Variant report

Variant	nsv1012441
Chromosome Location	chr2:49581384-49804591
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:49271536..49272486-chr2:49717616..49718379,2	MCF-7	breast:
2	chr2:49482602..49483344-chr2:49717972..49718732,2	MCF-7	breast:
3	chr2:49720297..49721154-chr7:156196377..156197235,2	MCF-7	breast:
4	chr2:49778479..49781327-chr2:49781867..49783960,2	K562	blood:
5	chr2:48827218..48827809-chr2:49717926..49718495,2	MCF-7	breast:
6	chr2:49173283..49174235-chr2:49717706..49718797,6	MCF-7	breast:
7	chr2:49717623..49718402-chr4:155728129..155728848,2	MCF-7	breast:
8	chr2:49778479..49781327-chr2:49781867..49783960,2	K562	blood:
9	chr2:49586512..49588631-chr2:49595229..49597558,2	K562	blood:
10	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
11	chr2:49586512..49588631-chr2:49595229..49597558,2	K562	blood:
12	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:

No data

Extended variants
information (count: 1979 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1979 , 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	rs531537286	chr2:49583209-49583210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149031774	chr2:49583217-49583218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143041149	chr2:49583237-49583238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373369888	chr2:49583265-49583266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533225225	chr2:49583332-49583333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374782528	chr2:49583335-49583336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535852545	chr2:49583351-49583352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188865019	chr2:49583359-49583360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181718285	chr2:49583362-49583363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs817071	chr2:49583402-49583403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs148215306	chr2:49583408-49583409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187154735	chr2:49583447-49583448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538567372	chr2:49583500-49583501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192125605	chr2:49583510-49583511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182142956	chr2:49583511-49583512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538688022	chr2:49583515-49583516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553590488	chr2:49583541-49583542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543464131	chr2:49583568-49583569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572151661	chr2:49583619-49583620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542445783	chr2:49583620-49583621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558882263	chr2:49583650-49583651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554375973	chr2:49583668-49583669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs817070	chr2:49583674-49583675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs543334084	chr2:49583677-49583678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562507748	chr2:49583701-49583702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558285261	chr2:49583711-49583712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533181051	chr2:49583749-49583750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545432994	chr2:49583750-49583751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62162812	chr2:49583754-49583755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112952253	chr2:49583781-49583782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11379318	chr2:49583783-49583784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368314955	chr2:49583784-49583785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560374993	chr2:49583841-49583842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527820941	chr2:49583862-49583863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111849701	chr2:49583869-49583870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567883826	chr2:49583871-49583872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541302363	chr2:49583908-49583909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150329186	chr2:49583927-49583928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376347851	chr2:49583932-49583933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138066483	chr2:49583969-49583970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529833071	chr2:49583988-49583989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185977186	chr2:49584004-49584005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538251434	chr2:49584046-49584047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553768277	chr2:49584049-49584050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72884902	chr2:49584080-49584081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs72835110	chr2:49584083-49584084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368994563	chr2:49584097-49584098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374253852	chr2:49584105-49584106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536905069	chr2:49584146-49584147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558431400	chr2:49584157-49584158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49583200-49583400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:49583200-49583400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:49583400-49586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:49583400-49587600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:49585400-49585600	Enhancers	Fetal Brain Female	brain
6	chr2:49585600-49586600	Weak transcription	Fetal Brain Female	brain
7	chr2:49586400-49587800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:49586400-49588000	Enhancers	Fetal Brain Male	brain
9	chr2:49586600-49587200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:49586600-49587600	Enhancers	Fetal Brain Female	brain
11	chr2:49586600-49588000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:49586600-49588800	Enhancers	Brain Germinal Matrix	brain
13	chr2:49587000-49587400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:49587000-49587800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:49587000-49588000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:49587000-49588000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:49587200-49587800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:49587200-49588000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:49587400-49587800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:49587600-49588000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:49587800-49588000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:49593000-49593200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:49593200-49593800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:49593800-49594200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:49594000-49594400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:49594200-49594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:49594400-49595400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:49594400-49597600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:49594800-49595400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:49595400-49596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:49595600-49595800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:49596000-49596400	Enhancers	Fetal Brain Female	brain
33	chr2:49596200-49598600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:49596800-49597000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:49597000-49598000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:49597000-49598000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:49597600-49598000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:49598000-49598400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:49598000-49598600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:49598000-49598800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:49598200-49598400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:49598600-49601000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:49599000-49599200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:49601000-49601600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:49603400-49603800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:49603800-49604400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:49604000-49604600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:49604200-49605200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:49604400-49604600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:49610000-49610200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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