190073200-190073400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:190073800-190074800	Enhancers	Fetal Heart	heart
45	chr1:190074200-190074800	Enhancers	Brain Anterior Caudate	brain
46	chr1:190074200-190074800	Enhancers	Fetal Lung	lung
47	chr1:190084800-190086200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:190086000-190086400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:190086000-190086400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:190086200-190087200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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