Variant report

Variant	nsv526140
Chromosome Location	chr2:171729643-171732497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171729910..171732029-chr2:171733045..171735260,2	MCF-7	breast:
2	chr2:171727055..171729021-chr2:171729761..171731412,2	K562	blood:
3	chr2:171723075..171726010-chr2:171732396..171733970,2	K562	blood:
4	chr2:171701425..171702174-chr2:171729449..171729961,2	K562	blood:
5	chr2:171226307..171227085-chr2:171729418..171730140,3	MCF-7	breast:
6	chr2:171092223..171093153-chr2:171729363..171730378,4	K562	blood:
7	chr2:171721677..171726010-chr2:171731476..171734906,5	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7558948	chr2:171729643-171729644	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533138678	chr2:171729739-171729740	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536342352	chr2:171729747-171729748	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142525372	chr2:171729900-171729901	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs74645484	chr2:171729907-171729908	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189709311	chr2:171729919-171729920	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572883352	chr2:171729994-171729995	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558957438	chr2:171730038-171730039	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7561872	chr2:171730049-171730050	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544637508	chr2:171730076-171730077	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36025924	chr2:171730143-171730144	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563270787	chr2:171730161-171730162	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575441409	chr2:171730237-171730238	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs554460134	chr2:171730264-171730265	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs76440657	chr2:171730309-171730310	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs561084582	chr2:171730355-171730356	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs367561662	chr2:171730396-171730397	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs574619044	chr2:171730459-171730460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566946380	chr2:171730589-171730590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4668336	chr2:171730590-171730591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138730000	chr2:171730620-171730621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564994757	chr2:171730646-171730647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372405563	chr2:171730647-171730648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532425652	chr2:171730658-171730659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184124942	chr2:171730692-171730693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568886630	chr2:171730703-171730704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141851984	chr2:171730775-171730776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576914967	chr2:171730776-171730777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566745339	chr2:171730785-171730786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111317512	chr2:171730791-171730792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534084443	chr2:171730803-171730804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559211317	chr2:171730807-171730808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577513919	chr2:171730826-171730827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538510570	chr2:171730843-171730844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557030335	chr2:171730873-171730874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376759920	chr2:171730898-171730899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368295948	chr2:171730918-171730919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386391811	chr2:171730919-171730920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78133376	chr2:171730920-171730921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386391812	chr2:171730934-171730935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58479872	chr2:171730936-171730937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71399571	chr2:171730943-171730944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7349401	chr2:171730949-171730950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188687330	chr2:171730967-171730968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573005642	chr2:171730983-171730984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559424056	chr2:171731003-171731004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146195464	chr2:171731025-171731026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7598959	chr2:171731026-171731027	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs548179270	chr2:171731033-171731034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562370463	chr2:171731043-171731044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171699000-171730000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:171729000-171730200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:171729200-171729800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:171729200-171729800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:171729200-171730000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:171729200-171730200	Enhancers	HUVEC	blood vessel
7	chr2:171729200-171730600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:171729400-171729800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:171729400-171729800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:171729400-171729800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:171729400-171729800	Enhancers	Brain Substantia Nigra	brain
12	chr2:171729400-171729800	Enhancers	HSMMtube	muscle
13	chr2:171729400-171730000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:171729400-171730000	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:171729400-171730200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:171729400-171730200	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:171729400-171730200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:171729400-171730200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:171729400-171730200	Enhancers	Fetal Heart	heart
20	chr2:171729400-171730200	Flanking Active TSS	Dnd41	blood
21	chr2:171729400-171730400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:171729400-171730400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:171729600-171729800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:171729600-171729800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr2:171729600-171729800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:171729600-171729800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:171729600-171729800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:171729600-171729800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr2:171729600-171729800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:171729600-171729800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:171729600-171729800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:171729600-171729800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr2:171729600-171729800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr2:171729600-171729800	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr2:171729600-171729800	Active TSS	Fetal Muscle Trunk	muscle
36	chr2:171729600-171729800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr2:171729600-171729800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:171729600-171729800	Flanking Active TSS	A549	lung
39	chr2:171729600-171729800	Enhancers	HMEC	breast
40	chr2:171729600-171729800	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr2:171729600-171729800	Active TSS	NH-A	brain
42	chr2:171729600-171729800	Flanking Active TSS	NHEK	skin
43	chr2:171729600-171729800	Flanking Active TSS	Osteobl	bone
44	chr2:171729600-171730000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:171729600-171730000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:171729600-171730000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:171729600-171730000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:171729600-171730000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:171729600-171730000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:171729600-171730000	Flanking Active TSS	Primary T cells from cord blood	blood

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