Variant report

Variant	nsv828341
Chromosome Location	chr2:10712906-10713808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10703297..10704818-chr2:10710965..10713487,2	K562	blood:
2	chr2:10711662..10714609-chr2:10716774..10718684,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13011270	chr2:10712923-10712924	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534067329	chr2:10712943-10712944	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558711226	chr2:10712944-10712945	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541640083	chr2:10712963-10712964	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13011439	chr2:10712996-10712997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114951412	chr2:10713001-10713002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138447976	chr2:10713036-10713037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193300378	chr2:10713045-10713046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185568207	chr2:10713052-10713053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12992628	chr2:10713068-10713069	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7571206	chr2:10713100-10713101	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564739982	chr2:10713134-10713135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7571318	chr2:10713180-10713181	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113673930	chr2:10713189-10713190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369620835	chr2:10713203-10713204	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74939892	chr2:10713208-10713209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13011892	chr2:10713211-10713212	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528573110	chr2:10713228-10713229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73917017	chr2:10713251-10713252	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs58932234	chr2:10713271-10713272	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115739832	chr2:10713277-10713278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116499591	chr2:10713281-10713282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189318787	chr2:10713291-10713292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538194128	chr2:10713293-10713294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576017167	chr2:10713329-10713330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181658606	chr2:10713396-10713397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185992451	chr2:10713457-10713458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188793756	chr2:10713478-10713479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541898127	chr2:10713532-10713533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7607611	chr2:10713540-10713541	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572271754	chr2:10713541-10713542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546187214	chr2:10713566-10713567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564752890	chr2:10713574-10713575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181236009	chr2:10713578-10713579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544234794	chr2:10713601-10713602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7607627	chr2:10713602-10713603	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529845227	chr2:10713608-10713609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7598463	chr2:10713609-10713610	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7595614	chr2:10713645-10713646	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534410427	chr2:10713686-10713687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10177062	chr2:10713698-10713699	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552191708	chr2:10713729-10713730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570773124	chr2:10713744-10713745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148389465	chr2:10713752-10713753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61515414	chr2:10713755-10713756	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568085640	chr2:10713778-10713779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561312921	chr2:10713781-10713782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573646569	chr2:10713782-10713783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34621272	chr2:10713798-10713799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	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
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10699400-10716200	Weak transcription	Fetal Brain Male	brain
3	chr2:10702000-10715800	Weak transcription	Hela-S3	cervix
4	chr2:10702000-10717400	Weak transcription	Psoas Muscle	Psoas
5	chr2:10702200-10713800	Weak transcription	K562	blood
6	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:10706000-10713800	Weak transcription	HSMMtube	muscle
8	chr2:10706400-10713800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:10706400-10716000	Weak transcription	Fetal Kidney	kidney
10	chr2:10706400-10716600	Strong transcription	Fetal Intestine Small	intestine
11	chr2:10707400-10728800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:10708400-10713000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:10708600-10718600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:10708600-10718800	Strong transcription	Primary T cells from cord blood	blood
15	chr2:10708600-10719600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:10708600-10720000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:10708600-10727000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:10708800-10713000	Strong transcription	Aorta	Aorta
20	chr2:10708800-10713200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr2:10708800-10716000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:10708800-10718400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:10708800-10720600	Strong transcription	Fetal Intestine Large	intestine
24	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:10709000-10718200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:10709000-10718600	Strong transcription	Dnd41	blood
27	chr2:10709000-10719000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:10709000-10719000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:10709000-10719200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:10709000-10725800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:10709000-10726600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:10709200-10714000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:10709200-10715600	Strong transcription	HSMM	muscle
34	chr2:10709200-10718600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:10709200-10718600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr2:10709200-10719200	Strong transcription	Liver	Liver
37	chr2:10709200-10719800	Strong transcription	HepG2	liver
38	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:10709400-10713800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:10709400-10714200	Strong transcription	NHEK	skin
41	chr2:10709400-10716200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:10709400-10716600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
44	chr2:10709600-10713400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:10709600-10718800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr2:10709800-10713000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:10709800-10715800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:10709800-10719000	Strong transcription	Placenta	Placenta
49	chr2:10709800-10719600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:10710000-10716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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