Variant report

Variant	nsv468849
Chromosome Location	chr11:100713227-100733120
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:100721964..100724850-chr11:100725168..100727947,2	K562	blood:
2	chr11:100721964..100724850-chr11:100725168..100727947,2	K562	blood:
3	chr11:100659587..100661942-chr11:100730369..100732286,2	K562	blood:
4	chr11:100732938..100736079-chr11:100738276..100741715,4	K562	blood:
5	chr11:100447010..100447615-chr11:100725659..100726412,2	MCF-7	breast:
6	chr11:100731277..100733335-chr11:100735831..100738169,2	K562	blood:
7	chr11:100552875..100554819-chr11:100725127..100727226,2	MCF-7	breast:
8	chr11:100552709..100553658-chr11:100725879..100726865,3	MCF-7	breast:
9	chr11:100553151..100554077-chr11:100725981..100726890,2	MCF-7	breast:

No data

Extended variants
information (count: 725 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71475554	chr11:100713227-100713228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12809048	chr11:100713229-100713230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147107531	chr11:100713232-100713233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116188557	chr11:100713236-100713237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555560588	chr11:100713315-100713316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572114346	chr11:100713338-100713339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541206984	chr11:100713393-100713394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368879732	chr11:100713407-100713408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557797447	chr11:100713417-100713418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552810130	chr11:100713433-100713434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554976705	chr11:100713434-100713435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527955750	chr11:100713550-100713551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559097182	chr11:100713551-100713552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577869223	chr11:100713553-100713554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543486824	chr11:100713554-100713555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12269952	chr11:100713621-100713622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544222476	chr11:100713625-100713626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77277094	chr11:100713643-100713644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542708413	chr11:100713684-100713685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560082594	chr11:100713725-100713726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562418874	chr11:100713729-100713730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143948609	chr11:100713780-100713781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs524242	chr11:100713853-100713854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12792417	chr11:100713857-100713858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369987627	chr11:100713863-100713864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563258247	chr11:100713916-100713917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112802324	chr11:100713960-100713961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117008781	chr11:100714024-100714025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531069741	chr11:100714062-100714063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545754052	chr11:100714067-100714068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550565001	chr11:100714074-100714075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373926390	chr11:100714111-100714112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567295588	chr11:100714163-100714164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527132	chr11:100714178-100714179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546814382	chr11:100714188-100714189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147392464	chr11:100714233-100714234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138915270	chr11:100714258-100714259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534563376	chr11:100714357-100714358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557926455	chr11:100714363-100714364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192728338	chr11:100714426-100714427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537311288	chr11:100714475-100714476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200057368	chr11:100714496-100714497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4754704	chr11:100714506-100714507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542584864	chr11:100714552-100714553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546450917	chr11:100714562-100714563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184693118	chr11:100714580-100714581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143970460	chr11:100714624-100714625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563261678	chr11:100714670-100714671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545282242	chr11:100714688-100714689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565431522	chr11:100714725-100714726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Cancer	22183965	CNVD
Melanoma	22183965	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
Myelofibrosis	22110671	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
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100699600-100722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:100701600-100717000	Weak transcription	Fetal Kidney	kidney
3	chr11:100703000-100731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:100704600-100719600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:100709000-100715000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:100711000-100719200	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:100712000-100715600	Enhancers	Liver	Liver
8	chr11:100712200-100716400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:100712800-100713400	Enhancers	Hela-S3	cervix
10	chr11:100712800-100718200	Weak transcription	Stomach Mucosa	stomach
11	chr11:100713000-100713400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:100713200-100718800	Weak transcription	A549	lung
13	chr11:100713400-100722000	Weak transcription	Hela-S3	cervix
14	chr11:100715600-100718000	Weak transcription	Liver	Liver
15	chr11:100716400-100716600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:100716600-100716800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr11:100716600-100716800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:100716800-100719600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:100716800-100727000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:100717000-100717400	ZNF genes & repeats	Fetal Kidney	kidney
21	chr11:100717400-100719600	Weak transcription	Fetal Kidney	kidney
22	chr11:100717600-100717800	Enhancers	Placenta	Placenta
23	chr11:100717600-100722800	Enhancers	Fetal Heart	heart
24	chr11:100717800-100720000	Weak transcription	Psoas Muscle	Psoas
25	chr11:100717800-100721600	Weak transcription	Placenta	Placenta
26	chr11:100718000-100719400	Enhancers	Liver	Liver
27	chr11:100718200-100720400	Enhancers	Fetal Lung	lung
28	chr11:100718200-100721000	Enhancers	Stomach Mucosa	stomach
29	chr11:100718400-100718600	Enhancers	Fetal Intestine Large	intestine
30	chr11:100718400-100719000	Enhancers	Fetal Intestine Small	intestine
31	chr11:100718600-100719600	Weak transcription	Fetal Intestine Large	intestine
32	chr11:100718800-100719000	Enhancers	A549	lung
33	chr11:100719000-100719400	Weak transcription	Fetal Intestine Small	intestine
34	chr11:100719000-100719800	Weak transcription	A549	lung
35	chr11:100719000-100721200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:100719000-100722600	Enhancers	NHDF-Ad	bronchial
37	chr11:100719200-100719400	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:100719200-100720200	Enhancers	Fetal Muscle Leg	muscle
39	chr11:100719400-100720000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:100719400-100720600	Flanking Active TSS	Liver	Liver
41	chr11:100719400-100721000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:100719400-100721000	Enhancers	Fetal Intestine Small	intestine
43	chr11:100719400-100721600	Enhancers	Fetal Stomach	stomach
44	chr11:100719400-100722200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:100719400-100722800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:100719600-100719800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:100719600-100719800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:100719600-100720200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr11:100719600-100720200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:100719600-100720200	Enhancers	Fetal Kidney	kidney

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