Variant report

Variant	nsv526268
Chromosome Location	chr11:77688774-77698524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:77684778..77687771-chr11:77687903..77690145,2	K562	blood:
2	chr11:77683720..77686593-chr11:77691250..77693756,3	K562	blood:
3	chr11:77692487..77694366-chr11:77703526..77705740,2	K562	blood:
4	chr11:77696939..77698512-chr11:77704075..77707018,2	MCF-7	breast:
5	chr11:77696988..77700525-chr11:77704022..77706318,4	K562	blood:
6	chr11:77694947..77697759-chr11:77703796..77706385,2	MCF-7	breast:
7	chr11:77696526..77698662-chr11:77704818..77706643,2	K562	blood:
8	chr11:77691216..77693251-chr11:77709176..77711368,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149262	chromatin interactions

Extended variants
information (count: 367 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10899420	chr11:77688774-77688775	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183193121	chr11:77688790-77688791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559809095	chr11:77688813-77688814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528621766	chr11:77688852-77688853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533486197	chr11:77688923-77688924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568270926	chr11:77688934-77688935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72941339	chr11:77688940-77688941	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111798414	chr11:77688941-77688942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112970496	chr11:77688942-77688943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188789110	chr11:77688980-77688981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114039299	chr11:77689021-77689022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147131832	chr11:77689024-77689025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373888089	chr11:77689096-77689097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566754013	chr11:77689146-77689147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527870842	chr11:77689164-77689165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140426858	chr11:77689201-77689202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4391850	chr11:77689202-77689203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149680833	chr11:77689258-77689259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567051837	chr11:77689285-77689286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191485856	chr11:77689289-77689290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12289316	chr11:77689297-77689298	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs556018388	chr11:77689326-77689327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575327896	chr11:77689462-77689463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544200697	chr11:77689467-77689468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554906135	chr11:77689471-77689472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369679672	chr11:77689526-77689527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572134796	chr11:77689646-77689647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145571218	chr11:77689671-77689672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537854981	chr11:77689680-77689681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540514321	chr11:77689685-77689686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148886977	chr11:77689701-77689702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532314386	chr11:77689753-77689754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148185606	chr11:77689786-77689787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373169576	chr11:77689824-77689825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545134327	chr11:77689835-77689836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565008150	chr11:77689838-77689839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571657473	chr11:77689847-77689848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142614492	chr11:77689854-77689855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151016764	chr11:77689879-77689880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567638854	chr11:77689890-77689891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530373000	chr11:77689904-77689905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547249965	chr11:77689915-77689916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566985865	chr11:77689933-77689934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558060199	chr11:77689948-77689949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573092467	chr11:77689955-77689956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558708178	chr11:77689978-77689979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374565629	chr11:77689994-77689995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368976777	chr11:77690006-77690007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112908953	chr11:77690011-77690012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371671621	chr11:77690017-77690018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77583400-77690000	Weak transcription	Colonic Mucosa	Colon
2	chr11:77592800-77690000	Weak transcription	Small Intestine	intestine
3	chr11:77597800-77690000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:77597800-77690000	Weak transcription	Esophagus	oesophagus
5	chr11:77597800-77690000	Weak transcription	Gastric	stomach
6	chr11:77602800-77690000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:77614800-77700200	Weak transcription	Psoas Muscle	Psoas
8	chr11:77625800-77697400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:77626000-77690000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:77626200-77689400	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:77626600-77689600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:77626600-77690000	Weak transcription	Pancreas	Pancrea
13	chr11:77645000-77690000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:77646200-77689600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:77648600-77690000	Weak transcription	Brain Germinal Matrix	brain
16	chr11:77649200-77701200	Weak transcription	NH-A	brain
17	chr11:77658600-77689200	Weak transcription	HUVEC	blood vessel
18	chr11:77661400-77704400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:77664200-77689400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:77664200-77704000	Weak transcription	NHEK	skin
21	chr11:77665800-77689400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:77665800-77704200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:77666000-77704400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:77667600-77704200	Weak transcription	NHLF	lung
25	chr11:77668400-77689600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:77668400-77701200	Weak transcription	Aorta	Aorta
27	chr11:77668600-77690000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:77668600-77690000	Weak transcription	Lung	lung
29	chr11:77670000-77690000	Weak transcription	Spleen	Spleen
30	chr11:77670200-77689800	Weak transcription	HMEC	breast
31	chr11:77671000-77689800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:77671200-77704200	Weak transcription	NHDF-Ad	bronchial
33	chr11:77671400-77688800	Weak transcription	Left Ventricle	heart
34	chr11:77671800-77689600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:77671800-77689800	Weak transcription	Brain Angular Gyrus	brain
36	chr11:77672000-77689400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:77672000-77689600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:77672000-77689600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:77672000-77689800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:77672000-77689800	Weak transcription	HepG2	liver
41	chr11:77672000-77690400	Weak transcription	Hela-S3	cervix
42	chr11:77672000-77701200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:77672000-77703800	Weak transcription	Fetal Brain Male	brain
44	chr11:77672200-77688800	Weak transcription	Liver	Liver
45	chr11:77672200-77689200	Weak transcription	Osteobl	bone
46	chr11:77672200-77689400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:77672200-77689400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:77672200-77689400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:77672200-77689600	Weak transcription	Brain Anterior Caudate	brain
50	chr11:77672200-77689800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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