Variant report

Variant	nsv872969
Chromosome Location	chr1:196654992-196661613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:
2	chr1:196650074..196651729-chr1:196657061..196659074,3	K562	blood:
3	chr1:196645088..196647729-chr1:196655612..196658233,2	K562	blood:

Variant related genes	Relation type
ENSG00000000971	chromatin interactions

Extended variants
information (count: 285 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34639660	chr1:196654992-196654993	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570967720	chr1:196655014-196655015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191309681	chr1:196655035-196655036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553482093	chr1:196655058-196655059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150786100	chr1:196655092-196655093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562572116	chr1:196655097-196655098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542935040	chr1:196655102-196655103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555270887	chr1:196655138-196655139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35285703	chr1:196655149-196655150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543993813	chr1:196655151-196655152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565482824	chr1:196655178-196655179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532649068	chr1:196655196-196655197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1329422	chr1:196655280-196655281	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35108279	chr1:196655318-196655319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34058609	chr1:196655342-196655343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548317042	chr1:196655347-196655348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116521612	chr1:196655355-196655356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531509955	chr1:196655391-196655392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545113288	chr1:196655394-196655395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77294182	chr1:196655408-196655409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571153754	chr1:196655441-196655442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538345692	chr1:196655442-196655443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367628726	chr1:196655465-196655466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183591074	chr1:196655467-196655468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371788686	chr1:196655479-196655480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536214896	chr1:196655497-196655498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144677941	chr1:196655536-196655537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576764198	chr1:196655582-196655583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189502678	chr1:196655585-196655586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs514756	chr1:196655607-196655608	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559186273	chr1:196655610-196655611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72515441	chr1:196655615-196655616	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577551003	chr1:196655617-196655618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545687370	chr1:196655621-196655622	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34386071	chr1:196655624-196655625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533656180	chr1:196655659-196655660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541146578	chr1:196655708-196655709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2300430	chr1:196655713-196655714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs193058597	chr1:196655733-196655734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10801553	chr1:196655743-196655744	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112870754	chr1:196655747-196655748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185424258	chr1:196655764-196655765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531495863	chr1:196655771-196655772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549702034	chr1:196655854-196655855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs564723231	chr1:196655883-196655884	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376511524	chr1:196655917-196655918	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547294897	chr1:196655920-196655921	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531427602	chr1:196655933-196655934	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139545890	chr1:196655958-196655959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548205536	chr1:196655968-196655969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
2	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:196639200-196657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:196640200-196657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:196641400-196665800	Strong transcription	Liver	Liver
9	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
10	chr1:196646000-196678400	Weak transcription	K562	blood
11	chr1:196648000-196659200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:196648200-196661200	Weak transcription	NHLF	lung
13	chr1:196648200-196662200	Weak transcription	HSMMtube	muscle
14	chr1:196648200-196666600	Weak transcription	NH-A	brain
15	chr1:196648200-196670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:196649600-196707200	Weak transcription	Osteobl	bone
18	chr1:196651400-196662600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:196653200-196656800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:196653600-196660600	Strong transcription	Dnd41	blood
21	chr1:196653600-196673600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:196653800-196656600	Strong transcription	HSMM	muscle
23	chr1:196653800-196669600	Weak transcription	Lung	lung
24	chr1:196654000-196655200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr1:196654200-196655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:196654200-196655400	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:196654200-196655600	Strong transcription	Ovary	ovary
28	chr1:196654800-196655000	ZNF genes & repeats	Esophagus	oesophagus
29	chr1:196654800-196655000	Enhancers	Left Ventricle	heart
30	chr1:196654800-196655200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:196654800-196655400	Strong transcription	Fetal Kidney	kidney
32	chr1:196654800-196655600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:196655000-196659800	Weak transcription	Left Ventricle	heart
34	chr1:196655000-196671600	Weak transcription	Esophagus	oesophagus
35	chr1:196655200-196658600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:196655200-196659200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:196655200-196672200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:196655400-196657400	Weak transcription	Fetal Kidney	kidney
39	chr1:196655400-196658600	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:196655600-196658600	Weak transcription	Ovary	ovary
41	chr1:196655600-196659200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:196656400-196664200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:196656600-196658200	Weak transcription	HSMM	muscle
44	chr1:196656800-196659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:196657600-196659400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:196657800-196658200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:196658200-196659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:196658200-196659600	Strong transcription	HSMM	muscle
49	chr1:196658600-196660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:196658600-196660200	Strong transcription	Fetal Muscle Leg	muscle

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