Variant report

Variant	nsv555650
Chromosome Location	chr11:85890389-85898770
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	chr11:85894174..85895049-chr11:85903549..85904117,2	Hela-S3	cervix:
2	chr11:85891211..85894125-chr11:85910067..85912680,3	K562	blood:
3	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:
4	chr11:85777970..85780029-chr11:85892784..85894439,2	K562	blood:
5	chr11:85853323..85855104-chr11:85891791..85893559,2	K562	blood:
6	chr11:85872408..85874802-chr11:85892436..85894621,2	K562	blood:
7	chr11:85890926..85895677-chr11:85901056..85906162,7	K562	blood:
8	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
9	chr11:85836520..85838381-chr11:85894260..85896246,2	K562	blood:
10	chr11:85780298..85782257-chr11:85893128..85895149,2	K562	blood:
11	chr11:85827660..85829775-chr11:85890965..85893540,2	K562	blood:
12	chr11:85849886..85854014-chr11:85893559..85897041,3	K562	blood:
13	chr11:85857814..85859738-chr11:85892040..85894023,2	K562	blood:
14	chr11:85753896..85756405-chr11:85894218..85896804,2	K562	blood:
15	chr11:85861500..85864478-chr11:85889998..85891794,2	K562	blood:

No data

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

Extended variants
information (count: 332 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7128110	chr11:85890389-85890390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548801211	chr11:85890395-85890396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562325358	chr11:85890423-85890424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531225723	chr11:85890454-85890455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72962077	chr11:85890467-85890468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs151331552	chr11:85890468-85890469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140229752	chr11:85890474-85890475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551821160	chr11:85890475-85890476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531533341	chr11:85890511-85890512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534470729	chr11:85890512-85890513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554333506	chr11:85890519-85890520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574594281	chr11:85890624-85890625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145345876	chr11:85890629-85890630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191309175	chr11:85890653-85890654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147679748	chr11:85890659-85890660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545902630	chr11:85890663-85890664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376607653	chr11:85890673-85890674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142383868	chr11:85890674-85890675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114280772	chr11:85890686-85890687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542381060	chr11:85890692-85890693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559825122	chr11:85890744-85890745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561575570	chr11:85890749-85890750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530318146	chr11:85890796-85890797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150222376	chr11:85890809-85890810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551239497	chr11:85890947-85890948	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564639795	chr11:85890959-85890960	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532104609	chr11:85890963-85890964	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145549206	chr11:85891031-85891032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148883009	chr11:85891065-85891066	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534410892	chr11:85891066-85891067	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547910153	chr11:85891132-85891133	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs199884621	chr11:85891205-85891206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143564662	chr11:85891211-85891212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547072883	chr11:85891215-85891216	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527374268	chr11:85891224-85891225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557196682	chr11:85891231-85891232	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535665834	chr11:85891232-85891233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534034071	chr11:85891235-85891236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553391453	chr11:85891252-85891253	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181239825	chr11:85891258-85891259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs377226719	chr11:85891261-85891262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371318289	chr11:85891297-85891298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs144601803	chr11:85891370-85891371	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs185141988	chr11:85891408-85891409	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575758916	chr11:85891422-85891423	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs189608692	chr11:85891430-85891431	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564754973	chr11:85891433-85891434	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533448727	chr11:85891456-85891457	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540571244	chr11:85891458-85891459	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562383058	chr11:85891471-85891472	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 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:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85882600-85890800	Enhancers	Placenta	Placenta
2	chr11:85882600-85891600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:85883200-85891400	Weak transcription	Thymus	Thymus
4	chr11:85883800-85890400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:85883800-85890800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:85885200-85895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:85886000-85890800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:85886000-85891600	Weak transcription	Brain Substantia Nigra	brain
9	chr11:85886000-85891600	Weak transcription	Fetal Thymus	thymus
10	chr11:85886000-85894000	Weak transcription	Esophagus	oesophagus
11	chr11:85886000-85894000	Weak transcription	Pancreas	Pancrea
12	chr11:85886000-85903000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:85886200-85890400	Weak transcription	Lung	lung
14	chr11:85886200-85893800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:85886800-85894000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:85887000-85890400	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:85887000-85891600	Weak transcription	Brain Angular Gyrus	brain
18	chr11:85887000-85892800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:85887000-85894000	Weak transcription	Right Atrium	heart
20	chr11:85887200-85894200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr11:85887200-85898000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:85887600-85891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:85887800-85892400	Enhancers	Adipose Nuclei	Adipose
24	chr11:85887800-85893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:85888000-85891400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:85888000-85893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:85888000-85894000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:85888200-85890400	Weak transcription	Liver	Liver
29	chr11:85888200-85890400	Weak transcription	HepG2	liver
30	chr11:85888600-85893400	Weak transcription	Fetal Intestine Large	intestine
31	chr11:85888800-85893000	Weak transcription	Fetal Intestine Small	intestine
32	chr11:85888800-85893400	Weak transcription	HMEC	breast
33	chr11:85888800-85893600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:85888800-85893800	Enhancers	K562	blood
35	chr11:85888800-85894000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:85888800-85894000	Weak transcription	A549	lung
37	chr11:85888800-85894000	Weak transcription	GM12878-XiMat	blood
38	chr11:85888800-85894000	Enhancers	Hela-S3	cervix
39	chr11:85888800-85894200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:85888800-85894200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:85888800-85894200	Weak transcription	Spleen	Spleen
42	chr11:85888800-85895600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:85888800-85896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:85889000-85895800	Weak transcription	Psoas Muscle	Psoas
45	chr11:85889400-85891000	Enhancers	Osteobl	bone
46	chr11:85889400-85895200	Enhancers	Primary hematopoietic stem cells	blood
47	chr11:85889600-85890800	Enhancers	NHDF-Ad	bronchial
48	chr11:85889800-85890400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:85889800-85890600	Enhancers	Small Intestine	intestine
50	chr11:85889800-85891200	Weak transcription	Primary B cells from cord blood	blood

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