Variant report

Variant	nsv917330
Chromosome Location	chr1:223141547-223225893
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:21)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223190305..223191926-chr1:223196099..223197954,2	K562	blood:
2	chr1:223207463..223209598-chr1:223292296..223294867,2	K562	blood:
3	chr1:223190301..223192365-chr1:223194147..223196886,3	MCF-7	breast:
4	chr1:223168965..223171171-chr1:223172792..223175286,3	MCF-7	breast:
5	chr1:223190301..223192365-chr1:223194147..223196886,3	MCF-7	breast:
6	chr1:223190305..223191926-chr1:223196099..223197954,2	K562	blood:
7	chr1:223139734..223142413-chr1:223144467..223146092,2	MCF-7	breast:
8	chr1:223174781..223178345-chr1:223180899..223184230,3	K562	blood:
9	chr1:223168013..223170513-chr1:223178406..223180207,2	MCF-7	breast:
10	chr1:223148178..223149697-chr1:223153499..223155798,2	MCF-7	breast:
11	chr1:223174781..223178345-chr1:223180899..223184230,3	K562	blood:
12	chr1:223204173..223206514-chr1:223207124..223209819,2	K562	blood:
13	chr1:223187874..223189640-chr1:223192469..223194098,2	MCF-7	breast:
14	chr1:223139734..223142413-chr1:223144467..223146092,2	MCF-7	breast:
15	chr1:223144142..223145952-chr1:223146468..223148708,2	K562	blood:
16	chr1:223204173..223206514-chr1:223207124..223209819,2	K562	blood:
17	chr1:223148178..223149697-chr1:223153499..223155798,2	MCF-7	breast:
18	chr1:223187874..223189640-chr1:223192469..223194098,2	MCF-7	breast:
19	chr1:223144142..223145952-chr1:223146468..223148708,2	K562	blood:
20	chr1:223168013..223170513-chr1:223178406..223180207,2	MCF-7	breast:
21	chr1:223168965..223171171-chr1:223172792..223175286,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DISP1-5	chr1:223213654-223213903	NONHSAT009724
2	lnc-TLR5-2	chr1:223193436-223193977	NONHSAT009723
3	lnc-TLR5-2	chr1:223187601-223188339	NONHSAT009723
4	lnc-TLR5-2	chr1:223190508-223191422	NONHSAT009723
5	lnc-DISP1-5	chr1:223222660-223223408	NONHSAT009724

No data

Extended variants
information (count: 3395 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3395 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565803124	chr1:223141553-223141554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528490369	chr1:223141567-223141568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373830631	chr1:223141600-223141601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577231159	chr1:223141658-223141659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184288303	chr1:223141675-223141676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534223738	chr1:223141684-223141685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117564249	chr1:223141732-223141733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548158785	chr1:223141821-223141822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568450839	chr1:223141837-223141838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571918718	chr1:223141855-223141856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115612591	chr1:223141863-223141864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560845607	chr1:223141881-223141882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531536613	chr1:223141898-223141899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549736181	chr1:223142074-223142075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564744067	chr1:223142125-223142126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532206644	chr1:223142143-223142144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547182117	chr1:223142183-223142184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566239973	chr1:223142189-223142190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143538553	chr1:223142190-223142191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548825782	chr1:223142227-223142228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570346002	chr1:223142256-223142257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76910133	chr1:223142284-223142285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557582618	chr1:223142286-223142287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189650144	chr1:223142358-223142359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181181286	chr1:223142366-223142367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577172168	chr1:223142392-223142393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374139010	chr1:223142397-223142398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535076691	chr1:223142422-223142423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184083458	chr1:223142440-223142441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148071351	chr1:223142463-223142464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542391852	chr1:223142489-223142490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189207597	chr1:223142511-223142512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4509582	chr1:223142524-223142525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181589764	chr1:223142572-223142573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150576588	chr1:223142623-223142624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141408094	chr1:223142635-223142636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532022234	chr1:223142682-223142683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186446840	chr1:223142698-223142699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374346572	chr1:223142713-223142714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71178518	chr1:223142729-223142730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370708332	chr1:223142730-223142731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140762826	chr1:223142731-223142732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374517900	chr1:223142737-223142738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192121081	chr1:223142783-223142784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529847080	chr1:223142797-223142798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180914337	chr1:223142994-223142995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548497762	chr1:223143006-223143007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570282799	chr1:223143030-223143031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72742255	chr1:223143031-223143032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552603163	chr1:223143036-223143037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	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
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:1558 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223129600-223143200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:223131400-223143400	Weak transcription	Fetal Lung	lung
3	chr1:223138200-223147000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:223139400-223143400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:223140000-223147800	Weak transcription	Fetal Kidney	kidney
6	chr1:223142800-223145400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:223143200-223145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:223143400-223143600	Active TSS	Ovary	ovary
9	chr1:223143400-223143600	Enhancers	Right Atrium	heart
10	chr1:223143400-223143800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:223143400-223143800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:223143400-223143800	Enhancers	Fetal Lung	lung
13	chr1:223143400-223144000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:223143400-223144400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:223143400-223144800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:223143400-223146200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:223143600-223143800	Flanking Active TSS	Ovary	ovary
18	chr1:223143600-223145200	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:223143600-223149200	Weak transcription	Right Atrium	heart
20	chr1:223143800-223144000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:223143800-223144200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:223143800-223148000	Weak transcription	Ovary	ovary
23	chr1:223143800-223148800	Weak transcription	Fetal Lung	lung
24	chr1:223144200-223165400	Weak transcription	Left Ventricle	heart
25	chr1:223144800-223147200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:223145200-223147000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:223145400-223145800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:223145400-223146000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:223145800-223146000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:223146000-223146200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:223146000-223147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:223146200-223147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:223147000-223147200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:223147000-223147200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:223147000-223147800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:223147000-223147800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:223147000-223148200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:223147000-223148800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:223147000-223149800	Enhancers	Colon Smooth Muscle	Colon
40	chr1:223147000-223150200	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:223147000-223150400	Enhancers	NHDF-Ad	bronchial
42	chr1:223147000-223150600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:223147000-223175800	Weak transcription	Aorta	Aorta
44	chr1:223147200-223147800	Enhancers	NHLF	lung
45	chr1:223147200-223148400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:223147200-223149800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:223147200-223150400	Enhancers	Osteobl	bone
48	chr1:223147400-223148200	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:223147400-223148400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:223147400-223150000	Enhancers	NH-A	brain

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