Variant report

Variant	nsv825941
Chromosome Location	chr11:63724276-63724849
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63708455..63711957-chr11:63724529..63727502,3	K562	blood:
2	chr11:63724309..63727008-chr11:63727662..63729826,2	MCF-7	breast:
3	chr11:63721885..63726224-chr11:63740500..63742483,3	K562	blood:
4	chr11:63580669..63582800-chr11:63724789..63726503,2	K562	blood:
5	chr11:63705830..63707459-chr11:63723406..63725247,2	MCF-7	breast:
6	chr11:63721106..63724001-chr11:63724769..63727723,3	MCF-7	breast:
7	chr11:63724196..63727402-chr11:63741980..63743547,3	MCF-7	breast:
8	chr11:63717794..63720318-chr11:63722548..63724637,2	K562	blood:
9	chr11:63602956..63604586-chr11:63723382..63725607,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110583	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000256100	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529667879	chr11:63724287-63724288	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs320126	chr11:63724300-63724301	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573407471	chr11:63724308-63724309	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs377546748	chr11:63724321-63724322	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs542432051	chr11:63724338-63724339	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs559689467	chr11:63724445-63724446	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs59573507	chr11:63724458-63724459	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs1059201	chr11:63724494-63724495	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs1059202	chr11:63724496-63724497	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs546650584	chr11:63724498-63724499	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs1059203	chr11:63724501-63724502	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs562218058	chr11:63724535-63724536	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs139177865	chr11:63724544-63724545	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs551221475	chr11:63724583-63724584	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs200581149	chr11:63724664-63724665	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs1059205	chr11:63724667-63724668	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs202234263	chr11:63724678-63724679	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs201645170	chr11:63724679-63724680	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs375380150	chr11:63724680-63724681	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs201769317	chr11:63724682-63724683	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs57675674	chr11:63724684-63724685	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs59290702	chr11:63724685-63724686	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs200291718	chr11:63724686-63724687	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs200402503	chr11:63724692-63724693	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs201562521	chr11:63724695-63724696	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs370716104	chr11:63724696-63724697	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs72324760	chr11:63724723-63724724	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs528765129	chr11:63724750-63724751	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs557996959	chr11:63724809-63724810	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs564650204	chr11:63724812-63724813	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs532922068	chr11:63724824-63724825	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs188339291	chr11:63724826-63724827	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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	21785460	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
2	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:63713400-63725200	Strong transcription	Fetal Intestine Small	intestine
4	chr11:63713400-63725400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:63713400-63725800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63713400-63726200	Strong transcription	Fetal Stomach	stomach
7	chr11:63713400-63726800	Weak transcription	Fetal Brain Male	brain
8	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
9	chr11:63713600-63724400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:63713600-63725200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:63713600-63726000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:63713800-63724400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:63713800-63726000	Strong transcription	Fetal Muscle Leg	muscle
14	chr11:63714000-63726200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:63717600-63726200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:63717600-63726200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:63717800-63726000	Strong transcription	Brain Germinal Matrix	brain
18	chr11:63717800-63726000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:63718200-63725800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:63718800-63726000	Strong transcription	Fetal Brain Female	brain
21	chr11:63719200-63725800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:63719400-63726000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:63719600-63724400	Strong transcription	Gastric	stomach
24	chr11:63719600-63725200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:63719600-63725200	Strong transcription	Pancreas	Pancrea
26	chr11:63719600-63725800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr11:63719600-63726000	Strong transcription	Brain Anterior Caudate	brain
28	chr11:63719800-63724400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:63719800-63725600	Strong transcription	Liver	Liver
30	chr11:63719800-63726000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr11:63719800-63726000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:63720000-63724400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:63720000-63724400	Strong transcription	Fetal Intestine Large	intestine
34	chr11:63720200-63724600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:63720400-63724400	Strong transcription	NHEK	skin
36	chr11:63720400-63725400	Strong transcription	Thymus	Thymus
37	chr11:63720400-63725400	Strong transcription	Dnd41	blood
38	chr11:63720400-63725800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:63720400-63726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:63720400-63728600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:63720400-63729000	Weak transcription	NHDF-Ad	bronchial
42	chr11:63720600-63725200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:63720600-63725800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:63720600-63726000	Strong transcription	Primary T cells from cord blood	blood
45	chr11:63721000-63724800	Strong transcription	Fetal Thymus	thymus
46	chr11:63721000-63725000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:63721000-63728800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:63721200-63728400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:63721400-63724400	Strong transcription	NHLF	lung
50	chr11:63721800-63724400	Weak transcription	Fetal Kidney	kidney

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