Variant report

Variant	nsv526590
Chromosome Location	chr2:7166507-7167589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:7137807..7140160-chr2:7167317..7168870,2	K562	blood:
2	chr2:7158554..7160902-chr2:7167034..7169770,2	MCF-7	breast:
3	chr2:7162976..7165040-chr2:7166130..7169066,2	MCF-7	breast:
4	chr2:7158155..7161194-chr2:7163664..7167209,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377617	chr2:7166507-7166508	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141886325	chr2:7166513-7166514	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150626466	chr2:7166574-7166575	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191795415	chr2:7166604-7166605	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541772948	chr2:7166631-7166632	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs5829094	chr2:7166632-7166633	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397741529	chr2:7166645-7166646	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs435009	chr2:7166662-7166663	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140668540	chr2:7166691-7166692	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3771955	chr2:7166697-7166698	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541854152	chr2:7166754-7166755	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549471933	chr2:7166757-7166758	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569301136	chr2:7166776-7166777	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538227894	chr2:7166777-7166778	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557332629	chr2:7166807-7166808	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570721866	chr2:7166835-7166836	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183570463	chr2:7166904-7166905	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112064720	chr2:7166911-7166912	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368116354	chr2:7166917-7166918	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs434607	chr2:7166951-7166952	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144529502	chr2:7166966-7166967	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3771953	chr2:7166985-7166986	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188756204	chr2:7166991-7166992	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574936341	chr2:7167041-7167042	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543805445	chr2:7167053-7167054	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34537073	chr2:7167134-7167135	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs416416	chr2:7167153-7167154	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs578204283	chr2:7167154-7167155	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375798905	chr2:7167172-7167173	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192589545	chr2:7167173-7167174	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529487061	chr2:7167201-7167202	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs182720732	chr2:7167221-7167222	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs147422647	chr2:7167250-7167251	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs429349	chr2:7167288-7167289	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs556116879	chr2:7167310-7167311	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs410210	chr2:7167313-7167314	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529211349	chr2:7167340-7167341	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139689965	chr2:7167361-7167362	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539734836	chr2:7167379-7167380	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548987017	chr2:7167396-7167397	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149938835	chr2:7167406-7167407	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566696157	chr2:7167421-7167422	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs78144620	chr2:7167470-7167471	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs186623928	chr2:7167504-7167505	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs555092303	chr2:7167557-7167558	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs365483	chr2:7167563-7167564	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191608615	chr2:7167565-7167566	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2280338	chr2:7167589-7167590	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Neuroblastoma	18923524	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:7148200-7172600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:7148800-7171400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:7151200-7185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:7152600-7192400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:7154000-7183200	Strong transcription	Primary T cells from cord blood	blood
7	chr2:7154000-7190200	Strong transcription	Dnd41	blood
8	chr2:7154600-7174800	Weak transcription	Primary B cells from cord blood	blood
9	chr2:7154600-7184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:7155000-7171400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:7155200-7182000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:7155600-7178800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:7156000-7168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:7157000-7177600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:7157000-7179200	Weak transcription	Aorta	Aorta
16	chr2:7157200-7169000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:7157200-7185200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:7158000-7168400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:7158200-7173200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:7158200-7188800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:7158400-7173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:7158400-7186800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:7158600-7167000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:7158600-7173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:7159000-7181000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:7159400-7186800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:7159600-7180600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:7160800-7169200	Weak transcription	Placenta	Placenta
29	chr2:7161800-7166800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:7162000-7168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:7162000-7171600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:7162400-7169800	Weak transcription	Esophagus	oesophagus
33	chr2:7162800-7167400	Genic enhancers	Left Ventricle	heart
34	chr2:7162800-7171400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:7163000-7167200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:7163000-7171000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:7163000-7171400	Weak transcription	Stomach Mucosa	stomach
38	chr2:7163200-7177400	Weak transcription	Fetal Brain Male	brain
39	chr2:7164000-7166600	Strong transcription	Fetal Brain Female	brain
40	chr2:7164000-7166800	Weak transcription	Psoas Muscle	Psoas
41	chr2:7164000-7167200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr2:7164000-7171200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:7164000-7171600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:7164000-7177600	Weak transcription	NHDF-Ad	bronchial
45	chr2:7164000-7178000	Weak transcription	K562	blood
46	chr2:7164200-7168800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:7164400-7166600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:7164400-7167000	Strong transcription	Brain Cingulate Gyrus	brain
49	chr2:7164400-7167200	Strong transcription	HepG2	liver
50	chr2:7164600-7166800	Weak transcription	Brain Angular Gyrus	brain

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