Variant report

Variant	esv3434753
Chromosome Location	chr11:85775448-85775917
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85768733..85771194-chr11:85773077..85775713,3	MCF-7	breast:
2	chr11:85775786..85777864-chr11:85954494..85956140,2	MCF-7	breast:
3	chr11:85774012..85776185-chr11:85778129..85779860,2	MCF-7	breast:
4	chr11:85773252..85777138-chr11:85860597..85863727,3	K562	blood:
5	chr11:85775759..85778337-chr11:85946507..85948966,2	K562	blood:
6	chr11:85762145..85764012-chr11:85775530..85778515,2	MCF-7	breast:
7	chr11:85755134..85758081-chr11:85773891..85777241,3	K562	blood:
8	chr11:85775017..85777690-chr11:85953768..85955485,2	K562	blood:
9	chr11:85775018..85777414-chr11:85781077..85783520,2	K562	blood:
10	chr11:85774766..85777240-chr11:85903999..85905671,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254699	chromatin interactions
ENSG00000073921	chromatin interactions
ENSG00000074266	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142689551	chr11:85775472-85775473	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376825445	chr11:85775484-85775485	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572964276	chr11:85775564-85775565	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116926403	chr11:85775583-85775584	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs192363010	chr11:85775589-85775590	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545128036	chr11:85775603-85775604	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs374674653	chr11:85775651-85775652	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376868379	chr11:85775668-85775669	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184265811	chr11:85775674-85775675	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs61907323	chr11:85775690-85775691	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs374411862	chr11:85775693-85775694	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs11403335	chr11:85775694-85775695	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561078298	chr11:85775714-85775715	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201999662	chr11:85775718-85775719	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs200142347	chr11:85775721-85775722	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550065295	chr11:85775811-85775812	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs12283160	chr11:85775818-85775819	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538813247	chr11:85775825-85775826	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs583463	chr11:85775828-85775829	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85752800-85776400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:85756000-85776000	Weak transcription	Esophagus	oesophagus
3	chr11:85764400-85777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:85765600-85777800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:85768800-85776600	Enhancers	Liver	Liver
6	chr11:85769400-85776400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:85769400-85777200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:85770400-85776600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:85770800-85776600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:85770800-85776600	Weak transcription	Stomach Mucosa	stomach
11	chr11:85770800-85776800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:85770800-85777600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:85770800-85778200	Weak transcription	Gastric	stomach
14	chr11:85771200-85776600	Enhancers	HepG2	liver
15	chr11:85772200-85775600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:85772200-85777400	Weak transcription	Colonic Mucosa	Colon
17	chr11:85772400-85776600	Weak transcription	Aorta	Aorta
18	chr11:85772600-85776600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:85772800-85776600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:85772800-85777200	Enhancers	Primary B cells from peripheral blood	blood
21	chr11:85773000-85775600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:85773200-85776000	Enhancers	Brain Anterior Caudate	brain
23	chr11:85773200-85776600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:85773200-85776600	Active TSS	K562	blood
25	chr11:85773200-85778200	Weak transcription	Pancreas	Pancrea
26	chr11:85773400-85777600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:85773600-85775600	Enhancers	Fetal Lung	lung
28	chr11:85773600-85775800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:85773600-85776200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:85773600-85776200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr11:85773600-85776200	Flanking Active TSS	HUVEC	blood vessel
32	chr11:85773600-85776800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:85773600-85777800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:85773600-85778800	Weak transcription	Spleen	Spleen
35	chr11:85773600-85781000	Active TSS	Right Ventricle	heart
36	chr11:85773800-85775600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:85773800-85775600	Enhancers	Colon Smooth Muscle	Colon
38	chr11:85773800-85775600	Enhancers	A549	lung
39	chr11:85773800-85776200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:85773800-85776400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:85773800-85777000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:85773800-85780600	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:85773800-85780600	Active TSS	GM12878-XiMat	blood
44	chr11:85774000-85776400	Enhancers	Brain Substantia Nigra	brain
45	chr11:85774000-85776800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:85774000-85777400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:85774200-85775600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:85774200-85776000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:85774400-85776600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:85774600-85775600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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