Variant report

Variant	esv1571596
Chromosome Location	chr11:76445324-76445459
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76444583..76446069-chr11:76756756..76757887,9	MCF-7	breast:
2	chr11:76444642..76445671-chr11:76509955..76510846,7	K562	blood:
3	chr11:76444941..76447137-chr11:76494986..76497317,3	K562	blood:
4	chr11:76444941..76446826-chr11:76495647..76497317,2	K562	blood:
5	chr11:76444321..76446462-chr11:76517342..76520030,2	K562	blood:
6	chr11:76444677..76445883-chr11:76549434..76550433,4	K562	blood:
7	chr11:76432736..76434565-chr11:76442976..76445333,2	MCF-7	breast:
8	chr11:76445344..76446073-chr11:76801899..76802836,2	K562	blood:
9	chr11:76444797..76445605-chr11:76756797..76757751,2	K562	blood:
10	chr11:76444677..76445621-chr11:76756756..76757566,3	MCF-7	breast:
11	chr11:76445009..76450493-chr11:76452594..76458852,7	K562	blood:
12	chr11:76443783..76447678-chr11:76493146..76497317,7	MCF-7	breast:
13	chr11:76445248..76448071-chr11:76628717..76631883,4	MCF-7	breast:
14	chr11:76444662..76445640-chr11:76629853..76630608,2	MCF-7	breast:
15	chr11:76444817..76447367-chr11:76477489..76481018,3	MCF-7	breast:
16	chr11:76443601..76445826-chr11:76571953..76574772,2	K562	blood:
17	chr11:76444256..76445576-chr11:76630135..76631218,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254632	chromatin interactions
ENSG00000255100	chromatin interactions
ENSG00000182704	chromatin interactions
ENSG00000078124	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71040017	chr11:76445325-76445326	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs534981863	chr11:76445346-76445347	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs113264520	chr11:76445459-76445460	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76433400-76456400	Weak transcription	Right Atrium	heart
2	chr11:76441400-76450200	Weak transcription	Liver	Liver
3	chr11:76441600-76445600	Weak transcription	Fetal Intestine Large	intestine
4	chr11:76445000-76446800	Enhancers	K562	blood
5	chr11:76445200-76445400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:76445200-76445400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr11:76445200-76445400	Enhancers	Left Ventricle	heart
8	chr11:76445200-76445600	Enhancers	Fetal Thymus	thymus
9	chr11:76445200-76446200	Enhancers	Fetal Intestine Small	intestine
10	chr11:76445200-76446400	Enhancers	Fetal Muscle Trunk	muscle
11	chr11:76445200-76446600	Enhancers	Colon Smooth Muscle	Colon
12	chr11:76445200-76446800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:76445200-76446800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:76445200-76448000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:76445200-76448800	Enhancers	A549	lung
16	chr11:76445400-76445800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:76445400-76448000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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