Variant report

Variant	nsv522823
Chromosome Location	chr11:86317519-86321576
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86319134..86320072-chr11:86529181..86530084,3	MCF-7	breast:
2	chr11:86166796..86167792-chr11:86318880..86319916,3	MCF-7	breast:
3	chr11:86232940..86235698-chr11:86318097..86321251,3	MCF-7	breast:
4	chr11:86315634..86317627-chr11:86511159..86513045,2	MCF-7	breast:
5	chr11:86167350..86168564-chr11:86319162..86319856,3	K562	blood:
6	chr11:86198460..86199030-chr11:86318943..86319871,2	MCF-7	breast:
7	chr11:86318542..86319850-chr11:86528941..86530646,11	MCF-7	breast:
8	chr11:86319394..86320101-chr11:86373202..86373790,2	K562	blood:
9	chr11:86316496..86321662-chr11:86508610..86513631,11	MCF-7	breast:
10	chr11:86166895..86167729-chr11:86320988..86321978,2	MCF-7	breast:
11	chr11:86317084..86318773-chr11:86517876..86519532,2	MCF-7	breast:
12	chr11:86318927..86319769-chr11:86513386..86514103,3	MCF-7	breast:
13	chr11:86302794..86305608-chr11:86317191..86320162,2	K562	blood:
14	chr11:86319149..86319859-chr11:86528932..86529935,3	K562	blood:
15	chr11:86316921..86319182-chr11:86528850..86531026,2	MCF-7	breast:
16	chr11:86318979..86319867-chr11:86460274..86461251,4	MCF-7	breast:
17	chr11:86319092..86320819-chr11:86342612..86344114,2	MCF-7	breast:
18	chr11:86319147..86319873-chr11:86387109..86388108,3	MCF-7	breast:
19	chr11:86165943..86168698-chr11:86319331..86321067,2	MCF-7	breast:
20	chr11:86288660..86290609-chr11:86318150..86319919,2	K562	blood:
21	chr11:86318121..86320638-chr11:86509827..86512612,4	MCF-7	breast:
22	chr11:86166955..86167789-chr11:86318883..86320001,8	MCF-7	breast:
23	chr11:86319075..86319750-chr11:86510265..86511089,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150687	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7940772	chr11:86317519-86317520	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7940781	chr11:86317530-86317531	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563281881	chr11:86317535-86317536	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7940788	chr11:86317541-86317542	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528325819	chr11:86317549-86317550	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559685912	chr11:86317641-86317642	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141870509	chr11:86317655-86317656	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7940587	chr11:86317660-86317661	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs7940590	chr11:86317666-86317667	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146171486	chr11:86317696-86317697	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551187527	chr11:86317703-86317704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571210056	chr11:86317709-86317710	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113969591	chr11:86317718-86317719	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs685439	chr11:86317725-86317726	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558281946	chr11:86317729-86317730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs80178193	chr11:86317733-86317734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534422165	chr11:86317748-86317749	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1938938	chr11:86317750-86317751	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574183108	chr11:86317784-86317785	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543258668	chr11:86317797-86317798	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556714820	chr11:86317810-86317811	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540514446	chr11:86317830-86317831	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576763528	chr11:86317861-86317862	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7941051	chr11:86317874-86317875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565071907	chr11:86317890-86317891	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112606847	chr11:86317979-86317980	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559513041	chr11:86318031-86318032	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374362102	chr11:86318039-86318040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528440241	chr11:86318070-86318071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541971090	chr11:86318078-86318079	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562207599	chr11:86318099-86318100	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544173625	chr11:86318122-86318123	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10792865	chr11:86318218-86318219	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs60777296	chr11:86318242-86318243	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150516499	chr11:86318265-86318266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77351903	chr11:86318270-86318271	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559745673	chr11:86318283-86318284	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527369942	chr11:86318335-86318336	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547223105	chr11:86318336-86318337	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs137886558	chr11:86318353-86318354	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117133531	chr11:86318359-86318360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554140879	chr11:86318428-86318429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11602628	chr11:86318434-86318435	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12792567	chr11:86318437-86318438	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567842127	chr11:86318463-86318464	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368182045	chr11:86318494-86318495	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146485846	chr11:86318495-86318496	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200456030	chr11:86318497-86318498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577494057	chr11:86318498-86318499	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556754104	chr11:86318502-86318503	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86300200-86318800	Weak transcription	Esophagus	oesophagus
2	chr11:86307000-86317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:86308800-86321600	Weak transcription	Left Ventricle	heart
4	chr11:86309400-86321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:86315600-86318800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:86315600-86319000	Weak transcription	Fetal Intestine Large	intestine
7	chr11:86316200-86320200	Enhancers	HUVEC	blood vessel
8	chr11:86316400-86317800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:86316400-86320400	Enhancers	Fetal Stomach	stomach
10	chr11:86316800-86319600	Enhancers	Fetal Brain Male	brain
11	chr11:86317000-86318400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:86317000-86318400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:86317000-86319000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:86317000-86319000	Enhancers	Right Ventricle	heart
15	chr11:86317000-86319200	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:86317000-86319200	Enhancers	A549	lung
17	chr11:86317000-86319600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:86317000-86319600	Enhancers	Ovary	ovary
19	chr11:86317000-86319800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:86317000-86320200	Enhancers	Fetal Heart	heart
21	chr11:86317200-86318400	Enhancers	Fetal Brain Female	brain
22	chr11:86317200-86319000	Enhancers	Colon Smooth Muscle	Colon
23	chr11:86317200-86319200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:86317200-86319200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:86317200-86319800	Enhancers	Fetal Muscle Leg	muscle
26	chr11:86317200-86320400	Enhancers	Rectal Smooth Muscle	rectum
27	chr11:86317200-86320400	Enhancers	Hela-S3	cervix
28	chr11:86317400-86317600	Enhancers	Brain Angular Gyrus	brain
29	chr11:86317400-86317600	Enhancers	Right Atrium	heart
30	chr11:86317400-86317800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:86317400-86317800	Enhancers	Psoas Muscle	Psoas
32	chr11:86317400-86318400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:86317400-86319200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:86317400-86319600	Enhancers	Aorta	Aorta
35	chr11:86317400-86319600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:86317400-86320000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:86317400-86320000	Enhancers	HSMM	muscle
38	chr11:86317400-86320000	Enhancers	NH-A	brain
39	chr11:86317400-86320000	Enhancers	NHDF-Ad	bronchial
40	chr11:86317400-86320200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:86317400-86321600	Weak transcription	Pancreas	Pancrea
42	chr11:86317600-86318200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr11:86317600-86318400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:86317600-86318400	Enhancers	HSMMtube	muscle
45	chr11:86317600-86318400	Enhancers	NHLF	lung
46	chr11:86317600-86318600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:86317600-86318800	Weak transcription	Right Atrium	heart
48	chr11:86317600-86319200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:86317600-86319600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:86317600-86320000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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