Variant report

Variant	esv3478119
Chromosome Location	chr11:74659227-74659389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:74659380-74662170	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:74459112..74461560-chr11:74659129..74661254,3	MCF-7	breast:
2	chr11:74658459..74662580-chr11:74698519..74701644,8	MCF-7	breast:
3	chr11:74647283..74650920-chr11:74658326..74663032,5	K562	blood:
4	chr11:74658436..74661013-chr11:74696774..74699429,2	MCF-7	breast:
5	chr11:74656443..74658415-chr11:74658426..74661700,3	MCF-7	breast:
6	chr11:74657727..74660130-chr11:74951983..74953797,2	K562	blood:
7	chr11:74654949..74658411-chr11:74658805..74662988,5	MCF-7	breast:
8	chr11:74659008..74661915-chr11:74699636..74702523,6	MCF-7	breast:
9	chr11:74659109..74661906-chr11:74698267..74701116,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265344	TF binding region
SPCS2	TF binding region
ENSG00000255136	chromatin interactions
ENSG00000166439	chromatin interactions
ENSG00000265344	chromatin interactions
ENSG00000166435	chromatin interactions
ENSG00000162139	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536286968	chr11:74659295-74659296	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs10706086	chr11:74659296-74659297	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs9787897	chr11:74659302-74659303	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs540061215	chr11:74659353-74659354	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs149047435	chr11:74659356-74659357	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs11236272	chr11:74659368-74659369	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536489338	chr11:74659381-74659382	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74618000-74659600	Weak transcription	Esophagus	oesophagus
2	chr11:74620400-74659600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:74628200-74659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:74632200-74659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:74633000-74659400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:74642000-74659400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:74642000-74659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:74644200-74659400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:74648000-74659400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr11:74648000-74659400	Weak transcription	Fetal Brain Female	brain
11	chr11:74648000-74659600	Weak transcription	Pancreas	Pancrea
12	chr11:74648000-74659600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:74648000-74659600	Weak transcription	Spleen	Spleen
14	chr11:74648200-74659600	Weak transcription	Brain Germinal Matrix	brain
15	chr11:74648200-74659600	Weak transcription	Fetal Thymus	thymus
16	chr11:74648200-74659600	Weak transcription	Left Ventricle	heart
17	chr11:74648400-74659600	Weak transcription	Fetal Heart	heart
18	chr11:74648600-74659600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:74651400-74659400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:74651600-74659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:74652000-74659600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:74652000-74659600	Weak transcription	Gastric	stomach
23	chr11:74652200-74659400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:74652200-74659600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:74652200-74659600	Weak transcription	Ovary	ovary
26	chr11:74652400-74659400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:74652400-74659400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:74652800-74659600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:74652800-74659600	Weak transcription	Lung	lung
30	chr11:74654000-74659400	Weak transcription	Colonic Mucosa	Colon
31	chr11:74654000-74659400	Weak transcription	Fetal Lung	lung
32	chr11:74654400-74659600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:74654600-74659400	Weak transcription	Primary T cells from cord blood	blood
34	chr11:74655200-74659600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:74655400-74659600	Weak transcription	HSMM	muscle
36	chr11:74655600-74659400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:74655600-74659400	Weak transcription	NHLF	lung
38	chr11:74655600-74659600	Weak transcription	Placenta	Placenta
39	chr11:74655800-74659400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:74655800-74659400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:74655800-74659400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:74655800-74659400	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:74655800-74659600	Weak transcription	Aorta	Aorta
44	chr11:74656000-74659400	Weak transcription	Thymus	Thymus
45	chr11:74656000-74659400	Weak transcription	NHDF-Ad	bronchial
46	chr11:74656400-74659600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:74657400-74659600	Weak transcription	Stomach Mucosa	stomach
48	chr11:74658200-74659400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:74658400-74659400	Weak transcription	Fetal Stomach	stomach
50	chr11:74658600-74659400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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