Variant report

Variant	esv3391345
Chromosome Location	chr2:179365787-179368584
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:0)
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	chr2:179355494..179357209-chr2:179364839..179367204,2	MCF-7	breast:
2	chr2:179342810..179345540-chr2:179367269..179371367,3	MCF-7	breast:
3	chr2:179361307..179367061-chr2:179369825..179374602,5	K562	blood:
4	chr2:179363873..179366209-chr2:179372272..179375268,2	K562	blood:
5	chr2:179364022..179368835-chr2:179377215..179381031,4	K562	blood:
6	chr2:179368274..179373931-chr2:179383180..179392063,9	K562	blood:
7	chr2:179349410..179352916-chr2:179365424..179367731,3	K562	blood:
8	chr2:179365289..179368073-chr2:179371154..179373608,2	MCF-7	breast:
9	chr2:179363500..179366373-chr2:179369825..179372211,3	K562	blood:
10	chr2:179359085..179362406-chr2:179364736..179367288,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079150	chromatin interactions
ENSG00000116095	chromatin interactions
ENSG00000237298	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77221218	chr2:179365790-179365791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186460048	chr2:179365803-179365804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145944316	chr2:179365813-179365814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376059682	chr2:179365821-179365822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143295460	chr2:179365825-179365826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79402618	chr2:179365826-179365827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368349837	chr2:179365828-179365829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564804334	chr2:179365843-179365844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372347341	chr2:179365853-179365854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374034773	chr2:179365876-179365877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs367872846	chr2:179365883-179365884	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371409053	chr2:179365890-179365891	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368159563	chr2:179365928-179365929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374832248	chr2:179365935-179365936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544035692	chr2:179365967-179365968	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371928195	chr2:179366006-179366007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534474865	chr2:179366045-179366046	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531276098	chr2:179366051-179366052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189712139	chr2:179366083-179366084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2303537	chr2:179366093-179366094	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs567676689	chr2:179366129-179366130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369197281	chr2:179366137-179366138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77778904	chr2:179366142-179366143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547369718	chr2:179366170-179366171	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572252162	chr2:179366171-179366172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570761936	chr2:179366190-179366191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539239276	chr2:179366192-179366193	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79928100	chr2:179366194-179366195	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569889271	chr2:179366220-179366221	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372659527	chr2:179366346-179366347	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542761512	chr2:179366473-179366474	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74859264	chr2:179366516-179366517	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555910023	chr2:179366519-179366520	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs180831356	chr2:179366597-179366598	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78155940	chr2:179366598-179366599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558159055	chr2:179366604-179366605	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56367852	chr2:179366643-179366644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555996292	chr2:179366653-179366654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532037577	chr2:179366659-179366660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143975620	chr2:179366715-179366716	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529453468	chr2:179366794-179366795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199769671	chr2:179366821-179366822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74994721	chr2:179366957-179366958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146472277	chr2:179366958-179366959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552103326	chr2:179367057-179367058	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184912569	chr2:179367060-179367061	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561490291	chr2:179367077-179367078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs967507	chr2:179367086-179367087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116005433	chr2:179367091-179367092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376915092	chr2:179367315-179367316	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179346400-179387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:179347400-179369400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:179347600-179371000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:179350400-179371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:179350400-179371600	Strong transcription	Dnd41	blood
6	chr2:179350400-179372400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:179350400-179372400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:179350400-179384400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:179350600-179371200	Strong transcription	Duodenum Mucosa	Duodenum
10	chr2:179350600-179372200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:179350800-179370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:179350800-179371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:179350800-179372000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:179350800-179372000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:179351000-179368800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:179352800-179372200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:179353400-179369000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:179353600-179371600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:179353800-179368400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:179354000-179371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:179354400-179371400	Strong transcription	Placenta	Placenta
22	chr2:179354400-179371600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:179354400-179372000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:179354600-179370000	Strong transcription	Liver	Liver
25	chr2:179354600-179373000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:179354600-179373000	Strong transcription	HSMM	muscle
27	chr2:179355000-179368000	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:179355200-179369000	Strong transcription	Fetal Intestine Large	intestine
29	chr2:179356000-179367200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:179356000-179368400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:179356000-179368400	Strong transcription	Primary B cells from cord blood	blood
32	chr2:179357600-179368600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr2:179358200-179367800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:179358200-179367800	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr2:179358200-179369600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:179358200-179369800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr2:179358200-179372800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:179358600-179366200	Strong transcription	Ovary	ovary
39	chr2:179358600-179368600	Strong transcription	A549	lung
40	chr2:179358600-179370000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:179358600-179370000	Strong transcription	Adipose Nuclei	Adipose
42	chr2:179358600-179370600	Strong transcription	Fetal Thymus	thymus
43	chr2:179359400-179366000	Weak transcription	Stomach Mucosa	stomach
44	chr2:179359400-179371000	Weak transcription	Colonic Mucosa	Colon
45	chr2:179359400-179382800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:179359600-179367400	Weak transcription	Psoas Muscle	Psoas
47	chr2:179359600-179371400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:179359600-179387600	Weak transcription	Right Ventricle	heart
49	chr2:179359600-179387800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:179360600-179382400	Weak transcription	Gastric	stomach

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