Variant report

Variant	nsv961795
Chromosome Location	chr2:73830604-73834098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141980244	chr2:73830612-73830613	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528329614	chr2:73830633-73830634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546709755	chr2:73830652-73830653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561814623	chr2:73830654-73830655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528846970	chr2:73830667-73830668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550558551	chr2:73830679-73830680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112886759	chr2:73830686-73830687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569415271	chr2:73830722-73830723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540147049	chr2:73830733-73830734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116389711	chr2:73830753-73830754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566963146	chr2:73830803-73830804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11694246	chr2:73830807-73830808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150515127	chr2:73830809-73830810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528753163	chr2:73830891-73830892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534161108	chr2:73830892-73830893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555436045	chr2:73830894-73830895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573807864	chr2:73830910-73830911	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537818420	chr2:73830942-73830943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556545755	chr2:73830966-73830967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138634444	chr2:73830974-73830975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113159381	chr2:73830986-73830987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564413884	chr2:73830995-73830996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77509957	chr2:73830996-73830997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540432563	chr2:73831031-73831032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6546849	chr2:73831037-73831038	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs142769695	chr2:73831059-73831060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6546850	chr2:73831147-73831148	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs147376131	chr2:73831151-73831152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369585559	chr2:73831172-73831173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190087373	chr2:73831178-73831179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536503111	chr2:73831288-73831289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369658981	chr2:73831292-73831293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373101779	chr2:73831336-73831337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552039052	chr2:73831344-73831345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4852936	chr2:73831358-73831359	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182281459	chr2:73831409-73831410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549183417	chr2:73831415-73831416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567396426	chr2:73831446-73831447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116196426	chr2:73831464-73831465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556417420	chr2:73831489-73831490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1455	chr2:73831494-73831495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139712529	chr2:73831509-73831510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1459	chr2:73831514-73831515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538705818	chr2:73831548-73831549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145238313	chr2:73831569-73831570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1463	chr2:73831573-73831574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186598472	chr2:73831585-73831586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536752827	chr2:73831586-73831587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10174770	chr2:73831618-73831619	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs370396405	chr2:73831622-73831623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
2	chr2:73785400-73838200	Weak transcription	Psoas Muscle	Psoas
3	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
4	chr2:73815600-73836000	Weak transcription	A549	lung
5	chr2:73822000-73838800	Weak transcription	Fetal Heart	heart
6	chr2:73822600-73833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:73822600-73840800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:73823000-73844600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:73825400-73833600	Weak transcription	Esophagus	oesophagus
10	chr2:73826000-73832200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:73826000-73841200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:73826200-73833200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:73826200-73841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:73826600-73839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:73826800-73832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:73826800-73838800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:73827000-73840600	Weak transcription	NHLF	lung
18	chr2:73827200-73831200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:73827200-73831600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:73827200-73837200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:73827400-73836400	Strong transcription	Primary T cells from cord blood	blood
22	chr2:73827600-73831800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:73827600-73832400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:73827600-73837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:73827600-73838200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:73827600-73839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:73827800-73830800	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:73827800-73831000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:73827800-73831000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:73827800-73831000	Strong transcription	Brain Cingulate Gyrus	brain
31	chr2:73827800-73831000	Strong transcription	Brain Hippocampus Middle	brain
32	chr2:73827800-73831000	Strong transcription	Fetal Stomach	stomach
33	chr2:73827800-73832200	Strong transcription	Fetal Intestine Large	intestine
34	chr2:73827800-73832200	Strong transcription	Left Ventricle	heart
35	chr2:73827800-73832200	Strong transcription	Dnd41	blood
36	chr2:73827800-73840400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:73828000-73830800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:73828000-73830800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:73828000-73830800	Strong transcription	Thymus	Thymus
40	chr2:73828000-73831000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:73828000-73831000	Strong transcription	Ovary	ovary
42	chr2:73828000-73832400	Strong transcription	Adipose Nuclei	Adipose
43	chr2:73828200-73830800	Strong transcription	HepG2	liver
44	chr2:73828200-73831000	Strong transcription	Brain Substantia Nigra	brain
45	chr2:73828200-73831000	Strong transcription	Fetal Intestine Small	intestine
46	chr2:73828200-73831200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:73828400-73831000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr2:73828400-73831200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:73828400-73832200	Strong transcription	Fetal Lung	lung
50	chr2:73828400-73832400	Weak transcription	Small Intestine	intestine

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