Variant report

Variant	esv2421379
Chromosome Location	chr11:85889658-85898821
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85827660..85829775-chr11:85890965..85893540,2	K562	blood:
2	chr11:85891211..85894125-chr11:85910067..85912680,3	K562	blood:
3	chr11:85861500..85864478-chr11:85889998..85891794,2	K562	blood:
4	chr11:85868596..85870226-chr11:85886997..85889880,2	K562	blood:
5	chr11:85868370..85870226-chr11:85888178..85889880,2	K562	blood:
6	chr11:85780298..85782257-chr11:85893128..85895149,2	K562	blood:
7	chr11:85777970..85780029-chr11:85892784..85894439,2	K562	blood:
8	chr11:85894174..85895049-chr11:85903549..85904117,2	Hela-S3	cervix:
9	chr11:85888440..85890283-chr11:85910710..85912765,2	K562	blood:
10	chr11:85890926..85895677-chr11:85901056..85906162,7	K562	blood:
11	chr11:85857814..85859738-chr11:85892040..85894023,2	K562	blood:
12	chr11:85872408..85874802-chr11:85892436..85894621,2	K562	blood:
13	chr11:85849886..85854014-chr11:85893559..85897041,3	K562	blood:
14	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:
15	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
16	chr11:85887352..85890234-chr11:85905723..85909475,3	K562	blood:
17	chr11:85836520..85838381-chr11:85894260..85896246,2	K562	blood:
18	chr11:85753896..85756405-chr11:85894218..85896804,2	K562	blood:
19	chr11:85853323..85855104-chr11:85891791..85893559,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000073921	chromatin interactions
ENSG00000254502	chromatin interactions
ENSG00000200877	chromatin interactions
ENSG00000254699	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:371 , 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	rs137878681	chr11:85889664-85889665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142327302	chr11:85889716-85889717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569316866	chr11:85889726-85889727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs118026065	chr11:85889733-85889734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192906750	chr11:85889738-85889739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560882381	chr11:85889762-85889763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530002036	chr11:85889800-85889801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371559432	chr11:85889821-85889822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543802763	chr11:85889841-85889842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184450470	chr11:85889873-85889874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145949509	chr11:85889887-85889888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139859272	chr11:85889920-85889921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188216299	chr11:85889933-85889934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528732897	chr11:85890014-85890015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs10792835	chr11:85890037-85890038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568789156	chr11:85890050-85890051	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535822445	chr11:85890055-85890056	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs181962775	chr11:85890058-85890059	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184790023	chr11:85890065-85890066	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189118445	chr11:85890097-85890098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375810242	chr11:85890111-85890112	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554791755	chr11:85890119-85890120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558395738	chr11:85890129-85890130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574449058	chr11:85890155-85890156	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs367895751	chr11:85890164-85890165	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs181887185	chr11:85890179-85890180	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116984903	chr11:85890180-85890181	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs12417454	chr11:85890191-85890192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs577514787	chr11:85890197-85890198	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs186966785	chr11:85890203-85890204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs141686978	chr11:85890225-85890226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375418807	chr11:85890233-85890234	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534022908	chr11:85890261-85890262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144313304	chr11:85890272-85890273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148772963	chr11:85890315-85890316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142438383	chr11:85890336-85890337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375355055	chr11:85890343-85890344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs79774219	chr11:85890356-85890357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7128110	chr11:85890389-85890390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548801211	chr11:85890395-85890396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562325358	chr11:85890423-85890424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531225723	chr11:85890454-85890455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72962077	chr11:85890467-85890468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs151331552	chr11:85890468-85890469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140229752	chr11:85890474-85890475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551821160	chr11:85890475-85890476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531533341	chr11:85890511-85890512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534470729	chr11:85890512-85890513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554333506	chr11:85890519-85890520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574594281	chr11:85890624-85890625	Weak transcription Enhancers	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:243 , 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	chr11:85886000-85890200	Weak transcription	Ovary	ovary
8	chr11:85886000-85890800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:85886000-85891600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:85886000-85891600	Weak transcription	Fetal Thymus	thymus
11	chr11:85886000-85894000	Weak transcription	Esophagus	oesophagus
12	chr11:85886000-85894000	Weak transcription	Pancreas	Pancrea
13	chr11:85886000-85903000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:85886200-85889800	Weak transcription	Small Intestine	intestine
15	chr11:85886200-85890400	Weak transcription	Lung	lung
16	chr11:85886200-85893800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:85886400-85890200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:85886800-85894000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:85887000-85890400	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:85887000-85891600	Weak transcription	Brain Angular Gyrus	brain
21	chr11:85887000-85892800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:85887000-85894000	Weak transcription	Right Atrium	heart
23	chr11:85887200-85894200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:85887200-85898000	Weak transcription	Brain Anterior Caudate	brain
25	chr11:85887600-85891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:85887800-85892400	Enhancers	Adipose Nuclei	Adipose
27	chr11:85887800-85893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:85888000-85891400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:85888000-85893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:85888000-85894000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:85888200-85890400	Weak transcription	Liver	Liver
32	chr11:85888200-85890400	Weak transcription	HepG2	liver
33	chr11:85888600-85893400	Weak transcription	Fetal Intestine Large	intestine
34	chr11:85888800-85889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:85888800-85890200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:85888800-85890200	Weak transcription	Left Ventricle	heart
37	chr11:85888800-85890200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:85888800-85893000	Weak transcription	Fetal Intestine Small	intestine
39	chr11:85888800-85893400	Weak transcription	HMEC	breast
40	chr11:85888800-85893600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:85888800-85893800	Enhancers	K562	blood
42	chr11:85888800-85894000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:85888800-85894000	Weak transcription	A549	lung
44	chr11:85888800-85894000	Weak transcription	GM12878-XiMat	blood
45	chr11:85888800-85894000	Enhancers	Hela-S3	cervix
46	chr11:85888800-85894200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:85888800-85894200	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:85888800-85894200	Weak transcription	Spleen	Spleen
49	chr11:85888800-85895600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:85888800-85896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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