Variant report

Variant	nsv946462
Chromosome Location	chr1:161415069-161442007
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	chr1:161441922..161445226-chr1:161466780..161470505,3	K562	blood:

Extended variants
information (count: 188 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139428616	chr1:161415143-161415144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142639551	chr1:161415295-161415296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144123870	chr1:161415391-161415392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148621372	chr1:161415413-161415414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142056256	chr1:161415485-161415486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151181694	chr1:161415518-161415519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139511556	chr1:161415658-161415659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145565833	chr1:161415663-161415664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147711996	chr1:161415668-161415669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142515023	chr1:161415780-161415781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11487529	chr1:161415883-161415884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11487530	chr1:161415900-161415901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528507003	chr1:161415949-161415950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148940498	chr1:161416163-161416164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143629955	chr1:161416169-161416170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148115493	chr1:161416430-161416431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142829920	chr1:161416546-161416547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371642855	chr1:161416893-161416894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145480233	chr1:161416913-161416914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147563605	chr1:161417195-161417196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138059771	chr1:161417288-161417289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11484758	chr1:161417601-161417602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9427053	chr1:161417835-161417836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150599746	chr1:161417897-161417898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139620516	chr1:161418685-161418686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61802767	chr1:161420033-161420034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141921886	chr1:161420045-161420046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144421830	chr1:161420074-161420075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61802769	chr1:161420138-161420139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61802770	chr1:161420140-161420141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139581619	chr1:161420174-161420175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12087477	chr1:161420503-161420504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11484811	chr1:161420690-161420691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77953514	chr1:161420743-161420744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61802771	chr1:161420806-161420807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369836742	chr1:161420819-161420820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144194668	chr1:161420921-161420922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61802772	chr1:161420957-161420958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145891386	chr1:161420975-161420976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55736500	chr1:161420978-161420979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56874980	chr1:161420985-161420986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57433709	chr1:161420986-161420987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147584510	chr1:161421002-161421003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140960730	chr1:161421221-161421222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142400719	chr1:161421450-161421451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151326155	chr1:161421476-161421477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201475024	chr1:161421602-161421603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149002293	chr1:161421657-161421658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140582187	chr1:161421683-161421684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150406323	chr1:161421684-161421685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161415000-161423800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:161415000-161423800	Weak transcription	Gastric	stomach
3	chr1:161415000-161423800	Weak transcription	Pancreas	Pancrea
4	chr1:161415000-161423800	Weak transcription	Spleen	Spleen
5	chr1:161423800-161424000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
7	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:161423800-161424000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:161423800-161424000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:161423800-161424000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
18	chr1:161423800-161424000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr1:161423800-161424000	Bivalent Enhancer	Placenta	Placenta
20	chr1:161423800-161424000	Bivalent Enhancer	Left Ventricle	heart
21	chr1:161423800-161424000	ZNF genes & repeats	Pancreas	Pancrea
22	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
23	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Spleen	Spleen
24	chr1:161423800-161424000	Enhancers	HMEC	breast
25	chr1:161423800-161424000	Enhancers	K562	blood
26	chr1:161423800-161424200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:161423800-161424200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr1:161423800-161424200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:161423800-161424200	ZNF genes & repeats	Aorta	Aorta
30	chr1:161423800-161424200	ZNF genes & repeats	Gastric	stomach
31	chr1:161424000-161424200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:161424000-161424200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr1:161424000-161424200	Bivalent Enhancer	Spleen	Spleen
34	chr1:161424200-161426800	Weak transcription	HMEC	breast
35	chr1:161424200-161427000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:161424200-161427000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:161424200-161427200	Weak transcription	Gastric	stomach
38	chr1:161424400-161430400	Weak transcription	Right Atrium	heart
39	chr1:161426800-161427000	Enhancers	HMEC	breast
40	chr1:161427000-161427200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr1:161427000-161427200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:161427000-161427200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:161427000-161427200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:161427000-161427200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:161427000-161427200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:161427000-161427400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr1:161427000-161427400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr1:161427000-161427400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:161427000-161427400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:161427000-161427400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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