Variant report

Variant	nsv556287
Chromosome Location	chr11:107231605-107242988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107240491..107241393-chr16:2244600..2245300,2	MCF-7	breast:
2	chr11:107237489..107239255-chr11:107241546..107243344,2	K562	blood:
3	chr11:107241951..107244732-chr11:107327122..107328857,2	K562	blood:
4	chr11:107237489..107239255-chr11:107241546..107243344,2	K562	blood:

Variant related genes	Relation type
ENSG00000152404	chromatin interactions

Extended variants
information (count: 401 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11212182	chr11:107231605-107231606	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140314769	chr11:107231620-107231621	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373983128	chr11:107231644-107231645	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145788955	chr11:107231666-107231667	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190291682	chr11:107231674-107231675	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11822808	chr11:107231713-107231714	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549962575	chr11:107231714-107231715	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545989113	chr11:107231725-107231726	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138424744	chr11:107231748-107231749	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112282300	chr11:107231758-107231759	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573048466	chr11:107231771-107231772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74454250	chr11:107231774-107231775	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561755186	chr11:107231776-107231777	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141975340	chr11:107231790-107231791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543921673	chr11:107231842-107231843	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367676566	chr11:107231868-107231869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534536631	chr11:107231897-107231898	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562209426	chr11:107231910-107231911	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7124763	chr11:107231923-107231924	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538625677	chr11:107231936-107231937	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551903868	chr11:107231945-107231946	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555032	chr11:107231946-107231947	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528030875	chr11:107231948-107231949	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370345518	chr11:107231956-107231957	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373822595	chr11:107231959-107231960	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182584816	chr11:107231976-107231977	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185907162	chr11:107231980-107231981	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552629530	chr11:107231987-107231988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556713835	chr11:107232033-107232034	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12285417	chr11:107232034-107232035	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566358538	chr11:107232048-107232049	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112190638	chr11:107232053-107232054	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555845542	chr11:107232123-107232124	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557981274	chr11:107232136-107232137	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575232448	chr11:107232142-107232143	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368662392	chr11:107232149-107232150	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535381179	chr11:107232151-107232152	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375319318	chr11:107232174-107232175	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555197821	chr11:107232192-107232193	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79396853	chr11:107232203-107232204	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138964157	chr11:107232233-107232234	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181083497	chr11:107232240-107232241	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537659436	chr11:107232266-107232267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577323979	chr11:107232268-107232269	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562245185	chr11:107232279-107232280	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185571757	chr11:107232281-107232282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190374283	chr11:107232287-107232288	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78965813	chr11:107232307-107232308	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556749041	chr11:107232308-107232309	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34661012	chr11:107232338-107232339	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:94)

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
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
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107180000-107233200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:107183400-107234400	Weak transcription	HSMMtube	muscle
3	chr11:107192200-107232200	Weak transcription	Esophagus	oesophagus
4	chr11:107193800-107237200	Weak transcription	Gastric	stomach
5	chr11:107194600-107235600	Weak transcription	Aorta	Aorta
6	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:107195200-107233000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:107198200-107233200	Weak transcription	Placenta	Placenta
9	chr11:107198200-107240800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:107205600-107234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:107214200-107232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:107215800-107233000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:107215800-107240800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:107219800-107232600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:107219800-107234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:107219800-107256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:107220000-107234000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:107220600-107232000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:107221800-107232600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:107221800-107232800	Weak transcription	Left Ventricle	heart
21	chr11:107221800-107258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:107222000-107240200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:107222600-107232600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:107223000-107253000	Weak transcription	Liver	Liver
25	chr11:107223000-107253600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:107223000-107256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:107223000-107260600	Weak transcription	Brain Anterior Caudate	brain
28	chr11:107223000-107260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:107223200-107234200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:107223200-107234800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:107223600-107232200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:107223800-107234400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:107224000-107258400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:107224400-107233600	Weak transcription	Dnd41	blood
35	chr11:107224600-107249600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:107224600-107253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:107225800-107250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:107225800-107256400	Weak transcription	Adipose Nuclei	Adipose
39	chr11:107227200-107239000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:107228200-107241000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:107229600-107232600	Strong transcription	Primary B cells from cord blood	blood
42	chr11:107229800-107232800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:107230000-107253400	Weak transcription	Lung	lung
44	chr11:107230200-107261400	Weak transcription	Ovary	ovary
45	chr11:107230800-107233600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:107231400-107232200	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr11:107231400-107232400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:107231600-107232400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:107231800-107232000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr11:107232000-107232200	Enhancers	H9 Cell Line	embryonic stem cell

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