Variant report

Variant	esv3433386
Chromosome Location	chr11:34137627-34137971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34073245..34075312-chr11:34135237..34137674,3	K562	blood:
2	chr11:34137052..34139427-chr11:34141511..34144256,2	K562	blood:
3	chr11:34137720..34140425-chr11:34144910..34146570,2	K562	blood:
4	chr11:34135311..34137752-chr11:34141204..34143736,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135387	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546473269	chr11:34137644-34137645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183587820	chr11:34137645-34137646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535371443	chr11:34137663-34137664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60015864	chr11:34137686-34137687	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs58755000	chr11:34137713-34137714	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186925668	chr11:34137749-34137750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557847075	chr11:34137761-34137762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577804487	chr11:34137788-34137789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146039911	chr11:34137814-34137815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139978094	chr11:34137861-34137862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16925184	chr11:34137875-34137876	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs542920447	chr11:34137913-34137914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191398962	chr11:34137919-34137920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80179115	chr11:34137932-34137933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:79)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34128000-34168000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:34128200-34169800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:34128600-34173200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:34128600-34176400	Strong transcription	Fetal Stomach	stomach
5	chr11:34128800-34138800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:34128800-34163600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:34128800-34178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:34129000-34147200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:34129000-34150200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:34129000-34157200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:34129000-34170000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:34129000-34177400	Strong transcription	Osteobl	bone
13	chr11:34129000-34177800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:34129200-34151200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:34129200-34166400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr11:34129200-34168200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:34129200-34169800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr11:34129200-34169800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:34129200-34174600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:34129200-34177800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:34129400-34151200	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr11:34129400-34172600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:34129400-34173400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:34129400-34175600	Strong transcription	Fetal Thymus	thymus
25	chr11:34129600-34137800	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr11:34129600-34145200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:34129600-34145400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:34129600-34149600	Strong transcription	NHEK	skin
29	chr11:34129600-34150200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:34129600-34160600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:34129600-34167200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:34129600-34168600	Strong transcription	Placenta	Placenta
33	chr11:34129600-34169400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:34129600-34170600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:34129600-34171400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr11:34129600-34171800	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:34129600-34172800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:34129600-34175000	Strong transcription	Brain Anterior Caudate	brain
39	chr11:34129600-34177200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:34129600-34178200	Strong transcription	Liver	Liver
41	chr11:34129800-34137800	Strong transcription	NHDF-Ad	bronchial
42	chr11:34129800-34138000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:34129800-34138000	Strong transcription	Brain Angular Gyrus	brain
44	chr11:34129800-34138400	Strong transcription	GM12878-XiMat	blood
45	chr11:34129800-34143000	Strong transcription	Right Ventricle	heart
46	chr11:34129800-34145200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:34129800-34145200	Strong transcription	Brain Substantia Nigra	brain
48	chr11:34129800-34146600	Strong transcription	Brain Hippocampus Middle	brain
49	chr11:34129800-34147000	Strong transcription	HMEC	breast
50	chr11:34129800-34150000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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