Variant report

Variant	nsv522519
Chromosome Location	chr2:172586567-172600310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172585756..172589058-chr2:172589522..172592081,3	MCF-7	breast:
2	chr2:172599628..172601946-chr2:172603604..172606469,3	K562	blood:
3	chr2:172585739..172588158-chr2:172595691..172597501,2	K562	blood:
4	chr2:172578420..172580000-chr2:172586848..172589301,2	MCF-7	breast:
5	chr2:172581696..172584038-chr2:172591425..172594359,2	MCF-7	breast:
6	chr2:172585756..172589058-chr2:172589522..172592081,3	MCF-7	breast:
7	chr2:172585739..172588158-chr2:172595691..172597501,2	K562	blood:

Variant related genes	Relation type
ENSG00000077380	chromatin interactions

Extended variants
information (count: 459 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2292814	chr2:172586567-172586568	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149204702	chr2:172586580-172586581	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557368644	chr2:172586581-172586582	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190667828	chr2:172586620-172586621	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115131855	chr2:172586642-172586643	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2292815	chr2:172586651-172586652	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs2292816	chr2:172586714-172586715	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs182906220	chr2:172586715-172586716	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559352934	chr2:172586803-172586804	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs207462651	chr2:172586817-172586818	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533270733	chr2:172586855-172586856	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563560930	chr2:172586917-172586918	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34035165	chr2:172586991-172586992	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57486109	chr2:172587035-172587036	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146675005	chr2:172587052-172587053	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530758844	chr2:172587058-172587059	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548873827	chr2:172587124-172587125	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112037090	chr2:172587144-172587145	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552538538	chr2:172587206-172587207	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139361286	chr2:172587272-172587273	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546590834	chr2:172587284-172587285	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186757652	chr2:172587321-172587322	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76462832	chr2:172587324-172587325	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557670697	chr2:172587370-172587371	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569427940	chr2:172587417-172587418	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191671436	chr2:172587425-172587426	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114463602	chr2:172587439-172587440	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141818170	chr2:172587500-172587501	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571621772	chr2:172587545-172587546	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74787857	chr2:172587600-172587601	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541082124	chr2:172587645-172587646	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78149014	chr2:172587729-172587730	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553375203	chr2:172587754-172587755	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527722159	chr2:172587777-172587778	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577598674	chr2:172587778-172587779	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34255475	chr2:172587825-172587826	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113809124	chr2:172587835-172587836	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148093917	chr2:172587861-172587862	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530679186	chr2:172587874-172587875	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35162284	chr2:172587910-172587911	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs55957712	chr2:172587956-172587957	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374174941	chr2:172587979-172587980	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543586135	chr2:172587986-172587987	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546729415	chr2:172588012-172588013	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs571393818	chr2:172588028-172588029	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555578576	chr2:172588060-172588061	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs184134073	chr2:172588071-172588072	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536430029	chr2:172588084-172588085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs187233259	chr2:172588092-172588093	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs7604918	chr2:172588094-172588095	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:46)

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
Cancer	20164919	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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172545400-172588000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:172545800-172588000	Weak transcription	Right Ventricle	heart
4	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
5	chr2:172552200-172587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:172554400-172588000	Weak transcription	Esophagus	oesophagus
7	chr2:172559600-172605200	Weak transcription	Colonic Mucosa	Colon
8	chr2:172561200-172587800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:172561400-172601800	Weak transcription	Fetal Heart	heart
10	chr2:172564200-172610000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:172569000-172618600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:172569800-172611400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:172571400-172597800	Strong transcription	HSMM	muscle
14	chr2:172571800-172594200	Strong transcription	HUVEC	blood vessel
15	chr2:172572000-172595400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:172574800-172587800	Weak transcription	Lung	lung
17	chr2:172575400-172595600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:172579800-172589200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:172579800-172595600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:172579800-172611200	Strong transcription	Adipose Nuclei	Adipose
21	chr2:172580000-172598000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr2:172580200-172588200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr2:172580200-172589600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:172580200-172590000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:172580200-172595400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:172580200-172595400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr2:172580200-172595600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:172580200-172596000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr2:172580200-172611200	Strong transcription	Placenta	Placenta
30	chr2:172580400-172589600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:172580400-172595400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:172580400-172595600	Strong transcription	Primary T cells from cord blood	blood
33	chr2:172580400-172610600	Strong transcription	Fetal Thymus	thymus
34	chr2:172580400-172611400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:172580400-172611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:172580600-172595400	Strong transcription	Primary B cells from cord blood	blood
37	chr2:172580800-172587800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:172580800-172595600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:172581000-172595000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:172581000-172595400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:172581200-172587600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:172581200-172587600	Weak transcription	Fetal Stomach	stomach
43	chr2:172581200-172587800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:172581200-172587800	Weak transcription	Gastric	stomach
45	chr2:172581200-172587800	Weak transcription	Spleen	Spleen
46	chr2:172581200-172588000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:172581200-172588000	Weak transcription	Aorta	Aorta
48	chr2:172581200-172588000	Weak transcription	Fetal Intestine Small	intestine
49	chr2:172581200-172588000	Weak transcription	Pancreas	Pancrea
50	chr2:172581200-172589800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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