Variant report

Variant	nsv821842
Chromosome Location	chr2:184030701-184037931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184022891..184025672-chr2:184035459..184037994,2	K562	blood:
2	chr2:183987752..183989755-chr2:184035957..184037928,2	MCF-7	breast:
3	chr12:103034147..103036030-chr2:184031138..184032660,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163002	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77451581	chr2:184030730-184030731	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs35960548	chr2:184030735-184030736	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs4474850	chr2:184030764-184030765	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564571839	chr2:184030844-184030845	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs536013234	chr2:184030855-184030856	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs137871567	chr2:184030866-184030867	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143547865	chr2:184030891-184030892	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536056394	chr2:184030893-184030894	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2368376	chr2:184030905-184030906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs566399512	chr2:184030923-184030924	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535369943	chr2:184030932-184030933	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558475996	chr2:184030939-184030940	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs184803851	chr2:184030952-184030953	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545609223	chr2:184030996-184030997	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536996088	chr2:184031009-184031010	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs188118694	chr2:184031022-184031023	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs192944497	chr2:184031023-184031024	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs542828023	chr2:184031038-184031039	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184432719	chr2:184031058-184031059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572685318	chr2:184031078-184031079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs35453132	chr2:184031082-184031083	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4372840	chr2:184031083-184031084	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530531708	chr2:184031141-184031142	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189093514	chr2:184031159-184031160	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs147173938	chr2:184031209-184031210	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116102734	chr2:184031210-184031211	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546697649	chr2:184031244-184031245	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566313669	chr2:184031245-184031246	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537209810	chr2:184031254-184031255	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557116182	chr2:184031354-184031355	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs181804702	chr2:184031416-184031417	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs139510763	chr2:184031451-184031452	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs185085574	chr2:184031466-184031467	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557043484	chr2:184031472-184031473	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs567628328	chr2:184031474-184031475	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577042392	chr2:184031516-184031517	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545899308	chr2:184031562-184031563	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149309904	chr2:184031572-184031573	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571714918	chr2:184031579-184031580	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553039519	chr2:184031593-184031594	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377131327	chr2:184031622-184031623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572748496	chr2:184031691-184031692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544757990	chr2:184031723-184031724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374365511	chr2:184031728-184031729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141760549	chr2:184031751-184031752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201185565	chr2:184031752-184031753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112886310	chr2:184031753-184031754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58814759	chr2:184031754-184031755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113151619	chr2:184031755-184031756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575415519	chr2:184031786-184031787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
2	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
8	chr2:183991400-184034000	Weak transcription	NHLF	lung
9	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
10	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
11	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:184009200-184034000	Weak transcription	Esophagus	oesophagus
13	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
14	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:184014200-184031400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:184014600-184030800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
19	chr2:184016200-184030800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:184018400-184047400	Weak transcription	Pancreas	Pancrea
21	chr2:184019000-184031200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:184019000-184036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:184019000-184043600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:184019000-184050000	Weak transcription	Gastric	stomach
25	chr2:184019000-184053400	Weak transcription	Placenta	Placenta
26	chr2:184019400-184030800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:184022000-184031200	Strong transcription	Dnd41	blood
28	chr2:184022400-184030800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:184023000-184031400	Strong transcription	Fetal Thymus	thymus
30	chr2:184023000-184033000	Strong transcription	Primary T cells from cord blood	blood
31	chr2:184023400-184034200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:184024200-184031200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:184024200-184031400	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr2:184025000-184031200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:184025000-184031400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:184025000-184031400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:184025200-184031200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:184025200-184031200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:184025200-184031400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:184025400-184030800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:184025600-184031800	Strong transcription	A549	lung
42	chr2:184026000-184054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:184026000-184057600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:184026600-184043200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:184026600-184058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:184026800-184031000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:184026800-184047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:184027400-184035800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:184027600-184057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:184028400-184031000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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