Variant report

Variant	esv998472
Chromosome Location	chr11:65581362-65585126
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:51)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:65512051..65514239-chr11:65583382..65586329,2	K562	blood:
2	chr11:65477139..65479296-chr11:65581106..65583170,2	K562	blood:
3	chr11:65584264..65587334-chr11:65598974..65601332,3	K562	blood:
4	chr11:65581063..65583136-chr14:59275828..59277328,2	MCF-7	breast:
5	chr11:65546140..65552176-chr11:65581336..65587164,12	MCF-7	breast:
6	chr11:65580305..65583287-chr11:65625936..65628715,2	K562	blood:
7	chr11:65578671..65581535-chr11:65584408..65587256,5	K562	blood:
8	chr11:65478477..65481649-chr11:65584487..65588308,4	K562	blood:
9	chr11:65479454..65481331-chr11:65581878..65583711,2	MCF-7	breast:
10	chr11:65546417..65548238-chr11:65584736..65586372,65	MCF-7	breast:
11	chr11:65581388..65588369-chr11:65620968..65629930,12	MCF-7	breast:
12	chr11:65477796..65479455-chr11:65581611..65583170,2	K562	blood:
13	chr11:65534519..65536964-chr11:65583133..65585899,2	K562	blood:
14	chr11:65584332..65587287-chr11:65655323..65657100,2	K562	blood:
15	chr11:65547134..65547972-chr11:65582491..65583124,2	MCF-7	breast:
16	chr11:65512073..65513878-chr11:65584260..65586150,2	MCF-7	breast:
17	chr11:65478545..65480945-chr11:65580447..65582951,3	MCF-7	breast:
18	chr11:65581685..65586123-chr11:65617566..65620999,8	K562	blood:
19	chr11:65478220..65481152-chr11:65579976..65581531,2	MCF-7	breast:
20	chr11:65581685..65583304-chr11:65617806..65620424,2	K562	blood:
21	chr11:65541153..65542313-chr11:65585085..65586334,9	MCF-7	breast:
22	chr11:65484062..65489605-chr11:65581322..65585682,6	MCF-7	breast:
23	chr11:65582084..65587022-chr11:65624038..65628577,11	MCF-7	breast:
24	chr11:65478250..65482749-chr11:65583572..65587517,11	MCF-7	breast:
25	chr11:65583886..65587148-chr11:65616110..65620547,4	K562	blood:
26	chr11:65546622..65548622-chr11:65584340..65586362,19	K562	blood:
27	chr11:65548465..65551454-chr11:65582521..65585246,2	K562	blood:
28	chr11:65583716..65586107-chr11:65625688..65628072,3	K562	blood:
29	chr11:65581575..65585638-chr11:65589269..65592512,3	K562	blood:
30	chr11:65578671..65581535-chr11:65584408..65587256,5	K562	blood:
31	chr11:65545925..65552801-chr11:65581920..65586715,7	K562	blood:
32	chr11:65486263..65489234-chr11:65583583..65585809,2	K562	blood:
33	chr11:65547331..65547857-chr11:65584018..65584938,2	MCF-7	breast:
34	chr11:65574813..65576940-chr11:65582842..65584422,2	MCF-7	breast:
35	chr11:65584486..65587354-chr11:65754171..65756928,3	K562	blood:
36	chr11:65584338..65587063-chr11:65817506..65819503,2	K562	blood:
37	chr11:65546070..65548152-chr11:65584909..65587351,3	K562	blood:
38	chr11:65536504..65538956-chr11:65583165..65585823,2	K562	blood:
39	chr11:65552345..65559376-chr11:65580965..65587386,14	MCF-7	breast:
40	chr11:65478558..65482535-chr11:65584117..65589770,6	MCF-7	breast:
41	chr11:65581909..65583491-chr11:65584242..65587282,3	K562	blood:
42	chr11:65580481..65582382-chr11:65594017..65596909,2	K562	blood:
43	chr11:65273468..65276593-chr11:65582844..65587199,4	K562	blood:
44	chr11:65487587..65489954-chr11:65582507..65584679,2	MCF-7	breast:
45	chr11:65581909..65583491-chr11:65584242..65587282,3	K562	blood:
46	chr11:65553411..65554928-chr11:65582468..65584749,2	K562	blood:
47	chr11:65583782..65587125-chr11:65623983..65628474,5	K562	blood:
48	chr11:65559464..65561142-chr11:65583061..65585771,2	MCF-7	breast:
49	chr11:65581909..65583782-chr11:65584242..65586830,2	K562	blood:
50	chr11:65581909..65583782-chr11:65584242..65586830,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFL1-1	chr11:65582237-65583147	XLOC_009475
2	lnc-CFL1-4	chr11:65583595-65584758	NONHSAT022221

No data

Variant related genes	Relation type
ENSG00000172922	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000255557	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000172803	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000254470	chromatin interactions
ENSG00000087365	chromatin interactions
ENSG00000172818	chromatin interactions
ENSG00000175827	chromatin interactions
ENSG00000255120	chromatin interactions
ENSG00000172757	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs561771642	chr11:65581394-65581395	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs530780950	chr11:65581398-65581399	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs549361579	chr11:65581439-65581440	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs192550673	chr11:65581478-65581479	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs183004628	chr11:65581479-65581480	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs574123552	chr11:65581536-65581537	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs1204772	chr11:65581579-65581580	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs7113768	chr11:65581638-65581639	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535390333	chr11:65581641-65581642	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs549268909	chr11:65581663-65581664	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs573157148	chr11:65581665-65581666	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs138936103	chr11:65581678-65581679	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs375893316	chr11:65581683-65581684	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs557761263	chr11:65581709-65581710	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs577708155	chr11:65581722-65581723	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs7114237	chr11:65581752-65581753	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs553299320	chr11:65581762-65581763	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs7114014	chr11:65581772-65581773	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs149441852	chr11:65581810-65581811	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs188849985	chr11:65581813-65581814	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs147456886	chr11:65581907-65581908	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs544245800	chr11:65581963-65581964	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs376848361	chr11:65581994-65581995	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs78028320	chr11:65582015-65582016	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
25	rs547951970	chr11:65582025-65582026	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs7114298	chr11:65582028-65582029	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs529671417	chr11:65582038-65582039	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs547026139	chr11:65582063-65582064	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs560110477	chr11:65582064-65582065	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs139877100	chr11:65582092-65582093	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs549182950	chr11:65582127-65582128	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs569203403	chr11:65582128-65582129	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs538131182	chr11:65582137-65582138	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs551434654	chr11:65582144-65582145	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs34462626	chr11:65582160-65582161	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs571179612	chr11:65582171-65582172	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs192640442	chr11:65582173-65582174	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs184742228	chr11:65582201-65582202	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs189664981	chr11:65582214-65582215	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs535682892	chr11:65582222-65582223	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs555541156	chr11:65582227-65582228	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs35044714	chr11:65582329-65582330	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
43	rs191098684	chr11:65582340-65582341	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
44	rs398045739	chr11:65582341-65582342	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
45	rs559686867	chr11:65582349-65582350	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
46	rs5792372	chr11:65582350-65582351	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs397848156	chr11:65582351-65582352	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs147277480	chr11:65582360-65582361	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
49	rs148448755	chr11:65582366-65582367	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
50	rs540385047	chr11:65582374-65582375	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65574600-65581400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:65575400-65583800	Weak transcription	Brain Substantia Nigra	brain
3	chr11:65576400-65586000	Weak transcription	Spleen	Spleen
4	chr11:65577800-65583200	Enhancers	Adipose Nuclei	Adipose
5	chr11:65577800-65584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:65578000-65582200	Weak transcription	Left Ventricle	heart
7	chr11:65578000-65584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:65578200-65581600	Weak transcription	Pancreas	Pancrea
9	chr11:65578200-65582400	Weak transcription	Esophagus	oesophagus
10	chr11:65578200-65584400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:65578200-65585200	Weak transcription	Right Ventricle	heart
12	chr11:65578200-65585400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:65578200-65585400	Weak transcription	Gastric	stomach
14	chr11:65578400-65582000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr11:65578600-65585000	Enhancers	Placenta	Placenta
16	chr11:65578800-65584400	Weak transcription	Lung	lung
17	chr11:65579200-65584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:65579400-65581800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:65579400-65585000	Weak transcription	Primary T cells from cord blood	blood
20	chr11:65579600-65585200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:65579800-65581800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:65579800-65581800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:65579800-65581800	Weak transcription	Right Atrium	heart
24	chr11:65579800-65583800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:65579800-65584000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:65580000-65581600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:65580000-65581800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:65580000-65581800	Weak transcription	HSMMtube	muscle
29	chr11:65580000-65584400	Weak transcription	Liver	Liver
30	chr11:65580000-65584400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:65580000-65584600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:65580200-65581600	Weak transcription	NHDF-Ad	bronchial
33	chr11:65580200-65585000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:65580400-65582400	Weak transcription	Aorta	Aorta
35	chr11:65580600-65585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:65580800-65582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:65581200-65581400	Weak transcription	Hela-S3	cervix
38	chr11:65581200-65581800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:65581200-65582600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:65581200-65584400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:65581200-65585000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:65581400-65581600	Enhancers	Brain Anterior Caudate	brain
43	chr11:65581400-65581800	Enhancers	Osteobl	bone
44	chr11:65581400-65582400	Enhancers	Fetal Intestine Small	intestine
45	chr11:65581400-65582400	Enhancers	Hela-S3	cervix
46	chr11:65581400-65583200	Enhancers	NHEK	skin
47	chr11:65581400-65583400	Enhancers	Fetal Intestine Large	intestine
48	chr11:65581600-65581800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:65581600-65582200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:65581600-65582400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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