Variant report

Variant	esv3363742
Chromosome Location	chr11:65648076-65648416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85B-1	chr11:65647673-65648093	NONHSAT022240

Variant related genes	Relation type
ENSG00000172500	chromatin interactions
ENSG00000175602	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190382946	chr11:65648084-65648085	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs577263469	chr11:65648096-65648097	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs645900	chr11:65648135-65648136	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs150337276	chr11:65648194-65648195	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs115375470	chr11:65648198-65648199	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572833696	chr11:65648215-65648216	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561719844	chr11:65648247-65648248	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530878677	chr11:65648286-65648287	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377616282	chr11:65648293-65648294	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs74572640	chr11:65648327-65648328	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs563740096	chr11:65648399-65648400	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65641000-65654400	Weak transcription	Fetal Heart	heart
2	chr11:65641400-65648600	Weak transcription	Spleen	Spleen
3	chr11:65641400-65648600	Weak transcription	HUVEC	blood vessel
4	chr11:65641400-65648800	Weak transcription	HSMMtube	muscle
5	chr11:65641400-65649000	Weak transcription	Right Ventricle	heart
6	chr11:65641400-65649200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65641400-65649200	Weak transcription	Lung	lung
8	chr11:65641400-65649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:65641400-65649600	Weak transcription	Gastric	stomach
10	chr11:65641400-65649800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:65641400-65649800	Weak transcription	Osteobl	bone
12	chr11:65641400-65650000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:65641400-65650000	Weak transcription	Aorta	Aorta
14	chr11:65641400-65650000	Weak transcription	A549	lung
15	chr11:65641400-65650400	Weak transcription	Fetal Kidney	kidney
16	chr11:65641400-65650400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:65641400-65650600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:65641400-65651000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:65641400-65654000	Weak transcription	Small Intestine	intestine
20	chr11:65641600-65648200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:65641600-65648200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:65641600-65648600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:65641600-65648600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:65641600-65648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:65641600-65648800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:65641600-65648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:65641600-65648800	Weak transcription	Brain Germinal Matrix	brain
28	chr11:65641600-65648800	Weak transcription	Fetal Brain Female	brain
29	chr11:65641600-65648800	Weak transcription	NHEK	skin
30	chr11:65641600-65648800	Weak transcription	NHLF	lung
31	chr11:65641600-65649000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:65641600-65649000	Weak transcription	Placenta	Placenta
33	chr11:65641600-65649200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:65641600-65649200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:65641600-65649200	Weak transcription	Brain Anterior Caudate	brain
36	chr11:65641600-65649400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:65641600-65649400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:65641600-65649600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:65641600-65649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:65641600-65649600	Weak transcription	Brain Angular Gyrus	brain
41	chr11:65641600-65649600	Weak transcription	Brain Substantia Nigra	brain
42	chr11:65641600-65649800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:65641600-65649800	Weak transcription	Adipose Nuclei	Adipose
44	chr11:65641600-65649800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:65641600-65649800	Weak transcription	Ovary	ovary
46	chr11:65641600-65649800	Weak transcription	Pancreas	Pancrea
47	chr11:65641600-65650000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:65641600-65650000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:65641600-65650000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:65641600-65650000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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