Variant report

Variant	nsv517708
Chromosome Location	chr1:223567267-223567803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223534957..223537393-chr1:223566287..223567830,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143502	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6679661	chr1:223567267-223567268	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200981335	chr1:223567268-223567269	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145351641	chr1:223567272-223567273	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116340148	chr1:223567282-223567283	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372852411	chr1:223567288-223567289	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201362280	chr1:223567294-223567295	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369335515	chr1:223567299-223567300	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372316395	chr1:223567326-223567327	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191568953	chr1:223567345-223567346	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375613131	chr1:223567361-223567362	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6689850	chr1:223567401-223567402	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs202172237	chr1:223567441-223567442	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141894100	chr1:223567442-223567443	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200958819	chr1:223567456-223567457	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373455542	chr1:223567485-223567486	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533107933	chr1:223567487-223567488	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150761495	chr1:223567489-223567490	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs267598389	chr1:223567506-223567507	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2298063	chr1:223567531-223567532	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376868687	chr1:223567543-223567544	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143126549	chr1:223567571-223567572	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537916148	chr1:223567576-223567577	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556677048	chr1:223567586-223567587	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182459489	chr1:223567613-223567614	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144076109	chr1:223567615-223567616	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200353990	chr1:223567628-223567629	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573008518	chr1:223567656-223567657	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543098268	chr1:223567668-223567669	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199694908	chr1:223567686-223567687	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186875984	chr1:223567716-223567717	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374835925	chr1:223567724-223567725	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573566361	chr1:223567735-223567736	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369291712	chr1:223567795-223567796	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544003933	chr1:223567796-223567797	Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562241616	chr1:223567801-223567802	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10907376	chr1:223567803-223567804	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223566600-223567400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:223566600-223567400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
3	chr1:223566600-223567400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:223566600-223567400	Bivalent/Poised TSS	Colonic Mucosa	Colon
5	chr1:223566600-223567400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
6	chr1:223566600-223567400	Bivalent/Poised TSS	A549	lung
7	chr1:223566600-223567400	Flanking Bivalent TSS/Enh	HMEC	breast
8	chr1:223566600-223567600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:223566800-223567400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:223566800-223567400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr1:223566800-223567400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:223566800-223567400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:223566800-223567400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:223566800-223567400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
15	chr1:223566800-223567400	Active TSS	HSMM	muscle
16	chr1:223566800-223567600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
17	chr1:223566800-223568600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:223567000-223567400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
19	chr1:223567000-223567400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:223567000-223567400	Enhancers	Fetal Heart	heart
21	chr1:223567000-223567400	Enhancers	Gastric	stomach
22	chr1:223567000-223567600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:223567200-223567400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:223567200-223567400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:223567200-223567400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:223567200-223567400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:223567200-223567400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:223567200-223567400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:223567200-223567400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:223567200-223567400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:223567200-223567400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:223567200-223567400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:223567200-223567400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:223567200-223567400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
35	chr1:223567200-223567400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
36	chr1:223567200-223567400	Flanking Active TSS	Esophagus	oesophagus
37	chr1:223567200-223567400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr1:223567200-223567400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr1:223567200-223567400	Enhancers	Pancreas	Pancrea
40	chr1:223567200-223567400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr1:223567200-223567400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:223567200-223567400	Bivalent Enhancer	NH-A	brain
43	chr1:223567200-223567600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr1:223567200-223567600	Bivalent Enhancer	Right Ventricle	heart
45	chr1:223567200-223567600	Flanking Bivalent TSS/Enh	NHEK	skin
46	chr1:223567200-223568000	ZNF genes & repeats	Lung	lung
47	chr1:223567400-223567600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:223567400-223567800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:223567400-223567800	Enhancers	Esophagus	oesophagus
50	chr1:223567400-223568000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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