Variant report

Variant	nsv1001577
Chromosome Location	chr1:119068257-119110725
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Extended variants
information (count: 424 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147120243	chr1:119068431-119068432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs542364998	chr1:119068452-119068453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200378799	chr1:119068480-119068481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375086982	chr1:119068492-119068493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs114474668	chr1:119068498-119068499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369097879	chr1:119068509-119068510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183471520	chr1:119068555-119068556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs4658982	chr1:119068597-119068598	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187805114	chr1:119068635-119068636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4659091	chr1:119068639-119068640	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs6660988	chr1:119068677-119068678	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs537489749	chr1:119068701-119068702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566910525	chr1:119068737-119068738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs6684700	chr1:119068788-119068789	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549566053	chr1:119068830-119068831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567983508	chr1:119068836-119068837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs192369316	chr1:119068885-119068886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574816410	chr1:119068923-119068924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556879520	chr1:119068937-119068938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571194825	chr1:119068955-119068956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs138512562	chr1:119068984-119068985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs535865234	chr1:119069020-119069021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185258674	chr1:119069034-119069035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1853702	chr1:119069042-119069043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554312955	chr1:119069044-119069045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149617715	chr1:119069050-119069051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543354617	chr1:119069059-119069060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377075492	chr1:119069098-119069099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs1830853	chr1:119069110-119069111	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs533176750	chr1:119069127-119069128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545346693	chr1:119069128-119069129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373210577	chr1:119069154-119069155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs1830854	chr1:119069178-119069179	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549476073	chr1:119069196-119069197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs190155538	chr1:119069200-119069201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs141538581	chr1:119073806-119073807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562865309	chr1:119073828-119073829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182245571	chr1:119073840-119073841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187341624	chr1:119073868-119073869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190205677	chr1:119073877-119073878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564588122	chr1:119073910-119073911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549703261	chr1:119073911-119073912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10923589	chr1:119073956-119073957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35884388	chr1:119098804-119098805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58903458	chr1:119098805-119098806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12728834	chr1:119098825-119098826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77163361	chr1:119098827-119098828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386635056	chr1:119098837-119098838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10754382	chr1:119098839-119098840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs56003673	chr1:119098883-119098884	Enhancers	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119068400-119069200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr1:119073800-119074000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:119098800-119099000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:119099000-119100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:119099600-119100000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:119099800-119100200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:119099800-119100800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:119100000-119100400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:119100000-119100400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:119100200-119107000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:119100400-119101600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:119100800-119106200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:119101600-119101800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:119101600-119102000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:119101800-119106800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:119102000-119106800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:119106200-119108400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:119106800-119107200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:119106800-119107200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:119106800-119107200	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:119106800-119107200	Enhancers	GM12878-XiMat	blood
22	chr1:119106800-119108000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:119106800-119108200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:119106800-119108200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:119106800-119108200	Enhancers	Fetal Muscle Leg	muscle
26	chr1:119106800-119108200	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:119107000-119107200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:119107000-119107600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:119107000-119107800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:119107000-119107800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:119107200-119108000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:119107200-119108400	Enhancers	Colon Smooth Muscle	Colon
33	chr1:119108400-119109400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:119109600-119109800	Enhancers	Placenta Amnion	Placenta Amnion

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