Variant report

Variant	nsv518321
Chromosome Location	chr1:222053234-222055403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222047877..222050005-chr1:222054985..222056926,2	MCF-7	breast:
2	chr1:221915716..221917980-chr1:222052338..222055276,2	MCF-7	breast:
3	chr1:222054959..222056987-chr1:222068819..222070435,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUSP10-3	chr1:222054323-222054626	XLOC_001214

Variant related genes	Relation type
IP6K1	miRNA target sites

Extended variants
information (count: 99 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11118882	chr1:222053234-222053235	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184809789	chr1:222053334-222053335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544310468	chr1:222053349-222053350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562428332	chr1:222053359-222053360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570036269	chr1:222053374-222053375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539354736	chr1:222053383-222053384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551282211	chr1:222053388-222053389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143904878	chr1:222053392-222053393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566796191	chr1:222053395-222053396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146501575	chr1:222053406-222053407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559324917	chr1:222053457-222053458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139260092	chr1:222053513-222053514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567347336	chr1:222053572-222053573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199637379	chr1:222053584-222053585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12568061	chr1:222053611-222053612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571631400	chr1:222053630-222053631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539268511	chr1:222053656-222053657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60796293	chr1:222053662-222053663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572631660	chr1:222053757-222053758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543347316	chr1:222053759-222053760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189209162	chr1:222053780-222053781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541692434	chr1:222053782-222053783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573713551	chr1:222053787-222053788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150905614	chr1:222053796-222053797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72738502	chr1:222053807-222053808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532875677	chr1:222053859-222053860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545046259	chr1:222053909-222053910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374054735	chr1:222053933-222053934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559916797	chr1:222053935-222053936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180887464	chr1:222053949-222053950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548882631	chr1:222053973-222053974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567210116	chr1:222053994-222053995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74145000	chr1:222054013-222054014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549905707	chr1:222054028-222054029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139410176	chr1:222054035-222054036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199508032	chr1:222054102-222054103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144913050	chr1:222054105-222054106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534254459	chr1:222054107-222054108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376039253	chr1:222054108-222054109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538768100	chr1:222054113-222054114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201902016	chr1:222054116-222054117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564259189	chr1:222054129-222054130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530163244	chr1:222054173-222054174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114074389	chr1:222054182-222054183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536824977	chr1:222054183-222054184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555330487	chr1:222054189-222054190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116797016	chr1:222054243-222054244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7340042	chr1:222054304-222054305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185785481	chr1:222054389-222054390	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs577517016	chr1:222054399-222054400	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222047800-222054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:222048600-222073600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:222048800-222060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:222050400-222054000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:222051000-222053800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:222051000-222056000	Enhancers	NHDF-Ad	bronchial
7	chr1:222051400-222054000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:222051400-222054000	Enhancers	Osteobl	bone
9	chr1:222051400-222054600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:222051600-222055800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:222051800-222053400	Enhancers	NHLF	lung
12	chr1:222052000-222054200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:222052400-222055000	Enhancers	Adipose Nuclei	Adipose
14	chr1:222052400-222059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:222052600-222058600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:222052800-222055400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:222053000-222054000	Weak transcription	Fetal Lung	lung
18	chr1:222053000-222054400	Weak transcription	Ovary	ovary
19	chr1:222053000-222058000	Weak transcription	Psoas Muscle	Psoas
20	chr1:222053000-222058400	Weak transcription	HSMM	muscle
21	chr1:222053000-222059200	Weak transcription	HMEC	breast
22	chr1:222053000-222059600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:222053000-222059600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:222053000-222060200	Weak transcription	HSMMtube	muscle
25	chr1:222053000-222060400	Weak transcription	Aorta	Aorta
26	chr1:222053800-222056800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:222054000-222054800	Enhancers	Fetal Lung	lung
28	chr1:222054000-222055200	Weak transcription	Osteobl	bone
29	chr1:222054000-222055400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:222054000-222058600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:222054200-222055000	Enhancers	HUVEC	blood vessel
32	chr1:222054200-222059400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:222054400-222054600	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:222054400-222055400	Enhancers	Ovary	ovary
35	chr1:222054600-222054800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:222054600-222059400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:222055000-222059400	Weak transcription	Adipose Nuclei	Adipose
38	chr1:222055200-222056000	Enhancers	Osteobl	bone
39	chr1:222055400-222055800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:222055400-222059800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:222055400-222060400	Weak transcription	Ovary	ovary

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