Variant report

Variant	esv7371
Chromosome Location	chr2:179300874-179308087
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:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179305258..179308084-chr2:179346457..179348096,2	K562	blood:
2	chr2:179300899..179302937-chr2:179304011..179306513,2	MCF-7	breast:
3	chr2:179300899..179302937-chr2:179304011..179306513,2	MCF-7	breast:
4	chr2:179295469..179297906-chr2:179298991..179302357,3	K562	blood:
5	chr2:179302261..179305196-chr2:179309738..179312915,3	MCF-7	breast:
6	chr2:179300231..179302322-chr2:179314944..179317660,2	K562	blood:
7	chr2:179300899..179303162-chr2:179305557..179309228,4	K562	blood:
8	chr2:179299041..179302818-chr2:179314141..179317031,3	MCF-7	breast:
9	chr2:179303833..179306841-chr2:179307173..179311625,3	MCF-7	breast:
10	chr2:179303928..179307176-chr2:179308029..179310262,3	K562	blood:
11	chr2:179300488..179302141-chr2:179341849..179344331,2	K562	blood:
12	chr2:179293591..179296223-chr2:179303267..179306036,4	K562	blood:
13	chr2:179292206..179295495-chr2:179302898..179306036,3	K562	blood:
14	chr2:179293578..179297906-chr2:179298629..179301854,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSBPL6-2	chr2:179303594-179304970	ENSG00000223960.2
2	lnc-OSBPL6-2	chr2:179303594-179303866	ENSG00000223960
3	lnc-OSBPL6-2	chr2:179303594-179304970	NR_110204

No data

Variant related genes	Relation type
ENSG00000079150	chromatin interactions
ENSG00000204311	chromatin interactions
ENSG00000180228	chromatin interactions
ENSG00000116095	chromatin interactions
CRK	miRNA target sites

Extended variants
information (count: 249 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200029319	chr2:179300875-179300876	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs533650971	chr2:179300921-179300922	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373322166	chr2:179300924-179300925	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs200299118	chr2:179300927-179300928	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201935204	chr2:179300933-179300934	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs62176107	chr2:179300971-179300972	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs77419724	chr2:179300979-179300980	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs121434410	chr2:179300991-179300992	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs138320145	chr2:179301056-179301057	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs35453479	chr2:179301059-179301060	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs193157677	chr2:179301081-179301082	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs184633345	chr2:179301134-179301135	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs531477656	chr2:179301135-179301136	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs187225059	chr2:179301178-179301179	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs151206030	chr2:179301265-179301266	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs575511280	chr2:179301295-179301296	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs553399545	chr2:179301333-179301334	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs116178642	chr2:179301337-179301338	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs140305638	chr2:179301433-179301434	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs146971186	chr2:179301451-179301452	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561489257	chr2:179301482-179301483	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs564756240	chr2:179301533-179301534	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs530430258	chr2:179301534-179301535	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs115253411	chr2:179301586-179301587	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs532118054	chr2:179301590-179301591	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs561355755	chr2:179301628-179301629	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs528975921	chr2:179301642-179301643	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs376640973	chr2:179301668-179301669	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs80196995	chr2:179301740-179301741	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs533410113	chr2:179301745-179301746	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs369768283	chr2:179301761-179301762	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs191353804	chr2:179301785-179301786	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs540321145	chr2:179301789-179301790	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs528087768	chr2:179301829-179301830	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs183890025	chr2:179301865-179301866	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs2059691	chr2:179301884-179301885	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147592993	chr2:179301894-179301895	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs570755554	chr2:179301909-179301910	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs550737298	chr2:179301917-179301918	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs200085584	chr2:179302115-179302116	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs567394922	chr2:179302118-179302119	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs189446386	chr2:179302119-179302120	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs547124248	chr2:179302194-179302195	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs142048356	chr2:179302264-179302265	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539053961	chr2:179302288-179302289	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs182311318	chr2:179302313-179302314	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569098638	chr2:179302336-179302337	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs57164203	chr2:179302427-179302428	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538194805	chr2:179302428-179302429	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531618843	chr2:179302448-179302449	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
2	chr2:179280000-179305200	Weak transcription	Fetal Brain Male	brain
3	chr2:179280000-179310600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:179290800-179312000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:179290800-179312600	Strong transcription	Dnd41	blood
8	chr2:179291000-179311600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:179291200-179301200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:179291200-179303200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:179291200-179303200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:179291200-179303800	Strong transcription	Primary T cells from cord blood	blood
16	chr2:179291200-179306200	Strong transcription	Fetal Brain Female	brain
17	chr2:179291200-179310400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:179291200-179312200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
23	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:179291400-179303000	Strong transcription	A549	lung
25	chr2:179291400-179311400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:179291400-179312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:179291400-179313400	Strong transcription	HSMM	muscle
29	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:179291600-179301000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr2:179291600-179305800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:179291600-179312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:179291600-179312800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:179291600-179312800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:179291600-179313200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:179291600-179313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:179291600-179313600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:179291800-179301000	Strong transcription	HSMMtube	muscle
39	chr2:179291800-179301200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:179291800-179301200	Strong transcription	Fetal Lung	lung
41	chr2:179291800-179313000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:179291800-179314000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:179292000-179301200	Strong transcription	NH-A	brain
44	chr2:179292000-179314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:179292200-179303200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:179292400-179312800	Weak transcription	Fetal Heart	heart
47	chr2:179292600-179301800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:179292800-179305800	Strong transcription	Osteobl	bone
49	chr2:179293200-179312600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:179293400-179306000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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