Variant report

Variant	nsv872977
Chromosome Location	chr1:196657064-196670757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000000971	chromatin interactions

Extended variants
information (count: 695 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570618	chr1:196657064-196657065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139404247	chr1:196657091-196657092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35063447	chr1:196657102-196657103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570397290	chr1:196657109-196657110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150073367	chr1:196657115-196657116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75182568	chr1:196657134-196657135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188644600	chr1:196657136-196657137	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568614720	chr1:196657188-196657189	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181075133	chr1:196657193-196657194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147555838	chr1:196657243-196657244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185235074	chr1:196657260-196657261	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191184543	chr1:196657300-196657301	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557146577	chr1:196657306-196657307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568969626	chr1:196657313-196657314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201789844	chr1:196657357-196657358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10922092	chr1:196657414-196657415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554004457	chr1:196657442-196657443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558124916	chr1:196657478-196657479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141991898	chr1:196657532-196657533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541297968	chr1:196657608-196657609	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183957854	chr1:196657654-196657655	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10801554	chr1:196657655-196657656	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542007255	chr1:196657657-196657658	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563479465	chr1:196657701-196657702	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575406207	chr1:196657718-196657719	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545960290	chr1:196657759-196657760	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145845440	chr1:196657843-196657844	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545205532	chr1:196657907-196657908	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528100873	chr1:196657963-196657964	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12069060	chr1:196658021-196658022	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs562210286	chr1:196658035-196658036	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529550818	chr1:196658051-196658052	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117860689	chr1:196658057-196658058	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545167307	chr1:196658060-196658061	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569149359	chr1:196658083-196658084	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200387044	chr1:196658153-196658154	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539531285	chr1:196658157-196658158	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148484213	chr1:196658158-196658159	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74134398	chr1:196658161-196658162	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs72734318	chr1:196658165-196658166	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs36170795	chr1:196658169-196658170	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs398053678	chr1:196658173-196658174	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551612253	chr1:196658181-196658182	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566977665	chr1:196658194-196658195	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187255086	chr1:196658277-196658278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7529589	chr1:196658279-196658280	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs574740126	chr1:196658307-196658308	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535798565	chr1:196658308-196658309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557181611	chr1:196658355-196658356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56199504	chr1:196658378-196658379	Weak transcription Enhancers Strong transcription	n/a	n/a	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:93 , 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	chr1:196641400-196665800	Strong transcription	Liver	Liver
8	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
9	chr1:196646000-196678400	Weak transcription	K562	blood
10	chr1:196648000-196659200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:196648200-196661200	Weak transcription	NHLF	lung
12	chr1:196648200-196662200	Weak transcription	HSMMtube	muscle
13	chr1:196648200-196666600	Weak transcription	NH-A	brain
14	chr1:196648200-196670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:196649600-196707200	Weak transcription	Osteobl	bone
17	chr1:196651400-196662600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:196653600-196660600	Strong transcription	Dnd41	blood
19	chr1:196653600-196673600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:196653800-196669600	Weak transcription	Lung	lung
21	chr1:196655000-196659800	Weak transcription	Left Ventricle	heart
22	chr1:196655000-196671600	Weak transcription	Esophagus	oesophagus
23	chr1:196655200-196658600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:196655200-196659200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:196655200-196672200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:196655400-196657400	Weak transcription	Fetal Kidney	kidney
27	chr1:196655400-196658600	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:196655600-196658600	Weak transcription	Ovary	ovary
29	chr1:196655600-196659200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:196656400-196664200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:196656600-196658200	Weak transcription	HSMM	muscle
32	chr1:196656800-196659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:196657600-196659400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:196657800-196658200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:196658200-196659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:196658200-196659600	Strong transcription	HSMM	muscle
37	chr1:196658600-196660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:196658600-196660200	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:196658600-196660200	Strong transcription	Ovary	ovary
40	chr1:196659000-196660200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:196659200-196660000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:196659200-196660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:196659200-196660200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:196659200-196660400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:196659600-196670400	Weak transcription	HSMM	muscle
46	chr1:196659800-196660200	Enhancers	Placenta	Placenta
47	chr1:196660000-196662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:196660000-196692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:196660200-196662400	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:196660200-196662600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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