Variant report

Variant	esv3425952
Chromosome Location	chr11:9691601-9694749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9686339..9687922-chr11:9688828..9691707,2	K562	blood:
2	chr11:9694330..9696170-chr11:9697340..9699086,2	MCF-7	breast:
3	chr11:9685513..9687876-chr11:9689839..9691729,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133789	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114867042	chr11:9691652-9691653	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571689511	chr11:9691654-9691655	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373535665	chr11:9691655-9691656	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571155995	chr11:9691678-9691679	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534515067	chr11:9691704-9691705	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533523167	chr11:9691710-9691711	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540166376	chr11:9691716-9691717	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12223505	chr11:9691765-9691766	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs568249041	chr11:9691836-9691837	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs572814715	chr11:9691859-9691860	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs541534449	chr11:9691865-9691866	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs7925716	chr11:9691867-9691868	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs575056109	chr11:9691895-9691896	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs543994748	chr11:9691900-9691901	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs200666208	chr11:9691930-9691931	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs188797107	chr11:9691978-9691979	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs145348384	chr11:9691985-9691986	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs540534778	chr11:9692007-9692008	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs556969706	chr11:9692015-9692016	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs576912023	chr11:9692026-9692027	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs191861724	chr11:9692027-9692028	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs545876660	chr11:9692029-9692030	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs528488992	chr11:9692043-9692044	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs369151175	chr11:9692078-9692079	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs567205221	chr11:9692104-9692105	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs548350852	chr11:9692115-9692116	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs568554535	chr11:9692134-9692135	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs536364479	chr11:9692138-9692139	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs73408298	chr11:9692148-9692149	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114696283	chr11:9692218-9692219	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572937271	chr11:9692261-9692262	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7483256	chr11:9692313-9692314	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376866573	chr11:9692323-9692324	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112138075	chr11:9692369-9692370	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141637009	chr11:9692376-9692377	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4347384	chr11:9692382-9692383	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535442523	chr11:9692425-9692426	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555109108	chr11:9692459-9692460	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184408116	chr11:9692539-9692540	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189118884	chr11:9692577-9692578	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138343450	chr11:9692595-9692596	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577435736	chr11:9692601-9692602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540108870	chr11:9692650-9692651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537095039	chr11:9692669-9692670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71476839	chr11:9692727-9692728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372098464	chr11:9692824-9692825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145241575	chr11:9692968-9692969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189418865	chr11:9692991-9692992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377725154	chr11:9693003-9693004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529211065	chr11:9693025-9693026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9686600-9696000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9686600-9702000	Weak transcription	Left Ventricle	heart
3	chr11:9686600-9702600	Weak transcription	Gastric	stomach
4	chr11:9686600-9704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:9686600-9709600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:9686600-9711200	Weak transcription	Esophagus	oesophagus
7	chr11:9686800-9696600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:9686800-9696800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:9686800-9710800	Weak transcription	Aorta	Aorta
10	chr11:9686800-9716400	Weak transcription	Ovary	ovary
11	chr11:9687000-9697200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:9687200-9694200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:9687200-9694400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:9687200-9694400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:9687200-9694400	Weak transcription	Osteobl	bone
16	chr11:9687200-9696600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:9687200-9696600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:9687200-9697200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:9687200-9702600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:9687200-9705000	Weak transcription	HSMM	muscle
21	chr11:9687200-9709400	Weak transcription	HSMMtube	muscle
22	chr11:9687200-9710200	Weak transcription	Hela-S3	cervix
23	chr11:9687400-9694200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:9687400-9694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:9687400-9694600	Weak transcription	NHLF	lung
26	chr11:9687400-9695800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:9687400-9696000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:9687400-9696000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:9687400-9697200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:9687400-9699000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:9687400-9699000	Weak transcription	NHEK	skin
32	chr11:9687400-9702600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:9687400-9709200	Weak transcription	HMEC	breast
34	chr11:9687400-9710800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:9687600-9699000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:9687600-9700200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:9687800-9695800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:9687800-9703200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:9687800-9708000	Weak transcription	Pancreas	Pancrea
40	chr11:9687800-9709000	Weak transcription	Adipose Nuclei	Adipose
41	chr11:9688000-9693800	Weak transcription	Fetal Intestine Small	intestine
42	chr11:9688000-9695800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:9688000-9696600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:9688000-9697200	Weak transcription	Brain Anterior Caudate	brain
45	chr11:9688000-9702400	Weak transcription	Fetal Stomach	stomach
46	chr11:9688200-9694200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:9688200-9710000	Weak transcription	A549	lung
48	chr11:9689000-9693800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:9689000-9694400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:9689000-9703000	Weak transcription	Fetal Intestine Large	intestine

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