Variant report

Variant	nsv582169
Chromosome Location	chr2:66936494-66959919
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:88876850..88878573-chr2:66934490..66936924,2	MCF-7	breast:
2	chr2:66939751..66942295-chr2:66944514..66947455,2	K562	blood:
3	chr2:66939751..66942295-chr2:66944514..66947455,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MEIS1-3	chr2:66940582-66940673	XLOC_001508
2	lnc-MEIS1-3	chr2:66940582-66940673	XLOC_001508
3	lnc-MEIS1-3	chr2:66957071-66957289	XLOC_001508
4	lnc-MEIS1-3	chr2:66942527-66942762	XLOC_001508

No data

Variant related genes	Relation type
ENSG00000198931	chromatin interactions
BCL2L11	miRNA target sites

Extended variants
information (count: 828 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6705424	chr2:66936494-66936495	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544707752	chr2:66936498-66936499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567392602	chr2:66936516-66936517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544661443	chr2:66936518-66936519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554738853	chr2:66936550-66936551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6719120	chr2:66936560-66936561	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542804626	chr2:66936696-66936697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187152722	chr2:66936697-66936698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192006712	chr2:66936764-66936765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144823508	chr2:66936788-66936789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564884857	chr2:66936827-66936828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530388714	chr2:66936871-66936872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113223511	chr2:66936906-66936907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72826703	chr2:66936917-66936918	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147918586	chr2:66936923-66936924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369052097	chr2:66936927-66936928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530239614	chr2:66936964-66936965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546780165	chr2:66936977-66936978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566869562	chr2:66937019-66937020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141666542	chr2:66937040-66937041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538924948	chr2:66937115-66937116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552560247	chr2:66937187-66937188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184241834	chr2:66937191-66937192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376653657	chr2:66937205-66937206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77342052	chr2:66937206-66937207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555056350	chr2:66937231-66937232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10490191	chr2:66937329-66937330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs536500672	chr2:66937368-66937369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553185369	chr2:66937408-66937409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573212134	chr2:66937430-66937431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10490192	chr2:66937486-66937487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs565002820	chr2:66937490-66937491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150422471	chr2:66937522-66937523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145236687	chr2:66937530-66937531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560689448	chr2:66937534-66937535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149148008	chr2:66937549-66937550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370720004	chr2:66937562-66937563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73935940	chr2:66937563-66937564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546818776	chr2:66937603-66937604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560297743	chr2:66937639-66937640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532570573	chr2:66937709-66937710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75299943	chr2:66937806-66937807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115161353	chr2:66937823-66937824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538280555	chr2:66937835-66937836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11884251	chr2:66937841-66937842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10865357	chr2:66937856-66937857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376821090	chr2:66937906-66937907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371197164	chr2:66937910-66937911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554276997	chr2:66937948-66937949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560741131	chr2:66937975-66937976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:66929200-66945000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:66931400-66944800	Weak transcription	Fetal Stomach	stomach
3	chr2:66932200-66945000	Weak transcription	Fetal Lung	lung
4	chr2:66942800-66945400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:66942800-66945600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:66943200-66943400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:66943200-66943400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:66943400-66943600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:66943400-66943600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:66943600-66945000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:66943600-66945200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:66943600-66945400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:66944400-66945000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:66944400-66945400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:66944400-66945400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:66944400-66945400	Enhancers	NH-A	brain
17	chr2:66944400-66945600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:66944600-66944800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:66944600-66945000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:66944600-66945200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:66944600-66945600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:66944800-66945200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:66944800-66945400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:66944800-66945400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:66944800-66945400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:66944800-66945400	Enhancers	Fetal Stomach	stomach
27	chr2:66944800-66945600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:66944800-66945600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:66944800-66945600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:66945000-66945200	Enhancers	Colon Smooth Muscle	Colon
31	chr2:66945000-66945400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr2:66945000-66945400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:66945000-66945400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:66945000-66945400	Enhancers	Fetal Lung	lung
35	chr2:66945000-66945600	Enhancers	Primary hematopoietic stem cells	blood
36	chr2:66945200-66945400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:66945200-66945400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:66945200-66947000	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:66945400-66945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:66945400-66950800	Weak transcription	Fetal Stomach	stomach
41	chr2:66945400-66951000	Weak transcription	Fetal Lung	lung
42	chr2:66945600-66948600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:66945600-66951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:66948600-66949000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:66950800-66951000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:66951000-66952000	Enhancers	Fetal Lung	lung
47	chr2:66951000-66952400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:66951000-66955800	Weak transcription	Fetal Stomach	stomach
49	chr2:66951400-66951600	Enhancers	Ovary	ovary
50	chr2:66951400-66952200	Enhancers	HUES48 Cell Line	embryonic stem cell

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