Variant report

Variant	nsv549124
Chromosome Location	chr1:211069694-211088474
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211079490..211081106-chr1:211190726..211193541,2	K562	blood:
2	chr1:211069010..211070968-chr1:211071970..211074084,2	K562	blood:
3	chr1:211066382..211068905-chr1:211069492..211072195,2	K562	blood:
4	chr1:211070734..211072894-chr1:211089401..211091123,2	K562	blood:
5	chr1:211068269..211070405-chr1:211089672..211092278,2	K562	blood:
6	chr1:211081640..211084385-chr1:211086454..211088372,2	K562	blood:
7	chr1:210628672..210630917-chr1:211075753..211078223,2	K562	blood:
8	chr1:211081640..211084626-chr1:211086454..211089760,4	K562	blood:
9	chr1:211069010..211070968-chr1:211071970..211074084,2	K562	blood:
10	chr1:211081640..211084385-chr1:211086454..211088372,2	K562	blood:
11	chr1:211085731..211087524-chr1:211090646..211093689,3	K562	blood:
12	chr1:211084542..211086071-chr1:211091285..211093139,2	MCF-7	breast:
13	chr1:211081640..211084626-chr1:211086454..211089760,4	K562	blood:

No data

Extended variants
information (count: 715 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7552646	chr1:211069694-211069695	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72757554	chr1:211069714-211069715	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78495532	chr1:211069717-211069718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189515294	chr1:211069765-211069766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182421912	chr1:211069820-211069821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546341962	chr1:211069821-211069822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185755974	chr1:211069836-211069837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576512405	chr1:211069839-211069840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543790739	chr1:211069930-211069931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561005219	chr1:211070002-211070003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191105323	chr1:211070031-211070032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534109152	chr1:211070037-211070038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548116409	chr1:211070085-211070086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528468193	chr1:211070097-211070098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560308603	chr1:211070152-211070153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536644530	chr1:211070155-211070156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368099959	chr1:211070182-211070183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181151993	chr1:211070308-211070309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551866375	chr1:211070326-211070327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115952511	chr1:211070330-211070331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137894390	chr1:211070365-211070366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573634853	chr1:211070411-211070412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370721639	chr1:211070443-211070444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78411078	chr1:211070486-211070487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77840560	chr1:211070521-211070522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185832470	chr1:211070632-211070633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572680929	chr1:211070669-211070670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539997617	chr1:211070703-211070704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567292845	chr1:211070705-211070706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537914582	chr1:211070744-211070745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190546130	chr1:211070761-211070762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183192524	chr1:211070789-211070790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562095064	chr1:211070795-211070796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17017024	chr1:211070861-211070862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs542127478	chr1:211070865-211070866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559978086	chr1:211070907-211070908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527525282	chr1:211070940-211070941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551953475	chr1:211070955-211070956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75023092	chr1:211070965-211070966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556226491	chr1:211071010-211071011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531292046	chr1:211071029-211071030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549577761	chr1:211071032-211071033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34931401	chr1:211071055-211071056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187862693	chr1:211071066-211071067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191826447	chr1:211071098-211071099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548077778	chr1:211071129-211071130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566366590	chr1:211071148-211071149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540085916	chr1:211071185-211071186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140825737	chr1:211071201-211071202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144594452	chr1:211071202-211071203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211056800-211078800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:211058400-211077400	Weak transcription	HSMMtube	muscle
3	chr1:211068400-211069800	Strong transcription	HSMM	muscle
4	chr1:211068400-211078000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:211069000-211079400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:211069800-211070400	Weak transcription	HSMM	muscle
7	chr1:211070400-211070600	Strong transcription	HSMM	muscle
8	chr1:211070600-211078200	Weak transcription	HSMM	muscle
9	chr1:211072200-211074200	Enhancers	Liver	Liver
10	chr1:211072400-211072600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:211072600-211073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:211073400-211074200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:211073400-211074400	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:211073600-211073800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:211073600-211074400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:211073800-211074400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:211073800-211074600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:211073800-211074600	Enhancers	Brain Angular Gyrus	brain
19	chr1:211073800-211074800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:211074400-211074800	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:211074400-211076200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:211074400-211078800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:211074600-211074800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:211074600-211075600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:211074600-211077000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:211074800-211075000	Enhancers	Brain Hippocampus Middle	brain
27	chr1:211074800-211075600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:211074800-211076000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:211075000-211077000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:211075600-211075800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:211075600-211077600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:211075800-211080600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:211076000-211077400	Enhancers	Brain Substantia Nigra	brain
34	chr1:211076000-211080400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:211076200-211080000	Enhancers	Brain Cingulate Gyrus	brain
36	chr1:211077000-211080000	Enhancers	Brain Angular Gyrus	brain
37	chr1:211077000-211083000	Enhancers	Brain Hippocampus Middle	brain
38	chr1:211077200-211077400	Enhancers	Brain Anterior Caudate	brain
39	chr1:211077400-211078000	Enhancers	HSMMtube	muscle
40	chr1:211077400-211078400	Weak transcription	Brain Substantia Nigra	brain
41	chr1:211077600-211077800	Enhancers	Fetal Heart	heart
42	chr1:211077600-211078000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:211077600-211078800	Weak transcription	Brain Anterior Caudate	brain
44	chr1:211078000-211078200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:211078000-211078800	Weak transcription	HSMMtube	muscle
46	chr1:211078000-211079200	Weak transcription	Fetal Heart	heart
47	chr1:211078000-211079400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:211078200-211078600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:211078200-211078600	Strong transcription	HSMM	muscle
50	chr1:211078400-211083000	Enhancers	Brain Substantia Nigra	brain

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