Variant report

Variant	nsv547614
Chromosome Location	chr1:119074219-119106936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:119106535..119107478-chr1:119259424..119260114,3	MCF-7	breast:
2	chr1:119098002..119101415-chr1:119102876..119105399,4	MCF-7	breast:
3	chr1:119076348..119078164-chr1:119100717..119102407,2	MCF-7	breast:
4	chr1:119098002..119101415-chr1:119102876..119105399,4	MCF-7	breast:
5	chr1:119076348..119078164-chr1:119100717..119102407,2	MCF-7	breast:
6	chr1:119079795..119080727-chr1:119259154..119260061,2	MCF-7	breast:
7	chr1:119079968..119080633-chr1:119471357..119471948,2	MCF-7	breast:
8	chr1:119100585..119102807-chr1:119107328..119110035,2	MCF-7	breast:

No data

Extended variants
information (count: 302 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35884388	chr1:119098804-119098805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58903458	chr1:119098805-119098806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12728834	chr1:119098825-119098826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77163361	chr1:119098827-119098828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386635056	chr1:119098837-119098838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10754382	chr1:119098839-119098840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs56003673	chr1:119098883-119098884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544232095	chr1:119098966-119098967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562137253	chr1:119098972-119098973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532911339	chr1:119098999-119099000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182251649	chr1:119099005-119099006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368830481	chr1:119099008-119099009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140521991	chr1:119099046-119099047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186557614	chr1:119099066-119099067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192645820	chr1:119099076-119099077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536369963	chr1:119099087-119099088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554336595	chr1:119099104-119099105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567584781	chr1:119099111-119099112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371941664	chr1:119099130-119099131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534962434	chr1:119099160-119099161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150422747	chr1:119099174-119099175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569227126	chr1:119099180-119099181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377585743	chr1:119099249-119099250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114649386	chr1:119099387-119099388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78098931	chr1:119099389-119099390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111781190	chr1:119099451-119099452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557643544	chr1:119099463-119099464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567093078	chr1:119099468-119099469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370532734	chr1:119099475-119099476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566473308	chr1:119099495-119099496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183207674	chr1:119099506-119099507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142323762	chr1:119099567-119099568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188565842	chr1:119099584-119099585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146909961	chr1:119099644-119099645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538155769	chr1:119099687-119099688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115967317	chr1:119099759-119099760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193157907	chr1:119099797-119099798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544723102	chr1:119099798-119099799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559841509	chr1:119099799-119099800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572030064	chr1:119099800-119099801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542846711	chr1:119099814-119099815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79017081	chr1:119099831-119099832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531636792	chr1:119099832-119099833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77478554	chr1:119099847-119099848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562886473	chr1:119099886-119099887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11590971	chr1:119099887-119099888	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs185020912	chr1:119099909-119099910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34120364	chr1:119099918-119099919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56654623	chr1:119099925-119099926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556300490	chr1:119099945-119099946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119098800-119099000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:119099000-119100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:119099600-119100000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:119099800-119100200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:119099800-119100800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:119100000-119100400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:119100000-119100400	Enhancers	Fetal Muscle Leg	muscle
8	chr1:119100200-119107000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:119100400-119101600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:119100800-119106200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:119101600-119101800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:119101600-119102000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:119101800-119106800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:119102000-119106800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:119106200-119108400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:119106800-119107200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:119106800-119107200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:119106800-119107200	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:119106800-119107200	Enhancers	GM12878-XiMat	blood
20	chr1:119106800-119108000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:119106800-119108200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:119106800-119108200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:119106800-119108200	Enhancers	Fetal Muscle Leg	muscle
24	chr1:119106800-119108200	Enhancers	Rectal Smooth Muscle	rectum

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