Variant report

Variant	nsv872168
Chromosome Location	chr1:118909283-119002799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:118977262..118979254-chr1:118983674..118987440,3	K562	blood:
2	chr1:118984004..118986718-chr1:119008143..119011003,2	K562	blood:
3	chr1:118989107..118990022-chr20:53475138..53475899,2	MCF-7	breast:
4	chr1:118977262..118979254-chr1:118983674..118987440,3	K562	blood:
5	chr1:118958475..118959178-chr4:78279470..78280113,2	MCF-7	breast:

Extended variants
information (count: 930 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2245559	chr1:118909283-118909284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs71586642	chr1:118909288-118909289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3029975	chr1:118909289-118909290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397835409	chr1:118909299-118909300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537591240	chr1:118909305-118909306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17038220	chr1:118909337-118909338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571500033	chr1:118909339-118909340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538815125	chr1:118909346-118909347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145752787	chr1:118909364-118909365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148935986	chr1:118909378-118909379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181875241	chr1:118909481-118909482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186996300	chr1:118909549-118909550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557537910	chr1:118909590-118909591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550885042	chr1:118909598-118909599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74397641	chr1:118909621-118909622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75886676	chr1:118909668-118909669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191385307	chr1:118909675-118909676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181355486	chr1:118909727-118909728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560425039	chr1:118909741-118909742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376235864	chr1:118909774-118909775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114436891	chr1:118909789-118909790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548907027	chr1:118909793-118909794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367696632	chr1:118909803-118909804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185580577	chr1:118909837-118909838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189990699	chr1:118909867-118909868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560763727	chr1:118909912-118909913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376259444	chr1:118909917-118909918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531319558	chr1:118909938-118909939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549637251	chr1:118909943-118909944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527958421	chr1:118909945-118909946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538851952	chr1:118909983-118909984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547571335	chr1:118910009-118910010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565980031	chr1:118910018-118910019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536198795	chr1:118910048-118910049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73007146	chr1:118910124-118910125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372224799	chr1:118910130-118910131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573980866	chr1:118910189-118910190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34629781	chr1:118910194-118910195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552538778	chr1:118910214-118910215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538212704	chr1:118910217-118910218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556256866	chr1:118910253-118910254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577677756	chr1:118910271-118910272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148170988	chr1:118910343-118910344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143019370	chr1:118910349-118910350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572591933	chr1:118910367-118910368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369310728	chr1:118910381-118910382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542986196	chr1:118910392-118910393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114220589	chr1:118923627-118923628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2493819	chr1:118923636-118923637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570376063	chr1:118923652-118923653	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:118903800-118909600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:118909000-118909800	Enhancers	HMEC	breast
3	chr1:118909200-118909600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:118909200-118909800	Enhancers	Hela-S3	cervix
5	chr1:118909400-118909600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:118909400-118910000	Enhancers	Osteobl	bone
7	chr1:118909600-118909800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:118909600-118910400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:118923600-118924600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:118923800-118924200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:118924000-118924400	Enhancers	HMEC	breast
12	chr1:118928600-118929000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:118930400-118930600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:118930600-118930800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:118930600-118931600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:118930800-118931600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:118931000-118931400	Enhancers	Fetal Muscle Leg	muscle
18	chr1:118931000-118931600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:118931000-118931600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:118931200-118932000	Enhancers	Psoas Muscle	Psoas
21	chr1:118931400-118931600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:118932000-118938400	Weak transcription	Psoas Muscle	Psoas
23	chr1:118938000-118939400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:118938000-118940200	Enhancers	Adipose Nuclei	Adipose
25	chr1:118938200-118939000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:118938200-118939400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:118938200-118939400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:118938400-118938600	Enhancers	Psoas Muscle	Psoas
29	chr1:118938400-118939800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:118938400-118940000	Enhancers	Fetal Muscle Leg	muscle
31	chr1:118938600-118939000	Weak transcription	Psoas Muscle	Psoas
32	chr1:118939000-118940000	Enhancers	Colon Smooth Muscle	Colon
33	chr1:118939000-118940000	Enhancers	Psoas Muscle	Psoas
34	chr1:118939200-118939600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr1:118939200-118939600	Enhancers	Pancreas	Pancrea
36	chr1:118939200-118940000	Enhancers	Esophagus	oesophagus
37	chr1:118939400-118939600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr1:118939400-118940000	Enhancers	Left Ventricle	heart
39	chr1:118939400-118940000	Enhancers	Right Ventricle	heart
40	chr1:118939400-118940400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr1:118939600-118939800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr1:118939600-118940000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:118939800-118940000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:118940000-118940400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr1:118940000-118940400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:118966000-118966600	Enhancers	HSMMtube	muscle
47	chr1:118991200-118992000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:118992000-118997800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:118997800-118998000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:118998000-119004200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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