Variant report

Variant	nsv975968
Chromosome Location	chr11:93591410-93597199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93589131..93590724-chr11:93594379..93597024,2	K562	blood:
2	chr11:93584944..93588015-chr11:93589210..93592115,3	K562	blood:
3	chr11:93591127..93592924-chr11:93594968..93597943,2	K562	blood:
4	chr11:93595699..93598655-chr11:93614641..93616406,2	K562	blood:
5	chr11:93591127..93592924-chr11:93594968..93597943,2	K562	blood:

Extended variants
information (count: 243 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541531221	chr11:93591454-93591455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540225402	chr11:93591473-93591474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376241102	chr11:93591480-93591481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565277188	chr11:93591485-93591486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532719927	chr11:93591488-93591489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551239468	chr11:93591495-93591496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370242737	chr11:93591540-93591541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559293726	chr11:93591575-93591576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577230770	chr11:93591604-93591605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563088275	chr11:93591623-93591624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530288526	chr11:93591647-93591648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151313224	chr11:93591657-93591658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75269737	chr11:93591672-93591673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139336400	chr11:93591675-93591676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369011867	chr11:93591727-93591728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546325982	chr11:93591736-93591737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571201291	chr11:93591739-93591740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12361848	chr11:93591749-93591750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10831111	chr11:93591759-93591760	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535997424	chr11:93591777-93591778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10831112	chr11:93591791-93591792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573300368	chr11:93591804-93591805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10831113	chr11:93591818-93591819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10831114	chr11:93591852-93591853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577132744	chr11:93591898-93591899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533135822	chr11:93591899-93591900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544941461	chr11:93591902-93591903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587187	chr11:93591982-93591983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587216	chr11:93592003-93592004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368131382	chr11:93592005-93592006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560911754	chr11:93592007-93592008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150009871	chr11:93592069-93592070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs614474	chr11:93592084-93592085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs687072	chr11:93592093-93592094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530325197	chr11:93592098-93592099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374557971	chr11:93592108-93592109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145231536	chr11:93592139-93592140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560733166	chr11:93592149-93592150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs688796	chr11:93592176-93592177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs589946	chr11:93592181-93592182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs589957	chr11:93592188-93592189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528202395	chr11:93592207-93592208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546659620	chr11:93592222-93592223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571172600	chr11:93592232-93592233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529691034	chr11:93592253-93592254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141044136	chr11:93592254-93592255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117416631	chr11:93592265-93592266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550466918	chr11:93592324-93592325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141232351	chr11:93592325-93592326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536134157	chr11:93592355-93592356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93589600-93592800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:93589600-93593200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:93589600-93594600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:93589800-93593200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:93589800-93593800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:93589800-93595000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:93590000-93592000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:93590000-93592800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:93590200-93592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:93590200-93594000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:93590400-93591600	Enhancers	Fetal Brain Female	brain
12	chr11:93590400-93591800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:93590600-93591600	Enhancers	Stomach Mucosa	stomach
14	chr11:93590600-93591800	Enhancers	Aorta	Aorta
15	chr11:93590600-93591800	Enhancers	Fetal Muscle Leg	muscle
16	chr11:93590600-93592000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:93590600-93592000	Enhancers	Fetal Brain Male	brain
18	chr11:93591000-93592000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:93591200-93594800	Weak transcription	Osteobl	bone
20	chr11:93591600-93591800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:93591800-93592000	Enhancers	Brain Germinal Matrix	brain
22	chr11:93591800-93594600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:93592000-93592400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:93592000-93594800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:93592400-93593400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:93592800-93594200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:93593200-93593400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr11:93593200-93593400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:93593400-93593800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:93593400-93594200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:93593400-93594800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:93593800-93594400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:93593800-93595200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:93594000-93594400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:93594200-93594400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:93594200-93594400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:93594400-93594800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:93594600-93595600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:93594800-93595200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:93594800-93595200	Enhancers	NHDF-Ad	bronchial
41	chr11:93594800-93595400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:93594800-93595400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:93594800-93595600	Enhancers	K562	blood
44	chr11:93595000-93595200	Enhancers	Osteobl	bone
45	chr11:93595000-93595400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:93595000-93595400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr11:93595000-93595400	Enhancers	Dnd41	blood
48	chr11:93595400-93597200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:93595400-93603600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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