Variant report

Variant	nsv467350
Chromosome Location	chr1:195950283-195991633
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
2	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
3	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
4	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
5	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
6	chr1:195954938..195957101-chr1:195959563..195962139,2	K562	blood:
7	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
8	chr1:195954938..195957101-chr1:195959563..195962139,2	K562	blood:
9	chr1:195935419..195938367-chr1:195956376..195957962,2	K562	blood:
10	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
11	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
12	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:
13	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
14	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:
15	chr1:195941539..195944213-chr1:195949780..195952268,2	K562	blood:
16	chr1:195988890..195990860-chr1:195993598..195995590,2	K562	blood:
17	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:

No data

Extended variants
information (count: 555 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1376816	chr1:195950283-195950284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141622862	chr1:195950285-195950286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184553174	chr1:195950295-195950296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558067495	chr1:195950307-195950308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572856694	chr1:195950382-195950383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533820309	chr1:195950454-195950455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555494330	chr1:195950472-195950473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76850825	chr1:195950555-195950556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556080878	chr1:195950562-195950563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573739499	chr1:195950580-195950581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577767110	chr1:195950650-195950651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544314287	chr1:195950669-195950670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562903411	chr1:195950697-195950698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535919687	chr1:195950795-195950796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578148496	chr1:195950820-195950821	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544035660	chr1:195950844-195950845	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188951673	chr1:195950877-195950878	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556336790	chr1:195950882-195950883	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181416843	chr1:195950883-195950884	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372744071	chr1:195950897-195950898	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111835297	chr1:195950960-195950961	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560949522	chr1:195950962-195950963	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531685641	chr1:195950974-195950975	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550264891	chr1:195951003-195951004	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs568942977	chr1:195951070-195951071	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs61820405	chr1:195951106-195951107	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565335247	chr1:195951141-195951142	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566815931	chr1:195951156-195951157	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs143283903	chr1:195951186-195951187	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555357234	chr1:195951239-195951240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17686400	chr1:195951286-195951287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540524038	chr1:195951314-195951315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540749049	chr1:195951315-195951316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184063819	chr1:195951340-195951341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189951563	chr1:195951365-195951366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578108122	chr1:195951385-195951386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181212702	chr1:195951386-195951387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578162165	chr1:195951512-195951513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374716187	chr1:195951550-195951551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76244539	chr1:195951551-195951552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542937761	chr1:195951558-195951559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562039747	chr1:195951567-195951568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560912974	chr1:195951583-195951584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531766852	chr1:195951619-195951620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186237952	chr1:195951659-195951660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147516570	chr1:195951672-195951673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111366369	chr1:195951693-195951694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574117401	chr1:195951726-195951727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1037388	chr1:195951781-195951782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566678354	chr1:195951831-195951832	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195949200-195950600	Weak transcription	NHEK	skin
2	chr1:195949400-195950600	Weak transcription	HMEC	breast
3	chr1:195949400-195950800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:195950000-195950800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:195950600-195951400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:195950600-195951400	Enhancers	HMEC	breast
7	chr1:195950600-195952000	Enhancers	NHEK	skin
8	chr1:195950800-195951200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:195950800-195951200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:195950800-195951800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:195951200-195951800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:195964800-195965200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:195967200-195971200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:195968600-195969000	Enhancers	Esophagus	oesophagus
15	chr1:195969000-195971000	Weak transcription	Esophagus	oesophagus
16	chr1:195969000-195972000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:195970000-195972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:195970000-195972200	Enhancers	Placenta	Placenta
19	chr1:195970200-195973000	Enhancers	NHEK	skin
20	chr1:195970400-195970600	Enhancers	HMEC	breast
21	chr1:195970400-195972600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:195970600-195971600	Weak transcription	HMEC	breast
23	chr1:195970800-195972600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:195971000-195971200	Enhancers	Esophagus	oesophagus
25	chr1:195971200-195971600	Weak transcription	Esophagus	oesophagus
26	chr1:195971200-195972800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:195971200-195973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:195971600-195972200	Enhancers	Esophagus	oesophagus
29	chr1:195971600-195972600	Enhancers	HMEC	breast
30	chr1:195971600-195973600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:195971600-195973800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:195972000-195972200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:195972000-195972400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:195972000-195973400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:195972200-195972600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:195972200-195973200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:195972200-195974000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:195972200-195975200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:195972600-195973600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:195972800-195973600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr1:195973200-195973800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:195973400-195974600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:195973600-195974000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:195973600-195974600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:195973600-195974600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:195973800-195974400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:195973800-195974600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:195974000-195974400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:195974400-195975000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:195974400-195975200	Enhancers	HUES64 Cell Line	embryonic stem cell

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