Variant report

Variant	nsv1001119
Chromosome Location	chr1:189191637-189350094
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:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189275886..189277793-chr1:189279568..189282291,2	K562	blood:
2	chr1:188973723..188976058-chr1:189233583..189235147,2	K562	blood:
3	chr1:189236800..189238519-chr1:189240063..189242886,2	MCF-7	breast:
4	chr1:189279417..189281785-chr1:189284231..189287142,2	MCF-7	breast:
5	chr1:189248572..189251429-chr1:189254137..189256255,2	MCF-7	breast:
6	chr1:189272043..189274653-chr1:189278886..189280398,2	MCF-7	breast:
7	chr1:189248572..189251429-chr1:189254137..189256255,2	MCF-7	breast:
8	chr1:189275475..189276987-chr1:189302090..189304788,2	K562	blood:
9	chr1:189240516..189243229-chr1:189245624..189247512,2	K562	blood:
10	chr1:89355507..89357311-chr1:189270012..189271532,3	K562	blood:
11	chr1:189241863..189244063-chr1:189280100..189282823,2	K562	blood:
12	chr1:189205219..189208075-chr1:189212130..189213812,2	K562	blood:
13	chr1:189236800..189238519-chr1:189240063..189242886,2	MCF-7	breast:
14	chr1:189279417..189281785-chr1:189284231..189287142,2	MCF-7	breast:
15	chr1:189170367..189172924-chr1:189189578..189192081,2	K562	blood:
16	chr1:189249441..189251122-chr1:189253559..189256297,2	K562	blood:
17	chr1:189240516..189243229-chr1:189245624..189247512,2	K562	blood:
18	chr1:189275475..189276987-chr1:189302090..189304788,2	K562	blood:
19	chr1:189275886..189277793-chr1:189279568..189282291,2	K562	blood:
20	chr1:189118996..189121109-chr1:189287929..189290792,2	K562	blood:
21	chr1:189205219..189208075-chr1:189212130..189213812,2	K562	blood:
22	chr1:89356053..89357685-chr1:189270012..189271532,2	MCF-7	breast:
23	chr1:189249441..189251122-chr1:189253559..189256297,2	K562	blood:
24	chr1:189272043..189274653-chr1:189278886..189280398,2	MCF-7	breast:
25	chr1:189241863..189244063-chr1:189280100..189282823,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-7	chr1:189276860-189277008	NONHSAT008484

No data

Variant related genes	Relation type
ENSG00000137947	chromatin interactions

Extended variants
information (count: 883 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546798206	chr1:189194022-189194023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113077477	chr1:189194080-189194081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376567118	chr1:189194119-189194120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs537587146	chr1:189194123-189194124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs555144350	chr1:189194127-189194128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs12134517	chr1:189194131-189194132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534465546	chr1:189194135-189194136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554522216	chr1:189194140-189194141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188359445	chr1:189194183-189194184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546202704	chr1:189194192-189194193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191654507	chr1:189194237-189194238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112898179	chr1:189194255-189194256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372444069	chr1:189194259-189194260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376701224	chr1:189194275-189194276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541960991	chr1:189194283-189194284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561093490	chr1:189194308-189194309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369020626	chr1:189194309-189194310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs184207039	chr1:189194332-189194333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557418407	chr1:189194355-189194356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530396959	chr1:189194377-189194378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs532309540	chr1:189194382-189194383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551749416	chr1:189194436-189194437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573079113	chr1:189194444-189194445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189798535	chr1:189194445-189194446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs182177495	chr1:189194453-189194454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187134912	chr1:189194456-189194457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190753461	chr1:189194457-189194458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576401152	chr1:189194464-189194465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111394973	chr1:189194477-189194478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs142499625	chr1:189194489-189194490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571150022	chr1:189194494-189194495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540180546	chr1:189194509-189194510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs556548723	chr1:189194514-189194515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs576368621	chr1:189194523-189194524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113447917	chr1:189194564-189194565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558672121	chr1:189194572-189194573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs184946579	chr1:189194582-189194583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572528697	chr1:189194595-189194596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189760662	chr1:189194608-189194609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs540025101	chr1:189194610-189194611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs369118826	chr1:189194626-189194627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576724184	chr1:189194640-189194641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs377159803	chr1:189194642-189194643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs562466909	chr1:189194646-189194647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531226326	chr1:189194647-189194648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548242503	chr1:189194665-189194666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181046254	chr1:189194678-189194679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs527421969	chr1:189194742-189194743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548005842	chr1:189194749-189194750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571056848	chr1:189194762-189194763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	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
Breast cancer	17899364	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189194000-189194800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:189194600-189194800	ZNF genes & repeats	Gastric	stomach
3	chr1:189196000-189196400	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr1:189237000-189237200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr1:189237000-189237400	ZNF genes & repeats	Liver	Liver
6	chr1:189237200-189237800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr1:189237200-189238800	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr1:189280800-189281600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:189281000-189281200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:189281000-189281200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:189281000-189281400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:189281000-189282200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:189281000-189283400	Enhancers	K562	blood
14	chr1:189281200-189281600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:189281200-189282200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:189281400-189281600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:189281400-189281800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:189281400-189282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:189281400-189283000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:189281600-189282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:189281600-189283600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:189281600-189284600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:189281800-189282400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:189281800-189283000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:189281800-189283000	Enhancers	Liver	Liver
26	chr1:189282200-189283600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:189282200-189284800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:189282400-189282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:189282400-189283200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:189282400-189285200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:189282600-189285000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:189282600-189285400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:189282600-189285400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:189282800-189283000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:189283000-189283400	Weak transcription	Liver	Liver
36	chr1:189283000-189284200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:189283000-189285000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:189283200-189285000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:189283200-189285200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:189283400-189285400	Enhancers	Liver	Liver
41	chr1:189283600-189284000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:189283600-189285400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:189284000-189285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:189284200-189285400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:189284400-189285000	Enhancers	Brain Germinal Matrix	brain
46	chr1:189284600-189285400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:189284800-189285800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:189285000-189285400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:189285000-189285800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:189285000-189287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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