Variant report

Variant	nsv1012211
Chromosome Location	chr1:191236517-191382499
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191245868..191248178-chr1:191250282..191252170,2	K562	blood:
2	chr1:191285545..191288478-chr1:191311947..191313590,2	MCF-7	breast:
3	chr1:191250975..191253394-chr1:191254576..191256855,3	K562	blood:
4	chr1:191235053..191236832-chr1:191299467..191301857,2	MCF-7	breast:
5	chr1:191287950..191289463-chr1:191291967..191294234,2	K562	blood:
6	chr1:191357719..191359865-chr1:191368131..191370717,2	K562	blood:
7	chr1:191357719..191359865-chr1:191368131..191370717,2	K562	blood:
8	chr1:191235053..191236832-chr1:191299467..191301857,2	MCF-7	breast:
9	chr1:191262328..191265076-chr1:191299134..191300928,2	K562	blood:
10	chr1:191332317..191334180-chr1:191337399..191339945,2	K562	blood:
11	chr1:191277227..191279088-chr1:191280511..191283131,2	K562	blood:
12	chr1:191334925..191337085-chr1:191337771..191340212,3	K562	blood:
13	chr1:191285545..191288478-chr1:191311947..191313590,2	MCF-7	breast:
14	chr1:191311585..191313743-chr1:191315163..191316847,2	K562	blood:
15	chr1:191371943..191373778-chr1:191427254..191429182,2	K562	blood:
16	chr1:191277227..191279088-chr1:191280511..191283131,2	K562	blood:
17	chr1:191287950..191289463-chr1:191291967..191294234,2	K562	blood:
18	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
19	chr1:191245868..191248178-chr1:191250282..191252170,2	K562	blood:
20	chr1:191262328..191265076-chr1:191299134..191300928,2	K562	blood:
21	chr1:191251451..191253394-chr1:191255335..191256855,2	K562	blood:
22	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
23	chr1:191311585..191313743-chr1:191315163..191316847,2	K562	blood:
24	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
25	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
26	chr1:191250975..191253394-chr1:191254576..191256855,3	K562	blood:
27	chr1:191251451..191253394-chr1:191255335..191256855,2	K562	blood:
28	chr1:191334925..191337085-chr1:191337771..191340212,3	K562	blood:
29	chr1:191332317..191334180-chr1:191337399..191339945,2	K562	blood:

No data

Extended variants
information (count: 1110 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1110 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528584276	chr1:191244625-191244626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118068894	chr1:191244628-191244629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565482493	chr1:191244649-191244650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530961115	chr1:191244679-191244680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536054260	chr1:191244683-191244684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150087577	chr1:191244778-191244779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558839706	chr1:191250436-191250437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188698787	chr1:191250543-191250544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544458183	chr1:191250570-191250571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556954385	chr1:191250719-191250720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181108848	chr1:191250781-191250782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144740216	chr1:191250793-191250794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78009172	chr1:191250796-191250797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530324714	chr1:191250801-191250802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184583107	chr1:191250833-191250834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545257882	chr1:191250841-191250842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565443924	chr1:191250852-191250853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531133115	chr1:191250860-191250861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138185945	chr1:191250883-191250884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567279907	chr1:191250923-191250924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190123562	chr1:191250924-191250925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376786796	chr1:191250938-191250939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142764779	chr1:191250991-191250992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563815750	chr1:191251055-191251056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146074742	chr1:191251097-191251098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181627652	chr1:191251122-191251123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187610837	chr1:191251147-191251148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558485879	chr1:191251169-191251170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569003105	chr1:191251197-191251198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537750708	chr1:191251198-191251199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191930397	chr1:191251218-191251219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111665287	chr1:191251227-191251228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369773835	chr1:191251268-191251269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139410511	chr1:191251273-191251274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536226889	chr1:191251285-191251286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370028768	chr1:191251292-191251293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553086637	chr1:191251317-191251318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79016723	chr1:191251334-191251335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181074756	chr1:191251350-191251351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141803375	chr1:191251416-191251417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150558635	chr1:191251455-191251456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544961978	chr1:191251457-191251458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561563031	chr1:191251512-191251513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529741101	chr1:191251590-191251591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546601437	chr1:191251633-191251634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80086453	chr1:191251660-191251661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112367604	chr1:191251661-191251662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111468628	chr1:191251680-191251681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116832133	chr1:191251709-191251710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184890663	chr1:191251748-191251749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung adenocarcinoma	21935476	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Parathyroid adenoma	20824076	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191244600-191244800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:191250400-191253600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:191252000-191252200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:191258800-191259800	Enhancers	Fetal Kidney	kidney
5	chr1:191259400-191260000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:191259400-191260000	Enhancers	Fetal Brain Male	brain
7	chr1:191259600-191260000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:191259600-191260200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:191259600-191260400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:191275800-191276400	ZNF genes & repeats	Dnd41	blood
11	chr1:191287000-191288000	Enhancers	Fetal Heart	heart
12	chr1:191289200-191289600	Enhancers	Dnd41	blood
13	chr1:191312600-191314000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:191312800-191313400	Enhancers	Placenta	Placenta
15	chr1:191312800-191313600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:191312800-191314000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:191320000-191320400	Enhancers	Esophagus	oesophagus
18	chr1:191334000-191334600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:191334200-191334600	Enhancers	K562	blood
20	chr1:191337800-191338600	Active TSS	Pancreas	Pancrea
21	chr1:191337800-191339600	Active TSS	K562	blood
22	chr1:191338000-191338200	Enhancers	Colon Smooth Muscle	Colon
23	chr1:191338000-191338600	Active TSS	Rectal Smooth Muscle	rectum
24	chr1:191338000-191339800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:191338200-191338400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:191338200-191338400	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:191338200-191338800	Active TSS	A549	lung
28	chr1:191338200-191339000	Active TSS	Colon Smooth Muscle	Colon
29	chr1:191338200-191339400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:191338200-191339600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:191338200-191339800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:191338400-191339200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:191338400-191339400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:191338400-191340600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:191338600-191339200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:191338600-191339600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:191338600-191340800	Weak transcription	Pancreas	Pancrea
38	chr1:191339000-191339200	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr1:191339000-191339800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:191339200-191339400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:191339200-191339400	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr1:191339200-191339600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:191339200-191340000	Enhancers	Colon Smooth Muscle	Colon
44	chr1:191339200-191340800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:191339400-191339600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:191339400-191339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:191339400-191340000	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:191339600-191340800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:191340000-191340400	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:191340000-191340400	Weak transcription	Rectal Smooth Muscle	rectum

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