Variant report

Variant	nsv555662
Chromosome Location	chr11:85892483-85898770
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000254699	chromatin interactions
ENSG00000073921	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554000044	chr11:85892487-85892488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574005904	chr11:85892488-85892489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543348881	chr11:85892517-85892518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191271119	chr11:85892595-85892596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145665337	chr11:85892611-85892612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543955676	chr11:85892639-85892640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375196024	chr11:85892675-85892676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61904268	chr11:85892706-85892707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533130943	chr11:85892707-85892708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183755414	chr11:85892746-85892747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189648891	chr11:85892747-85892748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560447832	chr11:85892766-85892767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373557110	chr11:85892800-85892801	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537722805	chr11:85892812-85892813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549288467	chr11:85892903-85892904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182307164	chr11:85892904-85892905	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538255933	chr11:85892925-85892926	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs185305702	chr11:85892942-85892943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190107160	chr11:85892965-85892966	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534088913	chr11:85892972-85892973	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs17745594	chr11:85893051-85893052	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573939493	chr11:85893128-85893129	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544645069	chr11:85893183-85893184	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs140732890	chr11:85893253-85893254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553448031	chr11:85893294-85893295	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142316942	chr11:85893343-85893344	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544215972	chr11:85893396-85893397	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs564123378	chr11:85893412-85893413	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs115398358	chr11:85893431-85893432	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs7103707	chr11:85893436-85893437	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560367998	chr11:85893482-85893483	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181353755	chr11:85893499-85893500	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs76705671	chr11:85893507-85893508	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs7118445	chr11:85893514-85893515	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374745120	chr11:85893529-85893530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs531561790	chr11:85893623-85893624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs140515783	chr11:85893661-85893662	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571351386	chr11:85893683-85893684	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs527779370	chr11:85893747-85893748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547510829	chr11:85893775-85893776	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567502352	chr11:85893805-85893806	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs536867160	chr11:85893818-85893819	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs71465617	chr11:85893827-85893828	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs149928181	chr11:85893846-85893847	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs570331028	chr11:85893847-85893848	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs72962080	chr11:85893858-85893859	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369394887	chr11:85893916-85893917	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs374051354	chr11:85893918-85893919	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557777359	chr11:85893923-85893924	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577741719	chr11:85893959-85893960	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:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85885200-85895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:85886000-85894000	Weak transcription	Esophagus	oesophagus
3	chr11:85886000-85894000	Weak transcription	Pancreas	Pancrea
4	chr11:85886000-85903000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:85886200-85893800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:85886800-85894000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:85887000-85892800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:85887000-85894000	Weak transcription	Right Atrium	heart
9	chr11:85887200-85894200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr11:85887200-85898000	Weak transcription	Brain Anterior Caudate	brain
11	chr11:85887800-85893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:85888000-85893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:85888000-85894000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:85888600-85893400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:85888800-85893000	Weak transcription	Fetal Intestine Small	intestine
16	chr11:85888800-85893400	Weak transcription	HMEC	breast
17	chr11:85888800-85893600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:85888800-85893800	Enhancers	K562	blood
19	chr11:85888800-85894000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:85888800-85894000	Weak transcription	A549	lung
21	chr11:85888800-85894000	Weak transcription	GM12878-XiMat	blood
22	chr11:85888800-85894000	Enhancers	Hela-S3	cervix
23	chr11:85888800-85894200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:85888800-85894200	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:85888800-85894200	Weak transcription	Spleen	Spleen
26	chr11:85888800-85895600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:85888800-85896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:85889000-85895800	Weak transcription	Psoas Muscle	Psoas
29	chr11:85889400-85895200	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:85890400-85893400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:85890600-85894200	Weak transcription	Small Intestine	intestine
32	chr11:85890600-85894400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:85890600-85895800	Weak transcription	Ovary	ovary
34	chr11:85890800-85894000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:85890800-85894000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:85890800-85894000	Weak transcription	Placenta	Placenta
37	chr11:85890800-85894200	Weak transcription	NHDF-Ad	bronchial
38	chr11:85890800-85895400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:85890800-85895800	Weak transcription	Left Ventricle	heart
40	chr11:85891000-85895600	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:85891200-85894000	Weak transcription	Lung	lung
42	chr11:85891200-85894800	Weak transcription	Osteobl	bone
43	chr11:85891600-85894000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:85892000-85894000	Weak transcription	Thymus	Thymus
45	chr11:85892000-85894200	Weak transcription	Fetal Thymus	thymus
46	chr11:85892000-85895600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:85892200-85894400	Weak transcription	Primary B cells from cord blood	blood
48	chr11:85892200-85895000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:85892200-85895600	Weak transcription	Brain Substantia Nigra	brain
50	chr11:85892400-85892600	Enhancers	Monocytes-CD14+_RO01746	blood

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