Variant report

Variant	esv3458766
Chromosome Location	chr2:179296982-179300874
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:10)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179300488..179302141-chr2:179341849..179344331,2	K562	blood:
2	chr2:179293578..179297906-chr2:179298629..179301854,4	K562	blood:
3	chr2:179296734..179298394-chr2:179344254..179346093,2	K562	blood:
4	chr2:179295469..179297906-chr2:179298991..179302357,3	K562	blood:
5	chr2:179293578..179297906-chr2:179298629..179301854,4	K562	blood:
6	chr2:179295469..179297906-chr2:179298991..179302357,3	K562	blood:
7	chr2:179290293..179297501-chr2:179307356..179318778,14	K562	blood:
8	chr2:179285238..179287565-chr2:179296819..179299429,2	K562	blood:
9	chr2:179300231..179302322-chr2:179314944..179317660,2	K562	blood:
10	chr2:179299041..179302818-chr2:179314141..179317031,3	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSBPL6-2	chr2:179298109-179298202	ENSG00000223960.2
2	lnc-OSBPL6-2	chr2:179298109-179298202	NR_110204
3	lnc-OSBPL6-2	chr2:179298109-179298818	NR_110205
4	lnc-OSBPL6-2	chr2:179298109-179298716	ENSG00000223960
5	lnc-OSBPL6-2	chr2:179298109-179300598	NONHSAT075748
6	lnc-OSBPL6-2	chr2:179298109-179298202	ENSG00000223960
7	lnc-OSBPL6-2	chr2:179298109-179298818	NR_110206
8	lnc-OSBPL6-2	chr2:179298109-179300598	NONHSAT075747
9	lnc-OSBPL6-2	chr2:179298109-179298242	ENSG00000223960
10	lnc-OSBPL6-2	chr2:179298109-179300598	NONHSAT075744
11	lnc-OSBPL6-2	chr2:179296897-179297009	ENSG00000223960
12	lnc-OSBPL6-2	chr2:179298109-179300598	NONHSAT075745
13	lnc-OSBPL6-2	chr2:179298109-179298818	ENSG00000223960.2

No data

Variant related genes	Relation type
ENSG00000204311	chromatin interactions
ENSG00000116095	chromatin interactions
ENSG00000079150	chromatin interactions
ENSG00000180228	chromatin interactions
ARHGAP12	miRNA target sites
HAUS6	miRNA target sites
TWF1	miRNA target sites
ARL4C	miRNA target sites

Extended variants
information (count: 139 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376387624	chr2:179296984-179296985	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs187844971	chr2:179297086-179297087	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs577195572	chr2:179297106-179297107	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs191949456	chr2:179297107-179297108	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546161861	chr2:179297111-179297112	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs562700543	chr2:179297150-179297151	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531409972	chr2:179297273-179297274	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs185305697	chr2:179297278-179297279	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs562062377	chr2:179297416-179297417	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs527807977	chr2:179297429-179297430	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs547370694	chr2:179297458-179297459	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs546456694	chr2:179297492-179297493	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs113961694	chr2:179297502-179297503	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566694139	chr2:179297506-179297507	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570551414	chr2:179297595-179297596	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533440990	chr2:179297598-179297599	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550208549	chr2:179297669-179297670	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570188995	chr2:179297701-179297702	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535685180	chr2:179297729-179297730	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554623984	chr2:179297742-179297743	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572787898	chr2:179297751-179297752	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73034398	chr2:179297774-179297775	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188179809	chr2:179297803-179297804	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576960483	chr2:179297810-179297811	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6739142	chr2:179297824-179297825	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs200262334	chr2:179297867-179297868	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556194696	chr2:179297878-179297879	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192784343	chr2:179297904-179297905	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73034401	chr2:179297949-179297950	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372652880	chr2:179297979-179297980	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561952726	chr2:179298043-179298044	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527768942	chr2:179298048-179298049	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184920907	chr2:179298111-179298112	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs577683621	chr2:179298285-179298286	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs564090347	chr2:179298292-179298293	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs139874181	chr2:179298338-179298339	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs199593161	chr2:179298410-179298411	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs374146346	chr2:179298412-179298413	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs550412730	chr2:179298432-179298433	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs188097005	chr2:179298455-179298456	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs11544455	chr2:179298467-179298468	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs529622393	chr2:179298493-179298494	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs540348700	chr2:179298499-179298500	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs543224181	chr2:179298530-179298531	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs549298391	chr2:179298537-179298538	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs566319665	chr2:179298562-179298563	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs533872060	chr2:179298563-179298564	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs548049432	chr2:179298577-179298578	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs559673209	chr2:179298581-179298582	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs78141591	chr2:179298622-179298623	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179278800-179298800	Weak transcription	Small Intestine	intestine
2	chr2:179279600-179298800	Weak transcription	Colonic Mucosa	Colon
3	chr2:179279800-179299200	Weak transcription	Esophagus	oesophagus
4	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
5	chr2:179280000-179297600	Weak transcription	Hela-S3	cervix
6	chr2:179280000-179298400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:179280000-179305200	Weak transcription	Fetal Brain Male	brain
8	chr2:179280000-179310600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:179290800-179312000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:179290800-179312600	Strong transcription	Dnd41	blood
13	chr2:179291000-179300600	Strong transcription	Thymus	Thymus
14	chr2:179291000-179300800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr2:179291000-179311600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:179291200-179298400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:179291200-179299600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:179291200-179300600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:179291200-179300600	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:179291200-179300600	Strong transcription	Left Ventricle	heart
24	chr2:179291200-179301200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:179291200-179303200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:179291200-179303200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:179291200-179303800	Strong transcription	Primary T cells from cord blood	blood
28	chr2:179291200-179306200	Strong transcription	Fetal Brain Female	brain
29	chr2:179291200-179310400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:179291200-179312200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
35	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:179291400-179300800	Strong transcription	Brain Germinal Matrix	brain
37	chr2:179291400-179303000	Strong transcription	A549	lung
38	chr2:179291400-179311400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:179291400-179312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:179291400-179313400	Strong transcription	HSMM	muscle
42	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:179291600-179297200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:179291600-179301000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:179291600-179305800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:179291600-179312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:179291600-179312800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:179291600-179312800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:179291600-179313200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:179291600-179313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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