Variant report

Variant	nsv872975
Chromosome Location	chr1:196656737-196670757
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..196659074,3	K562	blood:
2	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:
3	chr1:196645088..196647729-chr1:196655612..196658233,2	K562	blood:

Variant related genes	Relation type
ENSG00000000971	chromatin interactions

Extended variants
information (count: 710 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34219315	chr1:196656737-196656738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs568599287	chr1:196656786-196656787	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115059887	chr1:196656787-196656788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142404756	chr1:196656861-196656862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575355571	chr1:196656879-196656880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545756356	chr1:196656911-196656912	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557875062	chr1:196656935-196656936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs151315348	chr1:196656952-196656953	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541009311	chr1:196656957-196656958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559483857	chr1:196656964-196656965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535005666	chr1:196656975-196656976	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375498047	chr1:196657006-196657007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529876284	chr1:196657021-196657022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542070809	chr1:196657022-196657023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563341504	chr1:196657040-196657041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570618	chr1:196657064-196657065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139404247	chr1:196657091-196657092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35063447	chr1:196657102-196657103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570397290	chr1:196657109-196657110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150073367	chr1:196657115-196657116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75182568	chr1:196657134-196657135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188644600	chr1:196657136-196657137	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568614720	chr1:196657188-196657189	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181075133	chr1:196657193-196657194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147555838	chr1:196657243-196657244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185235074	chr1:196657260-196657261	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191184543	chr1:196657300-196657301	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557146577	chr1:196657306-196657307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568969626	chr1:196657313-196657314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201789844	chr1:196657357-196657358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10922092	chr1:196657414-196657415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554004457	chr1:196657442-196657443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558124916	chr1:196657478-196657479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141991898	chr1:196657532-196657533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541297968	chr1:196657608-196657609	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183957854	chr1:196657654-196657655	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10801554	chr1:196657655-196657656	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542007255	chr1:196657657-196657658	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563479465	chr1:196657701-196657702	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575406207	chr1:196657718-196657719	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545960290	chr1:196657759-196657760	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145845440	chr1:196657843-196657844	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545205532	chr1:196657907-196657908	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528100873	chr1:196657963-196657964	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12069060	chr1:196658021-196658022	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs562210286	chr1:196658035-196658036	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529550818	chr1:196658051-196658052	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs117860689	chr1:196658057-196658058	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545167307	chr1:196658060-196658061	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569149359	chr1:196658083-196658084	Strong transcription Weak transcription Enhancers	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:95 , 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	chr1:196653800-196669600	Weak transcription	Lung	lung
23	chr1:196655000-196659800	Weak transcription	Left Ventricle	heart
24	chr1:196655000-196671600	Weak transcription	Esophagus	oesophagus
25	chr1:196655200-196658600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:196655200-196659200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:196655200-196672200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:196655400-196657400	Weak transcription	Fetal Kidney	kidney
29	chr1:196655400-196658600	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:196655600-196658600	Weak transcription	Ovary	ovary
31	chr1:196655600-196659200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:196656400-196664200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:196656600-196658200	Weak transcription	HSMM	muscle
34	chr1:196656800-196659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:196657600-196659400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:196657800-196658200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:196658200-196659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:196658200-196659600	Strong transcription	HSMM	muscle
39	chr1:196658600-196660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:196658600-196660200	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:196658600-196660200	Strong transcription	Ovary	ovary
42	chr1:196659000-196660200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:196659200-196660000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:196659200-196660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:196659200-196660200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:196659200-196660400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:196659600-196670400	Weak transcription	HSMM	muscle
48	chr1:196659800-196660200	Enhancers	Placenta	Placenta
49	chr1:196660000-196662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:196660000-196692600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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