Variant report

Variant	esv3380004
Chromosome Location	chr2:47656085-47656512
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	chr2:47579530..47581405-chr2:47655921..47657522,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13405895	chr2:47656104-47656105	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17217933	chr2:47656106-47656107	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77199657	chr2:47656153-47656154	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17217940	chr2:47656154-47656155	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111506134	chr2:47656158-47656159	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558220632	chr2:47656165-47656166	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539458068	chr2:47656229-47656230	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187540788	chr2:47656231-47656232	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534595846	chr2:47656232-47656233	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551215473	chr2:47656248-47656249	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377758118	chr2:47656253-47656254	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574271220	chr2:47656254-47656255	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374530929	chr2:47656279-47656280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191961805	chr2:47656291-47656292	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566451520	chr2:47656292-47656293	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575608558	chr2:47656294-47656295	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561253756	chr2:47656318-47656319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546279423	chr2:47656333-47656334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564318585	chr2:47656362-47656363	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72884686	chr2:47656366-47656367	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547295967	chr2:47656367-47656368	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114890267	chr2:47656384-47656385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72884688	chr2:47656398-47656399	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550856864	chr2:47656405-47656406	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533701863	chr2:47656428-47656429	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569439180	chr2:47656437-47656438	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184977954	chr2:47656438-47656439	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11888687	chr2:47656463-47656464	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34450264	chr2:47656465-47656466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397984496	chr2:47656481-47656482	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559672578	chr2:47656490-47656491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17217947	chr2:47656507-47656508	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Colorectal cancer	17569143	CNVD
Hereditary non-polyposis colorectal cancer	16941473	CNVD
Lynch syndrome	16541406	CNVD
Non-syndromic sensorineural hearing loss	19173287	CNVD
Hereditary non-polyposis colorectal cancer	17228328	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Lynch syndrome	20937110	CNVD
Breast cancer	20616022	CNVD
Colorectal cancer	18708397	CNVD
Endometrial cancer	18708397	CNVD
Lynch syndrome	18708397	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Cancer	17440070	CNVD
Hereditary non-polyposis colorectal cancer	21518781	CNVD
Colorectal cancer	21518781	CNVD
Central neurocytomas	17123091	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47657400	Weak transcription	HSMMtube	muscle
2	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
4	chr2:47631600-47657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:47631800-47657000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:47631800-47657400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:47631800-47657400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:47631800-47657400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:47631800-47657400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:47631800-47657400	Weak transcription	Small Intestine	intestine
11	chr2:47631800-47657600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:47631800-47659400	Weak transcription	Right Atrium	heart
13	chr2:47631800-47672000	Weak transcription	Pancreas	Pancrea
14	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
15	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
16	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
17	chr2:47632600-47659600	Strong transcription	Fetal Thymus	thymus
18	chr2:47632800-47659600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:47633000-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:47633000-47659600	Strong transcription	Fetal Stomach	stomach
21	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:47634600-47657600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:47634600-47657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:47634600-47657800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:47634800-47657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:47634800-47658800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:47634800-47659600	Strong transcription	Dnd41	blood
28	chr2:47635000-47657600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr2:47635000-47657600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:47635600-47657800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:47636800-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:47637200-47657600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:47637600-47658000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:47637800-47657600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:47639200-47657200	Weak transcription	Gastric	stomach
36	chr2:47639600-47657600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:47641400-47657000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:47642200-47657400	Weak transcription	Brain Substantia Nigra	brain
39	chr2:47642400-47657000	Weak transcription	Adipose Nuclei	Adipose
40	chr2:47642400-47657200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:47643200-47657400	Weak transcription	Aorta	Aorta
42	chr2:47643400-47657400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:47643600-47657200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:47643600-47657400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:47644000-47657400	Weak transcription	Fetal Heart	heart
47	chr2:47644200-47656600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:47644600-47657400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:47644800-47657000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:47644800-47657200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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