Variant report

Variant	esv1642331
Chromosome Location	chr11:3757012-3757020
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	chr11:3732805..3734447-chr11:3756261..3757990,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71041385	chr11:3757013-3757014	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61877584	chr11:3757018-3757019	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3685200-3766800	Strong transcription	Placenta	Placenta
2	chr11:3685400-3802600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:3685600-3805600	Strong transcription	Fetal Thymus	thymus
4	chr11:3685800-3776200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr11:3685800-3779800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:3686000-3779800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:3686600-3802600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:3686800-3757400	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:3687000-3805600	Strong transcription	Dnd41	blood
10	chr11:3687200-3767000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:3687600-3802200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr11:3687600-3802200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:3687800-3801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:3696200-3779800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:3696800-3766800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:3705800-3802400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:3706200-3757800	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:3707400-3758000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:3719000-3779800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:3719800-3758000	Strong transcription	Primary T cells from cord blood	blood
21	chr11:3720000-3803000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:3722000-3802400	Strong transcription	Fetal Stomach	stomach
23	chr11:3729000-3757800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:3729400-3758200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:3729800-3757200	Strong transcription	Fetal Brain Female	brain
26	chr11:3731200-3779800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:3731600-3802200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:3732000-3779800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:3732200-3779800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:3732200-3803400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:3732400-3804400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:3732400-3808000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:3732600-3803600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:3733400-3757800	Strong transcription	Adipose Nuclei	Adipose
35	chr11:3733600-3803600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:3734000-3767000	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr11:3734000-3803000	Strong transcription	Fetal Intestine Large	intestine
38	chr11:3738600-3772800	Weak transcription	Psoas Muscle	Psoas
39	chr11:3739400-3817600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:3739800-3803000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:3742000-3757800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:3742400-3802600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:3743000-3757400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:3744600-3769600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr11:3744600-3772600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr11:3744800-3759400	Strong transcription	HSMM	muscle
47	chr11:3745600-3759000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:3745600-3759000	Strong transcription	Osteobl	bone
49	chr11:3745600-3769000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:3745800-3757800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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