Variant report

Variant	esv3431867
Chromosome Location	chr11:9477926-9478353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9403958..9411793-chr11:9477944..9485616,22	K562	blood:
2	chr11:9476699..9479539-chr11:9481471..9484137,3	MCF-7	breast:
3	chr11:9474328..9476179-chr11:9477857..9479855,2	MCF-7	breast:
4	chr11:9475198..9478964-chr11:9479689..9482782,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268403	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000205339	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375086999	chr11:9477948-9477949	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs368459880	chr11:9477951-9477952	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs532974211	chr11:9477953-9477954	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs558053892	chr11:9477957-9477958	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546611512	chr11:9477996-9477997	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376097819	chr11:9478092-9478093	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs535759282	chr11:9478102-9478103	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183538773	chr11:9478110-9478111	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs11042363	chr11:9478118-9478119	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs545636094	chr11:9478132-9478133	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs544378509	chr11:9478140-9478141	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs7122499	chr11:9478162-9478163	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs577688379	chr11:9478220-9478221	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs539892519	chr11:9478247-9478248	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs559724288	chr11:9478283-9478284	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs115345894	chr11:9478337-9478338	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs549316209	chr11:9478352-9478353	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9452800-9480000	Weak transcription	Fetal Brain Male	brain
2	chr11:9457800-9480600	Weak transcription	Psoas Muscle	Psoas
3	chr11:9462200-9481000	Weak transcription	NHLF	lung
4	chr11:9463400-9481000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:9463800-9481000	Weak transcription	NHDF-Ad	bronchial
6	chr11:9464800-9480800	Weak transcription	HSMMtube	muscle
7	chr11:9465000-9480800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:9465000-9480800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:9465000-9481000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:9465200-9481000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:9465200-9481200	Weak transcription	Ovary	ovary
12	chr11:9465400-9481000	Weak transcription	Brain Substantia Nigra	brain
13	chr11:9465400-9481000	Weak transcription	K562	blood
14	chr11:9465800-9480600	Weak transcription	Esophagus	oesophagus
15	chr11:9465800-9481000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:9466400-9480600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:9466600-9480800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:9466800-9480800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:9466800-9481000	Weak transcription	Fetal Lung	lung
20	chr11:9467000-9480800	Weak transcription	Lung	lung
21	chr11:9467400-9480800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:9468000-9481000	Weak transcription	Fetal Heart	heart
23	chr11:9468000-9481000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:9468000-9481000	Weak transcription	NH-A	brain
25	chr11:9468200-9481000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:9470200-9480800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:9470200-9480800	Weak transcription	Left Ventricle	heart
28	chr11:9470200-9480800	Weak transcription	HSMM	muscle
29	chr11:9470200-9480800	Weak transcription	NHEK	skin
30	chr11:9470200-9481000	Weak transcription	A549	lung
31	chr11:9470200-9481000	Weak transcription	HUVEC	blood vessel
32	chr11:9470200-9481200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:9470400-9480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:9470400-9480800	Weak transcription	HMEC	breast
35	chr11:9470400-9481000	Weak transcription	Osteobl	bone
36	chr11:9470600-9480800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:9470800-9480800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:9471000-9480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:9471000-9480800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:9471600-9480200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:9472000-9480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:9473200-9480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:9473600-9480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:9473800-9480600	Weak transcription	Brain Germinal Matrix	brain
45	chr11:9473800-9480800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:9474000-9480800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:9474000-9480800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:9474000-9480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:9474000-9481000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:9475200-9481200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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