Variant report

Variant	nsv874005
Chromosome Location	chr2:49086399-49142199
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:49080769..49083086-chr2:49086686..49089047,2	MCF-7	breast:
2	chr2:49114963..49117141-chr2:49121572..49123521,3	K562	blood:
3	chr2:49139634..49141993-chr2:49154425..49156573,2	K562	blood:
4	chr2:49108913..49110824-chr2:49114186..49115949,2	MCF-7	breast:
5	chr2:49127535..49130275-chr2:49154381..49157152,2	MCF-7	breast:
6	chr2:49108913..49110824-chr2:49114186..49115949,2	MCF-7	breast:
7	chr2:49081319..49083197-chr2:49107259..49109037,2	MCF-7	breast:
8	chr2:48826097..48828718-chr2:49093582..49095780,2	K562	blood:
9	chr2:49121216..49123118-chr2:49126253..49127804,2	MCF-7	breast:
10	chr2:49096223..49098177-chr2:49104222..49106803,2	MCF-7	breast:
11	chr2:49114963..49117141-chr2:49121572..49123521,3	K562	blood:
12	chr2:48993937..48996711-chr2:49125527..49127927,2	MCF-7	breast:
13	chr2:49121216..49123118-chr2:49126253..49127804,2	MCF-7	breast:
14	chr2:49096223..49098177-chr2:49104222..49106803,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000068781	chromatin interactions

Extended variants
information (count: 1988 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1988 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17483876	chr2:49086399-49086400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541659896	chr2:49086459-49086460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563024684	chr2:49086476-49086477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111719476	chr2:49086516-49086517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556639382	chr2:49086529-49086530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530496917	chr2:49086594-49086595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546348134	chr2:49086601-49086602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140339382	chr2:49086648-49086649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563887363	chr2:49086658-49086659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528092437	chr2:49086668-49086669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117794585	chr2:49086674-49086675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568061781	chr2:49086699-49086700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546975789	chr2:49086701-49086702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535065541	chr2:49086714-49086715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371892672	chr2:49086723-49086724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180808714	chr2:49086752-49086753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62137452	chr2:49086811-49086812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143553369	chr2:49086812-49086813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539513021	chr2:49086831-49086832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150999595	chr2:49086832-49086833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573104558	chr2:49086878-49086879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564089470	chr2:49086895-49086896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570010224	chr2:49086897-49086898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185211881	chr2:49086908-49086909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140892989	chr2:49086911-49086912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537288148	chr2:49086921-49086922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551969768	chr2:49086930-49086931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541745004	chr2:49086932-49086933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75404960	chr2:49086938-49086939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375428202	chr2:49086942-49086943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575406073	chr2:49086978-49086979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528049668	chr2:49086990-49086991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545534986	chr2:49086993-49086994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190026471	chr2:49087004-49087005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570348954	chr2:49087007-49087008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1003464	chr2:49087011-49087012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540264608	chr2:49087014-49087015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562345659	chr2:49087020-49087021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139016113	chr2:49087024-49087025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71399093	chr2:49087037-49087038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115381530	chr2:49087049-49087050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569431358	chr2:49087052-49087053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533574246	chr2:49087058-49087059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181170141	chr2:49087070-49087071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566990921	chr2:49087111-49087112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533920896	chr2:49087129-49087130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186401624	chr2:49087138-49087139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143039879	chr2:49087150-49087151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72823283	chr2:49087151-49087152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113666218	chr2:49087166-49087167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49086200-49087600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:49087600-49088200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:49088200-49092000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:49088400-49088800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:49089600-49090000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:49089600-49090200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:49089800-49090000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:49089800-49090200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:49090200-49095000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:49092000-49092400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:49092000-49092800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:49092000-49092800	Enhancers	Ovary	ovary
13	chr2:49092000-49093000	Enhancers	Lung	lung
14	chr2:49092600-49092800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:49092800-49098200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:49093000-49093400	Weak transcription	Lung	lung
17	chr2:49093600-49093800	Enhancers	Lung	lung
18	chr2:49095000-49095200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr2:49095200-49097600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:49097400-49097600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:49097400-49098400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:49097600-49097800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr2:49097600-49098200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:49097600-49098400	Enhancers	Fetal Stomach	stomach
25	chr2:49097600-49098600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:49097800-49098000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:49097800-49098000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:49097800-49098400	Enhancers	Brain Germinal Matrix	brain
29	chr2:49097800-49098600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:49098000-49098200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:49098200-49098600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:49098200-49098600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:49098600-49098800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:49099600-49101000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:49100600-49101000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:49102000-49102200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:49107200-49115400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:49111000-49112400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:49111600-49111800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:49112400-49115000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:49114000-49116200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:49114200-49114400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:49114200-49116000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:49114200-49116200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:49114400-49115000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:49114800-49116200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:49114800-49116200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:49115000-49115600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:49115000-49116000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:49115200-49116000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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