Variant report

Variant	nsv999005
Chromosome Location	chr1:195825370-195874907
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
2	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
3	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
4	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
5	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
6	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:
7	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
8	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
9	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
10	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
11	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
12	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
13	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
14	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
15	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
16	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
17	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
18	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
19	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
20	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
21	chr1:195793131..195796113-chr1:195827514..195829536,2	K562	blood:
22	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
23	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
24	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
25	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
26	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
27	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
28	chr1:195868249..195869806-chr1:196117660..196119687,2	K562	blood:
29	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
30	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
31	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
32	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
33	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
34	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
35	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
36	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
37	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
38	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:
39	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
40	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
41	chr1:195799469..195802438-chr1:195824190..195826627,2	K562	blood:
42	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
43	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
44	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:

No data

Extended variants
information (count: 1161 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544361318	chr1:195825399-195825400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568274417	chr1:195825403-195825404	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556779180	chr1:195825413-195825414	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534709625	chr1:195825422-195825423	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536068565	chr1:195825444-195825445	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141596471	chr1:195825515-195825516	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61820610	chr1:195825537-195825538	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs61820611	chr1:195825558-195825559	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542606051	chr1:195825575-195825576	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560992933	chr1:195825578-195825579	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35172199	chr1:195825604-195825605	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147034558	chr1:195825614-195825615	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116665711	chr1:195825645-195825646	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34167524	chr1:195825663-195825664	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35278954	chr1:195825713-195825714	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201957511	chr1:195825717-195825718	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566604217	chr1:195825726-195825727	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71871325	chr1:195825732-195825733	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71154708	chr1:195825733-195825734	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76903815	chr1:195825739-195825740	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201030051	chr1:195825753-195825754	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376931668	chr1:195825754-195825755	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548694720	chr1:195825770-195825771	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567304279	chr1:195825786-195825787	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77333814	chr1:195825787-195825788	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556265485	chr1:195825812-195825813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80222473	chr1:195825814-195825815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192157866	chr1:195825815-195825816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72740149	chr1:195825817-195825818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572645286	chr1:195825880-195825881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543342444	chr1:195825941-195825942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560927224	chr1:195825990-195825991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576002338	chr1:195826073-195826074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112941366	chr1:195826085-195826086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12741642	chr1:195826095-195826096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564997984	chr1:195826131-195826132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376477759	chr1:195826155-195826156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10921959	chr1:195826212-195826213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551286079	chr1:195826227-195826228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10921960	chr1:195826263-195826264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527573822	chr1:195826276-195826277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184421351	chr1:195826303-195826304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138043469	chr1:195826321-195826322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537803619	chr1:195826398-195826399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188030729	chr1:195826434-195826435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12083144	chr1:195826441-195826442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538771490	chr1:195826446-195826447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111358477	chr1:195826471-195826472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200328280	chr1:195826477-195826478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554062720	chr1:195826512-195826513	Weak transcription	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
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

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195818000-195825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:195818000-195826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:195821600-195835200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:195825400-195825800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:195832800-195833200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:195832800-195833600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:195833200-195833600	Enhancers	K562	blood
8	chr1:195833600-195834600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:195833600-195836600	Active TSS	K562	blood
10	chr1:195834600-195835600	Enhancers	Fetal Brain Male	brain
11	chr1:195834600-195835800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:195834800-195835000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:195835000-195835600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:195835200-195835800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:195835200-195835800	Enhancers	Brain Substantia Nigra	brain
16	chr1:195835600-195835800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:195835800-195837400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:195836600-195837000	Enhancers	K562	blood
19	chr1:195841400-195841800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:195849000-195849400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:195849000-195849400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:195849000-195849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:195849000-195849400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:195855400-195855800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:195855400-195855800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:195855400-195855800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:195855400-195856000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:195855400-195856000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:195855800-195858200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:195858200-195858800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:195862800-195864200	Enhancers	K562	blood
32	chr1:195863000-195863200	Enhancers	Aorta	Aorta
33	chr1:195863200-195864000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:195863200-195864200	Enhancers	Fetal Heart	heart
35	chr1:195863200-195864200	Enhancers	HMEC	breast
36	chr1:195863200-195864400	Enhancers	Left Ventricle	heart
37	chr1:195863400-195864400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:195863400-195864400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:195863600-195864000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:195863600-195864000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:195863600-195864200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:195863600-195864200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:195863800-195864200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:195863800-195864200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:195864200-195866400	Weak transcription	K562	blood
46	chr1:195864200-195868800	Weak transcription	HMEC	breast
47	chr1:195864400-195868800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:195864400-195869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:195866400-195866600	Enhancers	K562	blood
50	chr1:195866600-195867000	Weak transcription	K562	blood

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