Variant report

Variant	nsv526237
Chromosome Location	chr1:71142168-71145822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71139654..71142192-chr1:71144510..71147443,2	MCF-7	breast:
2	chr1:71139654..71142192-chr1:71144510..71147443,2	MCF-7	breast:
3	chr1:71139809..71142590-chr1:71513361..71515256,2	K562	blood:
4	chr1:71131135..71133902-chr1:71140118..71142284,2	K562	blood:
5	chr1:71140625..71143147-chr1:71147219..71151401,4	K562	blood:

Variant related genes	Relation type
ENSG00000235079	chromatin interactions
ENSG00000050628	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6674127	chr1:71142168-71142169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs17131397	chr1:71142180-71142181	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2782763	chr1:71142202-71142203	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs547883666	chr1:71142204-71142205	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs368026661	chr1:71142236-71142237	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561492288	chr1:71142268-71142269	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530415688	chr1:71142310-71142311	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs193077845	chr1:71142324-71142325	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570701653	chr1:71142365-71142366	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539370309	chr1:71142406-71142407	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546736933	chr1:71142407-71142408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566276786	chr1:71142427-71142428	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566554485	chr1:71142432-71142433	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184660287	chr1:71142479-71142480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528726271	chr1:71142484-71142485	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs537976789	chr1:71142520-71142521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs142875697	chr1:71142550-71142551	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188977206	chr1:71142557-71142558	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551746787	chr1:71142632-71142633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192928277	chr1:71142645-71142646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2152125	chr1:71142724-71142725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184039098	chr1:71142763-71142764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189165140	chr1:71142766-71142767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148048385	chr1:71142928-71142929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141845333	chr1:71142936-71142937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181696745	chr1:71143002-71143003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542057626	chr1:71143031-71143032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561428949	chr1:71143072-71143073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529477381	chr1:71143101-71143102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530546033	chr1:71143142-71143143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546409192	chr1:71143184-71143185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186044780	chr1:71143198-71143199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563939849	chr1:71143223-71143224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533209884	chr1:71143249-71143250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564628413	chr1:71143269-71143270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546577171	chr1:71143313-71143314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138853242	chr1:71143360-71143361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75215497	chr1:71143364-71143365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529087166	chr1:71143413-71143414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549227933	chr1:71143459-71143460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17131398	chr1:71143472-71143473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115478227	chr1:71143486-71143487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79376223	chr1:71143503-71143504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78848660	chr1:71143504-71143505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138122897	chr1:71143507-71143508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190798134	chr1:71143552-71143553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570760268	chr1:71143592-71143593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550895863	chr1:71143735-71143736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146374500	chr1:71143737-71143738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139711575	chr1:71143739-71143740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71139000-71145400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:71139400-71143200	Weak transcription	Ovary	ovary
3	chr1:71139800-71142400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:71140400-71142400	Flanking Active TSS	K562	blood
5	chr1:71140600-71143000	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:71140800-71142200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:71140800-71142200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:71140800-71142400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:71140800-71142400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:71141000-71142400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr1:71141600-71142400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:71141800-71142200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:71141800-71142400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:71141800-71142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:71142000-71142200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:71142000-71142400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:71142000-71142400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:71142400-71143800	Enhancers	K562	blood
19	chr1:71145200-71146600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:71145400-71146400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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