Variant report

Variant	nsv833026
Chromosome Location	chr1:238806120-238928897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:237455641..237458484-chr1:238814829..238816931,2	K562	blood:
2	chr1:238808610..238810807-chr1:238811641..238813237,2	K562	blood:
3	chr1:238806148..238807904-chr1:238810691..238812275,2	K562	blood:
4	chr1:238806148..238807904-chr1:238810691..238812275,2	K562	blood:
5	chr1:238924632..238926613-chr1:238938949..238941109,2	K562	blood:
6	chr1:238808610..238810807-chr1:238811641..238813237,2	K562	blood:

Extended variants
information (count: 1496 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1496 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181605380	chr1:238806135-238806136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185727522	chr1:238806147-238806148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546546979	chr1:238806156-238806157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200303295	chr1:238806207-238806208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188876965	chr1:238806293-238806294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534150123	chr1:238806309-238806310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532395857	chr1:238806320-238806321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34734472	chr1:238806333-238806334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550882410	chr1:238806341-238806342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113426013	chr1:238806363-238806364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139799066	chr1:238806370-238806371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536428656	chr1:238806425-238806426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181495610	chr1:238806475-238806476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567730265	chr1:238806487-238806488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534830529	chr1:238806491-238806492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375283744	chr1:238806549-238806550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186328547	chr1:238806553-238806554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577969980	chr1:238806600-238806601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191179663	chr1:238806610-238806611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180708774	chr1:238806648-238806649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186453153	chr1:238806667-238806668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566430609	chr1:238806705-238806706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542798818	chr1:238806708-238806709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12078080	chr1:238806777-238806778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558976336	chr1:238806811-238806812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528140345	chr1:238806856-238806857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539961715	chr1:238806871-238806872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143930423	chr1:238806883-238806884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369917217	chr1:238806958-238806959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532006199	chr1:238806967-238806968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143648254	chr1:238807049-238807050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538933499	chr1:238807120-238807121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375597595	chr1:238807163-238807164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530029302	chr1:238807181-238807182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377759129	chr1:238807336-238807337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548379103	chr1:238807394-238807395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146389575	chr1:238807436-238807437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535079031	chr1:238807440-238807441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553185050	chr1:238807467-238807468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371245628	chr1:238807487-238807488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375902127	chr1:238807502-238807503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571760403	chr1:238807505-238807506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34880814	chr1:238807512-238807513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190932496	chr1:238807522-238807523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538634482	chr1:238807540-238807541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556972444	chr1:238807579-238807580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575499580	chr1:238807607-238807608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542915688	chr1:238807611-238807612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12094645	chr1:238807626-238807627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79549334	chr1:238807638-238807639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:238805600-238806200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:238805600-238806200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:238805800-238806400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:238805800-238806400	Enhancers	HSMM	muscle
5	chr1:238806000-238810400	Weak transcription	NH-A	brain
6	chr1:238806200-238810200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:238806200-238810400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:238806400-238810000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:238806400-238810400	Weak transcription	HSMM	muscle
10	chr1:238808000-238816800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:238808800-238812800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:238809200-238809400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:238809200-238809400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:238809200-238809600	Enhancers	A549	lung
15	chr1:238809400-238810000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:238809400-238812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:238809600-238809800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:238809600-238811400	Weak transcription	A549	lung
19	chr1:238809800-238810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:238810000-238810600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:238810000-238811600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:238810200-238810400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:238810200-238810400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:238810200-238811600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:238810200-238811800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:238810200-238812400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:238810200-238812400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:238810200-238812800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:238810200-238812800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:238810200-238813400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:238810400-238810800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:238810400-238810800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:238810400-238811200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:238810400-238811400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:238810400-238811400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:238810400-238811600	Enhancers	HSMMtube	muscle
37	chr1:238810400-238812400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:238810400-238812400	Enhancers	HSMM	muscle
39	chr1:238810400-238812400	Enhancers	Osteobl	bone
40	chr1:238810400-238812800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:238810400-238812800	Enhancers	NH-A	brain
42	chr1:238810600-238811000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:238810600-238811200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:238810600-238811400	Enhancers	Fetal Kidney	kidney
45	chr1:238810600-238812000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:238810600-238812200	Enhancers	HMEC	breast
47	chr1:238810600-238812600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:238810800-238811000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:238810800-238811200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:238810800-238812800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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