Variant report

Variant	nsv428654
Chromosome Location	chr2:49599436-49754193
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	chr2:49717623..49718402-chr4:155728129..155728848,2	MCF-7	breast:
2	chr2:49173283..49174235-chr2:49717706..49718797,6	MCF-7	breast:
3	chr2:49482602..49483344-chr2:49717972..49718732,2	MCF-7	breast:
4	chr2:49720297..49721154-chr7:156196377..156197235,2	MCF-7	breast:
5	chr2:49271536..49272486-chr2:49717616..49718379,2	MCF-7	breast:
6	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
7	chr2:48827218..48827809-chr2:49717926..49718495,2	MCF-7	breast:
8	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:

No data

Extended variants
information (count: 1181 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1181 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562313770	chr2:49599468-49599469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529513863	chr2:49599484-49599485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111831523	chr2:49599488-49599489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551251721	chr2:49599510-49599511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146768240	chr2:49599528-49599529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539428690	chr2:49599529-49599530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551426702	chr2:49599533-49599534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566544868	chr2:49599539-49599540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7583216	chr2:49599540-49599541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2696150	chr2:49599577-49599578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567458741	chr2:49599579-49599580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140506740	chr2:49599590-49599591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181965357	chr2:49599642-49599643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577544271	chr2:49599646-49599647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187610730	chr2:49599653-49599654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545764129	chr2:49599654-49599655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189755687	chr2:49599674-49599675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142147453	chr2:49599684-49599685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201432548	chr2:49599687-49599688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199911258	chr2:49599688-49599689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531695512	chr2:49599697-49599698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2704352	chr2:49599735-49599736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181046826	chr2:49599750-49599751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185352623	chr2:49599752-49599753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529483094	chr2:49599753-49599754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190059114	chr2:49599891-49599892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138158505	chr2:49599949-49599950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2556405	chr2:49599960-49599961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540429705	chr2:49599969-49599970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566484371	chr2:49599973-49599974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527350015	chr2:49599994-49599995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549061574	chr2:49599996-49599997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199751085	chr2:49600017-49600018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567282923	chr2:49600022-49600023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539409554	chr2:49600068-49600069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538021720	chr2:49600107-49600108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183369728	chr2:49600125-49600126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571173773	chr2:49600145-49600146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538551772	chr2:49600160-49600161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375160440	chr2:49600170-49600171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71401016	chr2:49600252-49600253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79195635	chr2:49600257-49600258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371211716	chr2:49600348-49600349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188248845	chr2:49600358-49600359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572760276	chr2:49600374-49600375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs817014	chr2:49600383-49600384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113885780	chr2:49600395-49600396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192029644	chr2:49600410-49600411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs817015	chr2:49600423-49600424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs571371855	chr2:49600527-49600528	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49598600-49601000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:49601000-49601600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49603400-49603800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:49603800-49604400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:49604000-49604600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:49604200-49605200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:49604400-49604600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:49610000-49610200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:49610200-49610600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:49610600-49610800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:49610800-49611000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:49611000-49611200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:49627400-49627600	Enhancers	Brain Germinal Matrix	brain
14	chr2:49628800-49629000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:49629200-49630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:49630000-49631600	Enhancers	Brain Germinal Matrix	brain
17	chr2:49630400-49631200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:49630400-49631400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:49630400-49632400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:49630600-49632000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:49630600-49632200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:49630600-49632200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:49630800-49631600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:49630800-49632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:49630800-49632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:49631200-49631600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:49631400-49631800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:49631600-49632000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:49631800-49632000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:49649200-49649600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:49653600-49654600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:49654000-49654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:49654000-49655000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:49654000-49655200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:49654200-49655000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:49665200-49666000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:49665200-49666400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:49665400-49665600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:49665400-49665800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:49666200-49666400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:49670400-49671600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:49671600-49672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:49672800-49673000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:49692400-49692800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:49692600-49699600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:49699400-49700000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:49699600-49700000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:49699600-49700000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:49716400-49717400	Enhancers	Stomach Smooth Muscle	stomach
50	chr2:49728000-49728600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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