Variant report

Variant	esv3457148
Chromosome Location	chr2:178287406-178288604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178256529..178258320-chr2:178284529..178287506,2	K562	blood:

Variant related genes	Relation type
ENSG00000213963	chromatin interactions
ENSG00000116044	chromatin interactions
ENSG00000018510	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541608369	chr2:178287425-178287426	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs139178167	chr2:178287453-178287454	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs34252452	chr2:178287494-178287495	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs578235557	chr2:178287587-178287588	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543759622	chr2:178287619-178287620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560495059	chr2:178287631-178287632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372544357	chr2:178287637-178287638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112317496	chr2:178287638-178287639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374668789	chr2:178287639-178287640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548184018	chr2:178287641-178287642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186190065	chr2:178287659-178287660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527389273	chr2:178287675-178287676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547148949	chr2:178287718-178287719	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7557431	chr2:178287945-178287946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539295060	chr2:178287985-178287986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554244769	chr2:178288034-178288035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145368238	chr2:178288058-178288059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558288495	chr2:178288059-178288060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386508390	chr2:178288061-178288062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549784854	chr2:178288125-178288126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147607241	chr2:178288131-178288132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191476189	chr2:178288200-178288201	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535445169	chr2:178288251-178288252	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575666372	chr2:178288355-178288356	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555751546	chr2:178288369-178288370	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182451366	chr2:178288370-178288371	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535114733	chr2:178288407-178288408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142145363	chr2:178288473-178288474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543029785	chr2:178288525-178288526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186573609	chr2:178288603-178288604	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544029397	chr2:178288604-178288605	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	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
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178258800-178294200	Weak transcription	Thymus	Thymus
2	chr2:178263400-178291800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:178264200-178291600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:178270400-178294400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:178271800-178291600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:178272800-178295200	Weak transcription	Left Ventricle	heart
7	chr2:178273000-178288800	Weak transcription	GM12878-XiMat	blood
8	chr2:178273400-178288600	Weak transcription	Primary T cells from cord blood	blood
9	chr2:178274600-178291800	Weak transcription	Primary B cells from cord blood	blood
10	chr2:178276400-178291400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:178276800-178289800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:178276800-178294400	Weak transcription	Psoas Muscle	Psoas
13	chr2:178277400-178291800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:178279600-178294400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:178280200-178291600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:178280400-178296000	Weak transcription	Small Intestine	intestine
17	chr2:178280800-178294400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:178281200-178289400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:178281200-178291600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:178281200-178292200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:178281800-178291800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:178283000-178294600	Weak transcription	Fetal Kidney	kidney
23	chr2:178283800-178294200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:178283800-178295200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:178284000-178294200	Weak transcription	NHLF	lung
26	chr2:178284200-178291600	Weak transcription	Fetal Lung	lung
27	chr2:178284400-178289400	Weak transcription	Adipose Nuclei	Adipose
28	chr2:178284400-178291800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:178284400-178292000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:178284400-178292000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:178284400-178294000	Weak transcription	Fetal Thymus	thymus
32	chr2:178284600-178294000	Weak transcription	HSMM	muscle
33	chr2:178284600-178294400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:178284600-178295800	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:178284800-178291000	Weak transcription	Brain Angular Gyrus	brain
36	chr2:178284800-178294200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:178284800-178294400	Weak transcription	Liver	Liver
38	chr2:178285000-178287600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:178285000-178289800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:178285000-178291600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:178285000-178294000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:178285400-178287600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:178285400-178289000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr2:178285400-178289000	Strong transcription	Dnd41	blood
45	chr2:178285600-178288600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:178285600-178289600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:178285600-178294200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:178285800-178291600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:178285800-178294200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:178285800-178294400	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links