Variant report

Variant	nsv1010658
Chromosome Location	chr2:34200798-34240744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
2	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
3	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
4	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
5	chr10:124597456..124597958-chr2:34237773..34238411,2	MCF-7	breast:
6	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138161	chromatin interactions

Extended variants
information (count: 400 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35687904	chr2:34208608-34208609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114141969	chr2:34208624-34208625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183953835	chr2:34208631-34208632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546854912	chr2:34208635-34208636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144802437	chr2:34208637-34208638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535639671	chr2:34208697-34208698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7561099	chr2:34208720-34208721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73926826	chr2:34208726-34208727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78783673	chr2:34208805-34208806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7561205	chr2:34208809-34208810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577148429	chr2:34208816-34208817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116165609	chr2:34208820-34208821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553241989	chr2:34208929-34208930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115192645	chr2:34208937-34208938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368496859	chr2:34208962-34208963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543111876	chr2:34208986-34208987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188236170	chr2:34209007-34209008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561461648	chr2:34209008-34209009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116750035	chr2:34209050-34209051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559494692	chr2:34209070-34209071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530211311	chr2:34209072-34209073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181521278	chr2:34209097-34209098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532930019	chr2:34209100-34209101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141898629	chr2:34209109-34209110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551725099	chr2:34212413-34212414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565317255	chr2:34212423-34212424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530008931	chr2:34212425-34212426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569580157	chr2:34212444-34212445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554435556	chr2:34212493-34212494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80016494	chr2:34212517-34212518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140344359	chr2:34212589-34212590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184287447	chr2:34212597-34212598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78870517	chr2:34212671-34212672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143536638	chr2:34212675-34212676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189583944	chr2:34212708-34212709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536742712	chr2:34212719-34212720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572461964	chr2:34212736-34212737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181339319	chr2:34212744-34212745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139633127	chr2:34212745-34212746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148064784	chr2:34212757-34212758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202061686	chr2:34212759-34212760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199774194	chr2:34212774-34212775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553547944	chr2:34212779-34212780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115432266	chr2:34212783-34212784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72785221	chr2:34222414-34222415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78642939	chr2:34222436-34222437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs66865003	chr2:34222445-34222446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541582840	chr2:34222449-34222450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs188227885	chr2:34222538-34222539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs75493943	chr2:34222546-34222547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34208600-34209200	Enhancers	Fetal Brain Male	brain
2	chr2:34212400-34212800	Enhancers	Placenta	Placenta
3	chr2:34222400-34222600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:34222600-34223000	ZNF genes & repeats	Pancreas	Pancrea
5	chr2:34228200-34228600	Enhancers	Brain Cingulate Gyrus	brain
6	chr2:34228600-34229000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:34228800-34229000	Enhancers	Brain Germinal Matrix	brain
8	chr2:34228800-34229000	Enhancers	Brain Hippocampus Middle	brain
9	chr2:34228800-34229000	Enhancers	Brain Substantia Nigra	brain
10	chr2:34228800-34229200	Enhancers	Brain Anterior Caudate	brain
11	chr2:34229000-34229200	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:34229000-34229600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:34229000-34230200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:34229000-34231400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:34229200-34229800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:34229200-34230000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:34229600-34231400	Enhancers	Brain Substantia Nigra	brain
18	chr2:34229800-34230000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:34229800-34230000	Active TSS	Brain Hippocampus Middle	brain
20	chr2:34229800-34230400	Active TSS	Brain Angular Gyrus	brain
21	chr2:34229800-34230400	Active TSS	Brain Anterior Caudate	brain
22	chr2:34229800-34230400	Active TSS	Brain Germinal Matrix	brain
23	chr2:34229800-34231400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:34230000-34230200	Active TSS	Brain Cingulate Gyrus	brain
25	chr2:34230000-34230400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:34230000-34230400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:34230000-34230400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr2:34230000-34230400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:34230200-34230400	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr2:34230200-34230600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr2:34230400-34230600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:34230400-34231000	Enhancers	Brain Anterior Caudate	brain
33	chr2:34230400-34231200	Enhancers	Brain Angular Gyrus	brain
34	chr2:34230400-34231200	Enhancers	Brain Germinal Matrix	brain
35	chr2:34230400-34231400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:34230400-34231400	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:34230400-34231600	Enhancers	Brain Hippocampus Middle	brain
38	chr2:34230600-34231200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:34236800-34237800	Enhancers	Fetal Lung	lung
40	chr2:34237400-34237800	Enhancers	Brain Hippocampus Middle	brain
41	chr2:34237400-34237800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:34237400-34238200	Enhancers	Fetal Stomach	stomach
43	chr2:34237600-34238200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:34237600-34238200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:34237600-34238200	Enhancers	Brain Anterior Caudate	brain
46	chr2:34237600-34238200	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:34237600-34238200	Enhancers	Fetal Kidney	kidney
48	chr2:34237600-34238200	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:34237800-34238200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:34237800-34238200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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