Variant report

Variant	nsv548548
Chromosome Location	chr1:190063211-190108881
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:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190076082..190077673-chr1:190081845..190083899,2	MCF-7	breast:
2	chr1:190068465..190070219-chr1:190071974..190074845,2	MCF-7	breast:
3	chr1:190076082..190077673-chr1:190081845..190083899,2	MCF-7	breast:
4	chr1:190088571..190089071-chr15:45927030..45927668,2	Hela-S3	cervix:
5	chr1:190082769..190084320-chr1:190085151..190086773,2	K562	blood:
6	chr1:190084612..190087252-chr1:190089357..190091762,2	K562	blood:
7	chr1:190090367..190092433-chr1:190093138..190095583,2	K562	blood:
8	chr1:190082769..190084320-chr1:190085151..190086773,2	K562	blood:
9	chr1:190092651..190093439-chr2:54308392..54308957,2	MCF-7	breast:
10	chr1:190093099..190093736-chr5:74137180..74137680,2	MCF-7	breast:
11	chr1:190084612..190087252-chr1:190089357..190091762,2	K562	blood:
12	chr1:190073397..190073897-chr4:160930237..160930784,2	MCF-7	breast:
13	chr1:190055531..190057704-chr1:190069392..190071855,2	MCF-7	breast:
14	chr1:190090367..190092433-chr1:190093138..190095583,2	K562	blood:
15	chr1:189828427..189829123-chr1:190093339..190093859,2	MCF-7	breast:
16	chr1:190068465..190070219-chr1:190071974..190074845,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCHL5-9	chr1:190094516-190094933	NONHSAT008491
2	lnc-UCHL5-9	chr1:190094460-190094933	NONHSAT008490
3	lnc-UCHL5-9	chr1:190102573-190102713	NONHSAT008490

No data

Extended variants
information (count: 1589 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1589 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1935882	chr1:190063211-190063212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116808145	chr1:190063273-190063274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527990313	chr1:190063296-190063297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547577888	chr1:190063322-190063323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570759046	chr1:190063372-190063373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560219094	chr1:190063393-190063394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150542430	chr1:190063440-190063441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549970861	chr1:190063450-190063451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570153227	chr1:190063452-190063453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192868268	chr1:190063470-190063471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75428465	chr1:190063483-190063484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183024927	chr1:190063485-190063486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187744462	chr1:190063505-190063506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544662919	chr1:190063543-190063544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9651058	chr1:190063567-190063568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545995792	chr1:190063580-190063581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192308612	chr1:190063613-190063614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568240738	chr1:190063617-190063618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576090714	chr1:190063646-190063647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184738987	chr1:190063703-190063704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561390035	chr1:190063811-190063812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527978918	chr1:190063815-190063816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187511135	chr1:190063845-190063846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12128625	chr1:190063860-190063861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569119254	chr1:190063943-190063944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58053789	chr1:190063956-190063957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550351395	chr1:190063962-190063963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199578455	chr1:190063975-190063976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140338426	chr1:190063977-190063978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565035882	chr1:190063978-190063979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs68089128	chr1:190063979-190063980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529426258	chr1:190063993-190063994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34682446	chr1:190063994-190063995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376517103	chr1:190063995-190063996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369195596	chr1:190063997-190063998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373414757	chr1:190063999-190064000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376099802	chr1:190064001-190064002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192771492	chr1:190064012-190064013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566107596	chr1:190064024-190064025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534063367	chr1:190064029-190064030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554072776	chr1:190064042-190064043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149407264	chr1:190064097-190064098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539211975	chr1:190064108-190064109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556333269	chr1:190064137-190064138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1418811	chr1:190064165-190064166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1418810	chr1:190064217-190064218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577977897	chr1:190064238-190064239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74980753	chr1:190064267-190064268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369154053	chr1:190064274-190064275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540645564	chr1:190064302-190064303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190063000-190067200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:190063200-190065000	Weak transcription	Fetal Intestine Large	intestine
3	chr1:190065000-190065200	Enhancers	Fetal Intestine Large	intestine
4	chr1:190065200-190067200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:190065400-190067000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:190066400-190068800	Weak transcription	Colonic Mucosa	Colon
7	chr1:190067000-190068000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:190067000-190068000	Enhancers	HepG2	liver
9	chr1:190067200-190068200	Strong transcription	Fetal Intestine Large	intestine
10	chr1:190067200-190068200	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr1:190068000-190068200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:190068000-190071800	Weak transcription	HepG2	liver
13	chr1:190068000-190085600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:190068200-190069200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:190068200-190079400	Weak transcription	Fetal Intestine Large	intestine
16	chr1:190071400-190072200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:190071800-190072800	Enhancers	HepG2	liver
18	chr1:190072200-190073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:190073200-190073400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:190073800-190074800	Enhancers	Fetal Heart	heart
21	chr1:190074200-190074800	Enhancers	Brain Anterior Caudate	brain
22	chr1:190074200-190074800	Enhancers	Fetal Lung	lung
23	chr1:190084800-190086200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:190086000-190086400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:190086000-190086400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:190086200-190087200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:190086400-190087600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:190086400-190087600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:190087200-190088000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:190087600-190087800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:190087600-190088000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:190087600-190088200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:190087800-190088000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:190088000-190091400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:190088200-190088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:190088600-190089200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:190091400-190092600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:190094600-190095000	Enhancers	HUVEC	blood vessel
39	chr1:190094800-190095200	Enhancers	Brain Substantia Nigra	brain
40	chr1:190094800-190095400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr1:190094800-190095800	Enhancers	Brain Hippocampus Middle	brain
42	chr1:190095000-190095600	Enhancers	Brain Anterior Caudate	brain
43	chr1:190095200-190098600	Weak transcription	Brain Substantia Nigra	brain
44	chr1:190095400-190098400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:190095600-190098600	Weak transcription	Brain Anterior Caudate	brain
46	chr1:190095800-190096200	Enhancers	A549	lung
47	chr1:190095800-190098600	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:190098200-190098800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:190098400-190099000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr1:190098400-190099400	Enhancers	Cortex derived primary cultured neurospheres	brain

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