Variant report

Variant	nsv556215
Chromosome Location	chr11:104328244-104366089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:
2	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:
3	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:

Extended variants
information (count: 1220 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1121555	chr11:104328244-104328245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190906651	chr11:104328317-104328318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540790158	chr11:104328318-104328319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553427908	chr11:104328363-104328364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554530344	chr11:104328385-104328386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7127515	chr11:104328404-104328405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545773690	chr11:104328409-104328410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1121556	chr11:104328419-104328420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148155432	chr11:104328468-104328469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368609328	chr11:104328487-104328488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575845332	chr11:104328549-104328550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78507081	chr11:104328604-104328605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561435032	chr11:104328607-104328608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142972075	chr11:104328634-104328635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547246625	chr11:104328639-104328640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112986349	chr11:104328671-104328672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10895691	chr11:104328679-104328680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111711516	chr11:104328716-104328717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112358959	chr11:104328717-104328718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552504047	chr11:104328759-104328760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569162855	chr11:104328776-104328777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537720363	chr11:104328793-104328794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548064155	chr11:104328795-104328796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568041290	chr11:104328803-104328804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533735122	chr11:104328825-104328826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553724264	chr11:104328891-104328892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576828224	chr11:104328902-104328903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539160987	chr11:104328922-104328923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183674633	chr11:104328931-104328932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111235137	chr11:104328972-104328973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562510078	chr11:104328987-104328988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541882812	chr11:104328990-104328991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561545851	chr11:104328999-104329000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74796790	chr11:104329098-104329099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376228249	chr11:104329110-104329111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540822667	chr11:104329112-104329113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367600238	chr11:104329153-104329154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560529777	chr11:104329183-104329184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61339041	chr11:104329214-104329215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532592172	chr11:104329218-104329219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561491829	chr11:104329233-104329234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531334692	chr11:104329236-104329237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76502620	chr11:104329271-104329272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77022477	chr11:104329279-104329280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527514672	chr11:104329339-104329340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189017441	chr11:104329345-104329346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376710710	chr11:104329350-104329351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114496913	chr11:104329354-104329355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192995163	chr11:104329366-104329367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142501538	chr11:104329371-104329372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
low-grade B-cell lymphoma tumor	18367492	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
Melanoma	17363583	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
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104323800-104334000	Weak transcription	Fetal Heart	heart
2	chr11:104324000-104328800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:104328800-104329000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:104332600-104333400	Enhancers	Psoas Muscle	Psoas
5	chr11:104332800-104333000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:104332800-104333200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:104333000-104333400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:104333000-104333800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:104333600-104333800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:104333800-104336200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:104334000-104334600	Enhancers	Fetal Heart	heart
12	chr11:104335000-104335800	Enhancers	Fetal Muscle Leg	muscle
13	chr11:104336200-104336600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:104336200-104336800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:104336600-104336800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:104336600-104337000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:104336600-104338200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:104336800-104338000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:104338000-104339600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:104338200-104338400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:104338200-104338600	Enhancers	Dnd41	blood
22	chr11:104338200-104338600	Enhancers	HSMMtube	muscle
23	chr11:104340400-104340800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:104342200-104342600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:104342200-104342600	Enhancers	NHEK	skin
26	chr11:104344800-104345000	Enhancers	Ovary	ovary
27	chr11:104345200-104346800	Weak transcription	Ovary	ovary
28	chr11:104345800-104346000	Enhancers	Stomach Mucosa	stomach
29	chr11:104346000-104346600	Weak transcription	Stomach Mucosa	stomach
30	chr11:104346600-104347200	Enhancers	Stomach Mucosa	stomach
31	chr11:104346800-104347200	Enhancers	Ovary	ovary
32	chr11:104347000-104347600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:104347200-104348400	Weak transcription	Stomach Mucosa	stomach
34	chr11:104347200-104357800	Weak transcription	Ovary	ovary
35	chr11:104348400-104348600	Enhancers	Stomach Mucosa	stomach
36	chr11:104348400-104349200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:104355600-104355800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:104355600-104357000	Enhancers	Fetal Lung	lung
39	chr11:104355600-104358400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:104356000-104356200	Enhancers	Brain Germinal Matrix	brain
41	chr11:104356400-104356800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:104356400-104357400	Weak transcription	Brain Germinal Matrix	brain
43	chr11:104356600-104358200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:104356800-104357200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:104357000-104357800	Weak transcription	Fetal Lung	lung
46	chr11:104357200-104358400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:104357200-104358400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:104357400-104358400	Enhancers	Brain Germinal Matrix	brain
49	chr11:104357600-104358000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:104357600-104359600	Enhancers	Fetal Heart	heart

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