Variant report

Variant	esv3488156
Chromosome Location	chr11:108801288-108804772
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	chr11:108799365..108802197-chr11:108803040..108805563,2	K562	blood:

Variant related genes	Relation type
ENSG00000178105	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529696466	chr11:108801319-108801320	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562277694	chr11:108801332-108801333	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532939007	chr11:108801366-108801367	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190288302	chr11:108801456-108801457	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560383758	chr11:108801465-108801466	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377062447	chr11:108801472-108801473	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527550269	chr11:108801510-108801511	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528940182	chr11:108801534-108801535	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144553844	chr11:108801610-108801611	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs76455284	chr11:108801676-108801677	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs117013726	chr11:108801688-108801689	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs34844990	chr11:108801717-108801718	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs529088572	chr11:108801740-108801741	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs370609508	chr11:108801769-108801770	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs569925700	chr11:108801821-108801822	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs540015483	chr11:108801864-108801865	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs182920237	chr11:108801868-108801869	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs567058038	chr11:108801910-108801911	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs534199675	chr11:108801927-108801928	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs547181930	chr11:108801972-108801973	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs555655676	chr11:108801993-108801994	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs111798845	chr11:108802004-108802005	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs374576080	chr11:108802008-108802009	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs148051710	chr11:108802009-108802010	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs187063784	chr11:108802046-108802047	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs555836189	chr11:108802073-108802074	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs78051681	chr11:108802087-108802088	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs545094349	chr11:108802127-108802128	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs10450617	chr11:108802143-108802144	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs113002790	chr11:108802246-108802247	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77190507	chr11:108802266-108802267	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530741172	chr11:108802309-108802310	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527501092	chr11:108802350-108802351	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568510475	chr11:108802359-108802360	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542544503	chr11:108802384-108802385	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs561197388	chr11:108802435-108802436	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145933152	chr11:108802477-108802478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs551037817	chr11:108802479-108802480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs117468257	chr11:108802484-108802485	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191881292	chr11:108802510-108802511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139832634	chr11:108802511-108802512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566917754	chr11:108802548-108802549	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs61912814	chr11:108802585-108802586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551400776	chr11:108802600-108802601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs368080287	chr11:108802649-108802650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555616997	chr11:108802675-108802676	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs567666129	chr11:108802728-108802729	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs17703817	chr11:108802737-108802738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs79493399	chr11:108802745-108802746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs370308523	chr11:108802888-108802889	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
2	chr11:108768000-108810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:108778200-108810600	Weak transcription	Ovary	ovary
4	chr11:108780600-108810600	Weak transcription	Pancreas	Pancrea
5	chr11:108781600-108810400	Weak transcription	GM12878-XiMat	blood
6	chr11:108783000-108810600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr11:108784400-108804000	Weak transcription	K562	blood
8	chr11:108785200-108807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:108786400-108810600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:108787000-108810800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:108787200-108815000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:108787400-108810600	Weak transcription	Liver	Liver
13	chr11:108788000-108802000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:108790200-108810600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:108791200-108810600	Weak transcription	Dnd41	blood
16	chr11:108791400-108810800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:108791600-108810800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:108792200-108804600	Weak transcription	Primary B cells from cord blood	blood
19	chr11:108792200-108808600	Weak transcription	Primary T cells from cord blood	blood
20	chr11:108794600-108807800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:108794600-108810000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:108794600-108810600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:108794600-108810600	Weak transcription	Aorta	Aorta
24	chr11:108794600-108811800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:108794800-108810600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:108797200-108811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:108797400-108816200	Weak transcription	Fetal Intestine Small	intestine
28	chr11:108797800-108805000	Weak transcription	Fetal Kidney	kidney
29	chr11:108797800-108805000	Enhancers	Osteobl	bone
30	chr11:108798200-108813000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:108798200-108814800	Weak transcription	Brain Anterior Caudate	brain
32	chr11:108798400-108811000	Weak transcription	Fetal Stomach	stomach
33	chr11:108798800-108811000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:108798800-108814600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:108799000-108804600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:108799000-108804600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:108799200-108802200	Enhancers	NHLF	lung
38	chr11:108799200-108812000	Weak transcription	Thymus	Thymus
39	chr11:108799400-108807800	Weak transcription	Fetal Thymus	thymus
40	chr11:108800000-108801600	Active TSS	A549	lung
41	chr11:108800000-108801800	Weak transcription	Hela-S3	cervix
42	chr11:108800000-108810600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:108800200-108801600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:108800200-108804000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:108800200-108810600	Weak transcription	HSMM	muscle
46	chr11:108800200-108811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:108800400-108801600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:108800400-108801600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:108800400-108807800	Weak transcription	Fetal Heart	heart
50	chr11:108800600-108801600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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