Variant report

Variant	nsv979386
Chromosome Location	chr2:66923587-66929224
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:6)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:66915478..66917082-chr2:66920973..66923826,2	MCF-7	breast:
2	chr2:66924129..66926148-chr2:66928849..66931547,2	K562	blood:
3	chr2:66919319..66922022-chr2:66923569..66925465,2	K562	blood:
4	chr2:66922412..66924647-chr2:66925905..66928525,2	MCF-7	breast:
5	chr2:66925937..66928406-chr2:66932808..66935703,2	MCF-7	breast:
6	chr2:66922412..66924647-chr2:66925905..66928525,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MEIS1-3	chr2:66923662-66923859	NONHSAT071240
2	lnc-SPRED2-7	chr2:66927043-66927526	XLOC_002140
3	lnc-SPRED2-7	chr2:66927043-66927240	NR_110265
4	lnc-SPRED2-7	chr2:66924257-66924427	XLOC_002140
5	lnc-SPRED2-7	chr2:66924162-66924427	NR_110264
6	lnc-SPRED2-7	chr2:66924294-66924427	XLOC_002140
7	lnc-SPRED2-7	chr2:66927043-66927240	XLOC_002140
8	lnc-SPRED2-7	chr2:66924290-66924427	XLOC_002140
9	lnc-SPRED2-7	chr2:66927043-66927526	NR_110264
10	lnc-MEIS1-3	chr2:66924580-66924635	XLOC_001508
11	lnc-MEIS1-3	chr2:66924580-66924635	XLOC_001508
12	lnc-SPRED2-7	chr2:66924162-66924427	NR_110265

No data

Variant related genes	Relation type
ENSG00000232046	chromatin interactions
ENSG00000237179	chromatin interactions
NCOA3	miRNA target sites
BCL2L11	miRNA target sites

Extended variants
information (count: 188 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139006305	chr2:66923600-66923601	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376811250	chr2:66923642-66923643	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189114085	chr2:66923684-66923685	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs545263384	chr2:66923729-66923730	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs565070273	chr2:66923745-66923746	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs530854762	chr2:66923751-66923752	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs550878426	chr2:66923754-66923755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs369310867	chr2:66923757-66923758	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs80013649	chr2:66923763-66923764	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs376869614	chr2:66923782-66923783	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs529676847	chr2:66923789-66923790	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs546526789	chr2:66923805-66923806	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs192211821	chr2:66923822-66923823	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs538345297	chr2:66923823-66923824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs552384382	chr2:66923858-66923859	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs142976213	chr2:66923865-66923866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538015080	chr2:66923946-66923947	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34998144	chr2:66923952-66923953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554864898	chr2:66923962-66923963	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79539762	chr2:66923966-66923967	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs397869553	chr2:66923967-66923968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183705945	chr2:66924016-66924017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555718634	chr2:66924018-66924019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147227575	chr2:66924058-66924059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11126091	chr2:66924071-66924072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577312878	chr2:66924144-66924145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546296778	chr2:66924190-66924191	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs559873183	chr2:66924219-66924220	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs558822178	chr2:66924342-66924343	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs528609081	chr2:66924411-66924412	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs575522429	chr2:66924499-66924500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568918247	chr2:66924528-66924529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188420960	chr2:66924604-66924605	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs544391077	chr2:66924608-66924609	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs35783449	chr2:66924621-66924622	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs548335107	chr2:66924659-66924660	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181249029	chr2:66924717-66924718	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529957192	chr2:66924736-66924737	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538050773	chr2:66924762-66924763	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539897050	chr2:66924856-66924857	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374210636	chr2:66924873-66924874	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538637501	chr2:66924952-66924953	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532113213	chr2:66924982-66924983	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34387891	chr2:66924984-66924985	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551872785	chr2:66925035-66925036	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs61479688	chr2:66925036-66925037	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs74600789	chr2:66925121-66925122	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184340558	chr2:66925160-66925161	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568701250	chr2:66925197-66925198	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557766668	chr2:66925203-66925204	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:66919000-66927000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:66919200-66925200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:66919200-66927200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:66919200-66929000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:66920400-66925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:66920400-66927000	Weak transcription	Fetal Intestine Large	intestine
7	chr2:66920600-66925000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:66921200-66926800	Enhancers	Fetal Kidney	kidney
9	chr2:66921400-66924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:66921400-66924800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:66921400-66925200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:66921400-66925400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:66921400-66927800	Enhancers	Fetal Stomach	stomach
14	chr2:66921600-66924400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:66921600-66926200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:66921800-66926600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:66922200-66924000	Enhancers	Brain Germinal Matrix	brain
18	chr2:66922200-66924600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:66922400-66924800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:66922800-66924600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:66922800-66925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:66923000-66925000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:66923200-66923600	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr2:66923200-66923600	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:66923400-66923800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr2:66923400-66924000	Flanking Active TSS	Fetal Lung	lung
27	chr2:66923600-66924000	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr2:66923600-66924200	Enhancers	Colon Smooth Muscle	Colon
29	chr2:66923800-66924000	Enhancers	Fetal Intestine Small	intestine
30	chr2:66923800-66924600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:66924000-66925000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:66924000-66926000	Enhancers	Fetal Lung	lung
33	chr2:66924000-66927200	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:66924200-66924600	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:66924400-66926800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:66924600-66925200	Enhancers	Colon Smooth Muscle	Colon
37	chr2:66924600-66926000	Active TSS	Stomach Smooth Muscle	stomach
38	chr2:66924600-66926800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:66924600-66929000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:66924800-66927000	Enhancers	Brain Substantia Nigra	brain
41	chr2:66924800-66927800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:66924800-66929000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:66924800-66929800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:66925000-66925400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:66925000-66926800	Enhancers	Brain Germinal Matrix	brain
46	chr2:66925000-66929600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:66925200-66925400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:66925200-66925600	Active TSS	Brain Anterior Caudate	brain
49	chr2:66925200-66925600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr2:66925200-66926200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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