Variant report

Variant	nsv1013186
Chromosome Location	chr1:119005483-119048663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:118984004..118986718-chr1:119008143..119011003,2	K562	blood:
2	chr1:119024221..119026264-chr1:119682638..119684716,2	MCF-7	breast:
3	chr1:119023448..119025739-chr1:119456881..119458655,2	MCF-7	breast:
4	chr1:119029137..119029961-chr4:130198941..130199727,2	MCF-7	breast:
5	chr1:119013645..119016477-chr1:119021978..119024447,3	MCF-7	breast:
6	chr1:119013645..119016477-chr1:119021978..119024447,3	MCF-7	breast:
7	chr1:119042805..119045350-chr1:119050296..119052660,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116874	chromatin interactions
ENSG00000231365	chromatin interactions

Extended variants
information (count: 629 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1146333	chr1:119005483-119005484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574070817	chr1:119005498-119005499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1146332	chr1:119005561-119005562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1146331	chr1:119005580-119005581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77588724	chr1:119005625-119005626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186731936	chr1:119005635-119005636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73009280	chr1:119005651-119005652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189627225	chr1:119005697-119005698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568203447	chr1:119005733-119005734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558229892	chr1:119005735-119005736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36115630	chr1:119005755-119005756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78982621	chr1:119005768-119005769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114142023	chr1:119005775-119005776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552070763	chr1:119005792-119005793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563896769	chr1:119005859-119005860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112246709	chr1:119005876-119005877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200804763	chr1:119005960-119005961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529486644	chr1:119005964-119005965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544748302	chr1:119005983-119005984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113478232	chr1:119005986-119005987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533725333	chr1:119006031-119006032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549541942	chr1:119006096-119006097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551762887	chr1:119006132-119006133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1146330	chr1:119006150-119006151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534666178	chr1:119006182-119006183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202000361	chr1:119006262-119006263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570875737	chr1:119006293-119006294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550336874	chr1:119006298-119006299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548689815	chr1:119006325-119006326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566974573	chr1:119006349-119006350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537654487	chr1:119006447-119006448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549988302	chr1:119006462-119006463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571352464	chr1:119006505-119006506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59481454	chr1:119006527-119006528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554094976	chr1:119006624-119006625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573291675	chr1:119006668-119006669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372311334	chr1:119006701-119006702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555902184	chr1:119006703-119006704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574042032	chr1:119006735-119006736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544373760	chr1:119006756-119006757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370015179	chr1:119006759-119006760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145859922	chr1:119006763-119006764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34151351	chr1:119006803-119006804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576248555	chr1:119006804-119006805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545310021	chr1:119006805-119006806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386368205	chr1:119006806-119006807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386368206	chr1:119006810-119006811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386354266	chr1:119006812-119006813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557892518	chr1:119006843-119006844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1146329	chr1:119006899-119006900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119005000-119007200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:119012000-119012400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:119012000-119012600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:119012000-119012600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:119025400-119025600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:119025400-119025800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:119025400-119025800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:119025400-119025800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:119025600-119025800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:119025600-119026600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:119025600-119026800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:119025800-119026000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:119025800-119026200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:119025800-119026600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:119025800-119026600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:119025800-119026600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:119025800-119026800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:119026000-119026200	Enhancers	HMEC	breast
19	chr1:119026000-119026600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:119026000-119026600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:119026000-119026600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:119026000-119026600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:119026000-119026600	Enhancers	Placenta	Placenta
24	chr1:119026000-119026600	Enhancers	NHEK	skin
25	chr1:119026000-119026800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:119026000-119026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:119026000-119027000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:119026200-119026600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:119026400-119026600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:119026600-119027200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:119026600-119027600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:119026600-119027600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:119026600-119027800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:119026600-119028000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:119026600-119028200	Weak transcription	NHEK	skin
36	chr1:119026600-119028400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:119026600-119028400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:119026800-119027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:119026800-119028400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:119026800-119028600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:119026800-119029600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:119027000-119029400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:119027200-119028200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:119027600-119028000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:119027600-119028600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:119027600-119030000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:119027800-119029800	Enhancers	HMEC	breast
48	chr1:119027800-119030000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:119028000-119030800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr1:119028000-119031200	Enhancers	HUES48 Cell Line	embryonic stem cell

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