Variant report

Variant	nsv555652
Chromosome Location	chr11:85891148-85895909
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85872408..85874802-chr11:85892436..85894621,2	K562	blood:
2	chr11:85827660..85829775-chr11:85890965..85893540,2	K562	blood:
3	chr11:85894174..85895049-chr11:85903549..85904117,2	Hela-S3	cervix:
4	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
5	chr11:85853323..85855104-chr11:85891791..85893559,2	K562	blood:
6	chr11:85849886..85854014-chr11:85893559..85897041,3	K562	blood:
7	chr11:85780298..85782257-chr11:85893128..85895149,2	K562	blood:
8	chr11:85777970..85780029-chr11:85892784..85894439,2	K562	blood:
9	chr11:85891211..85894125-chr11:85910067..85912680,3	K562	blood:
10	chr11:85861500..85864478-chr11:85889998..85891794,2	K562	blood:
11	chr11:85857814..85859738-chr11:85892040..85894023,2	K562	blood:
12	chr11:85890926..85895677-chr11:85901056..85906162,7	K562	blood:
13	chr11:85753896..85756405-chr11:85894218..85896804,2	K562	blood:
14	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:
15	chr11:85836520..85838381-chr11:85894260..85896246,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200877	chromatin interactions
ENSG00000073921	chromatin interactions
ENSG00000254699	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs199884621	chr11:85891205-85891206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143564662	chr11:85891211-85891212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547072883	chr11:85891215-85891216	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527374268	chr11:85891224-85891225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557196682	chr11:85891231-85891232	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535665834	chr11:85891232-85891233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534034071	chr11:85891235-85891236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553391453	chr11:85891252-85891253	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181239825	chr11:85891258-85891259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs377226719	chr11:85891261-85891262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371318289	chr11:85891297-85891298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144601803	chr11:85891370-85891371	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185141988	chr11:85891408-85891409	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575758916	chr11:85891422-85891423	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189608692	chr11:85891430-85891431	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564754973	chr11:85891433-85891434	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533448727	chr11:85891456-85891457	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540571244	chr11:85891458-85891459	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562383058	chr11:85891471-85891472	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs138529091	chr11:85891498-85891499	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529592417	chr11:85891500-85891501	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568087220	chr11:85891549-85891550	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539004769	chr11:85891556-85891557	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530686758	chr11:85891571-85891572	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs114795737	chr11:85891647-85891648	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11602811	chr11:85891661-85891662	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183249564	chr11:85891674-85891675	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538190057	chr11:85891688-85891689	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187562801	chr11:85891689-85891690	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539842297	chr11:85891724-85891725	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566854879	chr11:85891743-85891744	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs535865185	chr11:85891769-85891770	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141182066	chr11:85891793-85891794	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs150748921	chr11:85891796-85891797	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192249156	chr11:85891837-85891838	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183626417	chr11:85891959-85891960	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139851512	chr11:85891994-85891995	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567019938	chr11:85891997-85891998	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540511588	chr11:85891998-85891999	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs118165688	chr11:85892003-85892004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528051930	chr11:85892016-85892017	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188562678	chr11:85892053-85892054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149399955	chr11:85892068-85892069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs192767971	chr11:85892093-85892094	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530509847	chr11:85892105-85892106	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116083942	chr11:85892119-85892120	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184020767	chr11:85892136-85892137	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186871364	chr11:85892145-85892146	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144808780	chr11:85892188-85892189	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140187768	chr11:85892198-85892199	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85882600-85891600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:85883200-85891400	Weak transcription	Thymus	Thymus
3	chr11:85885200-85895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:85886000-85891600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:85886000-85891600	Weak transcription	Fetal Thymus	thymus
6	chr11:85886000-85894000	Weak transcription	Esophagus	oesophagus
7	chr11:85886000-85894000	Weak transcription	Pancreas	Pancrea
8	chr11:85886000-85903000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:85886200-85893800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:85886800-85894000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:85887000-85891600	Weak transcription	Brain Angular Gyrus	brain
12	chr11:85887000-85892800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:85887000-85894000	Weak transcription	Right Atrium	heart
14	chr11:85887200-85894200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr11:85887200-85898000	Weak transcription	Brain Anterior Caudate	brain
16	chr11:85887600-85891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:85887800-85892400	Enhancers	Adipose Nuclei	Adipose
18	chr11:85887800-85893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:85888000-85891400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr11:85888000-85893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:85888000-85894000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:85888600-85893400	Weak transcription	Fetal Intestine Large	intestine
23	chr11:85888800-85893000	Weak transcription	Fetal Intestine Small	intestine
24	chr11:85888800-85893400	Weak transcription	HMEC	breast
25	chr11:85888800-85893600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:85888800-85893800	Enhancers	K562	blood
27	chr11:85888800-85894000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:85888800-85894000	Weak transcription	A549	lung
29	chr11:85888800-85894000	Weak transcription	GM12878-XiMat	blood
30	chr11:85888800-85894000	Enhancers	Hela-S3	cervix
31	chr11:85888800-85894200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:85888800-85894200	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:85888800-85894200	Weak transcription	Spleen	Spleen
34	chr11:85888800-85895600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:85888800-85896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:85889000-85895800	Weak transcription	Psoas Muscle	Psoas
37	chr11:85889400-85895200	Enhancers	Primary hematopoietic stem cells	blood
38	chr11:85889800-85891200	Weak transcription	Primary B cells from cord blood	blood
39	chr11:85889800-85891200	Weak transcription	HUVEC	blood vessel
40	chr11:85890200-85891200	Enhancers	Rectal Smooth Muscle	rectum
41	chr11:85890400-85891200	Enhancers	Liver	Liver
42	chr11:85890400-85891200	Enhancers	Lung	lung
43	chr11:85890400-85891200	Enhancers	HepG2	liver
44	chr11:85890400-85893400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:85890600-85891600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:85890600-85894200	Weak transcription	Small Intestine	intestine
47	chr11:85890600-85894400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:85890600-85895800	Weak transcription	Ovary	ovary
49	chr11:85890800-85894000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:85890800-85894000	Weak transcription	Muscle Satellite Cultured Cells	--

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