Variant report

Variant	nsv467361
Chromosome Location	chr1:195973287-196003775
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
2	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
3	chr1:195988890..195990860-chr1:195993598..195995590,2	K562	blood:
4	chr1:196001222..196002860-chr1:196004252..196007155,2	K562	blood:
5	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
6	chr1:195993999..195996870-chr1:195997208..196000349,3	K562	blood:
7	chr1:195988890..195990860-chr1:195993598..195995590,2	K562	blood:
8	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
9	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
10	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
11	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:
12	chr1:195908810..195909713-chr1:195998289..195999101,3	MCF-7	breast:
13	chr1:195993999..195996870-chr1:195997208..196000349,3	K562	blood:

No data

Extended variants
information (count: 413 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1451911	chr1:195973287-195973288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs193044225	chr1:195973288-195973289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372367422	chr1:195973296-195973297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72744177	chr1:195973302-195973303	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546153328	chr1:195973306-195973307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564351540	chr1:195973318-195973319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73076757	chr1:195973343-195973344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548566588	chr1:195973358-195973359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546731449	chr1:195973359-195973360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12141824	chr1:195973410-195973411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541179784	chr1:195973436-195973437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184864479	chr1:195973497-195973498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559119523	chr1:195973516-195973517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112356490	chr1:195973548-195973549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371893972	chr1:195973655-195973656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528775802	chr1:195973658-195973659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547989368	chr1:195973660-195973661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569898106	chr1:195973708-195973709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375047419	chr1:195973782-195973783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536965311	chr1:195973821-195973822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552129152	chr1:195973827-195973828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570386797	chr1:195973856-195973857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553148913	chr1:195973867-195973868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192656159	chr1:195973881-195973882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536024929	chr1:195973888-195973889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183938861	chr1:195973896-195973897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575872109	chr1:195973911-195973912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188268994	chr1:195973912-195973913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564498265	chr1:195973915-195973916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35752388	chr1:195973917-195973918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572950936	chr1:195973918-195973919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181929000	chr1:195973923-195973924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561804385	chr1:195973936-195973937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186298920	chr1:195973950-195973951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548335071	chr1:195973960-195973961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547349694	chr1:195974014-195974015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568472021	chr1:195974050-195974051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112962938	chr1:195974055-195974056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559628132	chr1:195974125-195974126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374983691	chr1:195974144-195974145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530318000	chr1:195974174-195974175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542259096	chr1:195974180-195974181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202214932	chr1:195974212-195974213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12116471	chr1:195974225-195974226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147005626	chr1:195974236-195974237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535572511	chr1:195974248-195974249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190042587	chr1:195974259-195974260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569393985	chr1:195974269-195974270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540124568	chr1:195974287-195974288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35666261	chr1:195974289-195974290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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	22037309	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195971200-195973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:195971600-195973600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:195971600-195973800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:195972000-195973400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:195972200-195974000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:195972200-195975200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:195972600-195973600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:195972800-195973600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:195973200-195973800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:195973400-195974600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:195973600-195974000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:195973600-195974600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:195973600-195974600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:195973800-195974400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:195973800-195974600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:195974000-195974400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:195974400-195975000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:195974400-195975200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:195974600-195974800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:195974600-195975000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:195974600-195975000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:195974600-195975800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:195976600-195977400	Enhancers	Liver	Liver
24	chr1:195976600-195977400	Enhancers	HepG2	liver
25	chr1:195987200-195987800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:195987800-195988800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:195988400-195988800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:195990000-195990400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:195990000-195990400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:195990000-195990400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:195999200-195999400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:195999200-195999600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:195999200-195999600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:195999200-195999600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:195999200-195999600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:195999200-195999600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:195999200-195999600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:195999400-195999600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:195999600-196002600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:195999600-196002800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:195999600-196003000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:195999600-196003000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:195999600-196003000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:196000000-196002400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:196001400-196001600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:196002400-196003000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:196002600-196003600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:196002600-196004800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:196002800-196003000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:196002800-196004400	Enhancers	HUES64 Cell Line	embryonic stem cell

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