Variant report

Variant	esv3329592
Chromosome Location	chr11:106092791-106113345
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	chr11:106111158..106112968-chr11:106121606..106123242,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AASDHPPT-2	chr11:106105687-106105763	NONHSAT023976

Variant related genes	Relation type
ENSG00000254811	chromatin interactions

Extended variants
information (count: 286 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545094376	chr11:106093200-106093201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs559856894	chr11:106093201-106093202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs189931783	chr11:106093212-106093213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs548606498	chr11:106093245-106093246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181521301	chr11:106093252-106093253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560841423	chr11:106093289-106093290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185469075	chr11:106093325-106093326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs140531774	chr11:106093341-106093342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571119272	chr11:106093365-106093366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537742005	chr11:106093619-106093620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551977914	chr11:106093620-106093621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs117555395	chr11:106093631-106093632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs118181692	chr11:106093634-106093635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544747332	chr11:106093667-106093668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs200904721	chr11:106093710-106093711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs80171190	chr11:106093727-106093728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553817355	chr11:106093734-106093735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192389603	chr11:106093765-106093766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572089106	chr11:106093776-106093777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs183711497	chr11:106093801-106093802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112096952	chr11:106093950-106093951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542214533	chr11:106093972-106093973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117530055	chr11:106093984-106093985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs72989013	chr11:106094008-106094009	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188766989	chr11:106094024-106094025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs564904139	chr11:106094124-106094125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532312206	chr11:106094156-106094157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375867219	chr11:106094157-106094158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547311402	chr11:106094176-106094177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs566154246	chr11:106094190-106094191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369062655	chr11:106100806-106100807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs141026707	chr11:106100873-106100874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376151584	chr11:106100900-106100901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187766734	chr11:106100933-106100934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150329907	chr11:106100944-106100945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559913874	chr11:106100951-106100952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs34445887	chr11:106100987-106100988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs147583618	chr11:106101021-106101022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77359673	chr11:106101045-106101046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs192573542	chr11:106101099-106101100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73543557	chr11:106101101-106101102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552695736	chr11:106101102-106101103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570980607	chr11:106101132-106101133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs77756895	chr11:106101199-106101200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553437957	chr11:106101218-106101219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs12806470	chr11:106101219-106101220	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535841378	chr11:106101289-106101290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554147289	chr11:106101290-106101291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576247005	chr11:106101340-106101341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543368466	chr11:106101361-106101362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Renal cell carcinoma	18194544	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
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Melanoma	17363583	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106093200-106093400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:106093600-106094200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:106100800-106102200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:106102400-106102600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:106103800-106104000	Enhancers	GM12878-XiMat	blood
6	chr11:106104000-106104600	Weak transcription	GM12878-XiMat	blood
7	chr11:106104600-106106000	Enhancers	GM12878-XiMat	blood
8	chr11:106109000-106109600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:106109800-106110400	Enhancers	Fetal Intestine Large	intestine
10	chr11:106109800-106110400	Enhancers	Fetal Intestine Small	intestine
11	chr11:106112800-106113000	Enhancers	Ovary	ovary
12	chr11:106112800-106113200	Enhancers	Pancreas	Pancrea
13	chr11:106112800-106114000	Enhancers	Fetal Brain Male	brain
14	chr11:106112800-106114400	Enhancers	HSMMtube	muscle
15	chr11:106113000-106115000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:106113000-106120800	Weak transcription	Ovary	ovary
17	chr11:106113200-106133400	Weak transcription	Pancreas	Pancrea

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