Variant report

Variant	nsv818861
Chromosome Location	chr11:102415859-102423890
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	chr11:102417325..102419542-chr11:102420843..102423691,2	K562	blood:
2	chr11:102417680..102419606-chr11:102428296..102430666,2	K562	blood:
3	chr11:102419758..102422007-chr11:102423103..102425933,2	MCF-7	breast:
4	chr11:102419758..102422007-chr11:102423103..102425933,2	MCF-7	breast:
5	chr11:102417325..102419542-chr11:102420843..102423691,2	K562	blood:
6	chr11:102416941..102419060-chr11:102421362..102423843,2	K562	blood:
7	chr11:102415138..102417867-chr11:102418004..102420468,2	K562	blood:
8	chr11:102415138..102417867-chr11:102418004..102420468,2	K562	blood:
9	chr11:102416941..102419060-chr11:102421362..102423843,2	K562	blood:

No data

Extended variants
information (count: 353 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs938595	chr11:102415859-102415860	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555591036	chr11:102415864-102415865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572495727	chr11:102415880-102415881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555746577	chr11:102415891-102415892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72982167	chr11:102415909-102415910	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188764702	chr11:102415991-102415992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58647841	chr11:102416004-102416005	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149224518	chr11:102416037-102416038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143318152	chr11:102416072-102416073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78798816	chr11:102416079-102416080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548922335	chr11:102416086-102416087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151302736	chr11:102416191-102416192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2187365	chr11:102416193-102416194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113867490	chr11:102416211-102416212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551189115	chr11:102416242-102416243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140772587	chr11:102416243-102416244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372940934	chr11:102416268-102416269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536813869	chr11:102416288-102416289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145896372	chr11:102416342-102416343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567503512	chr11:102416361-102416362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117981775	chr11:102416362-102416363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555730932	chr11:102416406-102416407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572479232	chr11:102416418-102416419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138644445	chr11:102416420-102416421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142678349	chr11:102416429-102416430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146936437	chr11:102416434-102416435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193294871	chr11:102416439-102416440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184352537	chr11:102416466-102416467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563838202	chr11:102416545-102416546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570341605	chr11:102416575-102416576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576886522	chr11:102416599-102416600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574265616	chr11:102416610-102416611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189154323	chr11:102416641-102416642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138061181	chr11:102416674-102416675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528205441	chr11:102416675-102416676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551074213	chr11:102416727-102416728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564606614	chr11:102416779-102416780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149538196	chr11:102416815-102416816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144026029	chr11:102416824-102416825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148677367	chr11:102416836-102416837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559458286	chr11:102416844-102416845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536528518	chr11:102416845-102416846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549146881	chr11:102416859-102416860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181137786	chr11:102416875-102416876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142020987	chr11:102416880-102416881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558288710	chr11:102416896-102416897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578115383	chr11:102416954-102416955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537682172	chr11:102417051-102417052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557526218	chr11:102417066-102417067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184105771	chr11:102417139-102417140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102413800-102417600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:102414800-102419600	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:102415400-102418800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:102415400-102419000	Enhancers	Primary B cells from cord blood	blood
5	chr11:102415400-102420200	Enhancers	GM12878-XiMat	blood
6	chr11:102415800-102416600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr11:102416000-102416200	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:102416000-102416400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:102416000-102416800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:102416200-102416400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:102416200-102417600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:102416400-102417800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:102416400-102429400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:102416600-102417400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:102416600-102417800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:102416600-102418800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:102416600-102422000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:102416800-102417000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:102416800-102417000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:102416800-102417200	Enhancers	Brain Hippocampus Middle	brain
21	chr11:102416800-102417400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:102416800-102434400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:102417000-102417400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:102417000-102417600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:102417200-102418000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:102417400-102420800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:102417400-102422800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:102417600-102418200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:102417600-102418400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:102417600-102418600	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:102417800-102418200	Enhancers	HSMM	muscle
32	chr11:102417800-102418200	Enhancers	Osteobl	bone
33	chr11:102417800-102418400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:102417800-102418800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:102417800-102419000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:102417800-102423600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:102418000-102418200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:102418200-102423000	Weak transcription	HSMM	muscle
39	chr11:102418200-102423000	Weak transcription	Osteobl	bone
40	chr11:102418200-102423800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:102418800-102421400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:102419400-102419600	Enhancers	Gastric	stomach
43	chr11:102419400-102419600	Enhancers	Lung	lung
44	chr11:102419600-102421800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:102419600-102422000	Weak transcription	Gastric	stomach
46	chr11:102419600-102429200	Weak transcription	Lung	lung
47	chr11:102420200-102421200	Weak transcription	GM12878-XiMat	blood
48	chr11:102420800-102422000	Enhancers	A549	lung
49	chr11:102420800-102424000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:102421000-102423600	Enhancers	Cortex derived primary cultured neurospheres	brain

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