Variant report

Variant	nsv582096
Chromosome Location	chr2:58196110-58237724
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:58217212..58219240-chr2:58272255..58275119,3	MCF-7	breast:
2	chr2:58202481..58205447-chr2:58273853..58275845,2	K562	blood:
3	chr2:58190476..58193185-chr2:58195225..58197581,2	K562	blood:
4	chr2:58195024..58197060-chr2:58197632..58200151,2	K562	blood:
5	chr2:58199246..58201497-chr2:58205167..58207158,2	K562	blood:
6	chr2:58208443..58211006-chr2:58214388..58216999,2	MCF-7	breast:
7	chr2:58199993..58202992-chr5:145207291..145209292,2	K562	blood:
8	chr2:58208443..58211006-chr2:58214388..58216999,2	MCF-7	breast:
9	chr2:58221093..58222729-chr2:58225692..58227656,2	K562	blood:
10	chr2:58195024..58197060-chr2:58197632..58200151,2	K562	blood:
11	chr2:58213221..58214916-chr2:58272774..58274711,2	MCF-7	breast:
12	chr2:58199246..58201497-chr2:58205167..58207158,2	K562	blood:
13	chr2:58235603..58239393-chr2:58272093..58275370,6	MCF-7	breast:
14	chr2:58230955..58233450-chr2:58273896..58276071,2	MCF-7	breast:
15	chr2:58221093..58222729-chr2:58225692..58227656,2	K562	blood:
16	chr2:58219444..58221861-chr2:58272134..58274899,2	MCF-7	breast:
17	chr2:58188921..58191161-chr2:58194291..58197130,2	MCF-7	breast:
18	chr2:58225905..58228686-chr2:58272186..58273740,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-1	chr2:58236367-58240741	NONHSAT070845
2	lnc-FANCL-1	chr2:58236367-58240741	ENSG00000250445

No data

Variant related genes	Relation type
ENSG00000028116	chromatin interactions
PNN	miRNA target sites

Extended variants
information (count: 1194 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1194 , 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	rs2030237	chr2:58196110-58196111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563244878	chr2:58196112-58196113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576400068	chr2:58196132-58196133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188700461	chr2:58196153-58196154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529130809	chr2:58196181-58196182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192002310	chr2:58196233-58196234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530229766	chr2:58196261-58196262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560672970	chr2:58196264-58196265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372512355	chr2:58196268-58196269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528139738	chr2:58196397-58196398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540321541	chr2:58196415-58196416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565004502	chr2:58196452-58196453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114029884	chr2:58196454-58196455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550471827	chr2:58196498-58196499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569047864	chr2:58196586-58196587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529902651	chr2:58196596-58196597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs932188	chr2:58196627-58196628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562640753	chr2:58196648-58196649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566521652	chr2:58196693-58196694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185238531	chr2:58196730-58196731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190515258	chr2:58196766-58196767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551479467	chr2:58196869-58196870	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182222053	chr2:58196899-58196900	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs77631263	chr2:58196903-58196904	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184395994	chr2:58196919-58196920	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537965504	chr2:58196931-58196932	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2717045	chr2:58196983-58196984	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs115437837	chr2:58197005-58197006	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574978686	chr2:58197015-58197016	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542155430	chr2:58197078-58197079	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs527271475	chr2:58197092-58197093	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs200081586	chr2:58197093-58197094	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs138746568	chr2:58197210-58197211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572860541	chr2:58197290-58197291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs966721	chr2:58197305-58197306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs202055166	chr2:58197331-58197332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564893483	chr2:58197362-58197363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188302554	chr2:58197377-58197378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2312146	chr2:58197406-58197407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12622856	chr2:58197434-58197435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529942685	chr2:58197440-58197441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144423903	chr2:58197450-58197451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560044193	chr2:58197568-58197569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536519013	chr2:58197574-58197575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552118839	chr2:58197610-58197611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199700880	chr2:58197683-58197684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148868740	chr2:58197684-58197685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3074042	chr2:58197685-58197686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569896001	chr2:58197853-58197854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370962671	chr2:58197872-58197873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58194000-58196200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:58195800-58196800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:58195800-58196800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:58196200-58198800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:58196800-58197000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:58196800-58197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:58196800-58197200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:58196800-58197200	Active TSS	Brain Substantia Nigra	brain
9	chr2:58196800-58197200	Active TSS	NH-A	brain
10	chr2:58200600-58201000	Active TSS	Primary B cells from cord blood	blood
11	chr2:58200800-58201200	Enhancers	GM12878-XiMat	blood
12	chr2:58201000-58212200	Weak transcription	Primary B cells from cord blood	blood
13	chr2:58206400-58206800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:58206400-58207000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:58206400-58207000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:58206600-58207000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:58207600-58209600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:58208000-58208400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:58208000-58209200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:58208000-58209600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:58208000-58209600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:58208000-58209600	Enhancers	Osteobl	bone
23	chr2:58208200-58209200	Enhancers	NH-A	brain
24	chr2:58208400-58208600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr2:58208400-58209000	Enhancers	NHDF-Ad	bronchial
26	chr2:58208400-58209200	Enhancers	A549	lung
27	chr2:58208400-58209200	Enhancers	Hela-S3	cervix
28	chr2:58208600-58208800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:58208800-58209000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:58209000-58209600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:58209200-58209600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:58209400-58209800	Enhancers	Esophagus	oesophagus
33	chr2:58209600-58214800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:58209600-58214800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:58210200-58210600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:58210600-58210800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:58210800-58211800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:58214800-58215200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:58214800-58215800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:58215000-58215800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:58217000-58217600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:58217000-58217600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:58217000-58217800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:58217200-58217600	Enhancers	Adipose Nuclei	Adipose
45	chr2:58217200-58217800	Enhancers	Brain Substantia Nigra	brain
46	chr2:58217400-58217800	Enhancers	Brain Angular Gyrus	brain
47	chr2:58217600-58220600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:58217800-58219400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:58219400-58219600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:58219600-58220000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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