Variant report

Variant	esv2566564
Chromosome Location	chr11:121397826-121399297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121394952..121397845-chr11:121402753..121405692,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78850840	chr11:121397833-121397834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34984204	chr11:121397906-121397907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397760136	chr11:121397917-121397918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371587942	chr11:121398055-121398056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529632482	chr11:121398062-121398063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547746256	chr11:121398073-121398074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566435377	chr11:121398092-121398093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202123420	chr11:121398163-121398164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs664238	chr11:121398193-121398194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188172628	chr11:121398223-121398224	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374780203	chr11:121398234-121398235	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570521606	chr11:121398259-121398260	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs34898405	chr11:121398291-121398292	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs537956447	chr11:121398313-121398314	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192898988	chr11:121398371-121398372	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577375642	chr11:121398429-121398430	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200358896	chr11:121398436-121398437	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs71486385	chr11:121398438-121398439	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12421319	chr11:121398510-121398511	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs666004	chr11:121398578-121398579	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs143391793	chr11:121398664-121398665	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs537981581	chr11:121398683-121398684	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs572797246	chr11:121398723-121398724	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546484782	chr11:121398739-121398740	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs139416336	chr11:121398748-121398749	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548549536	chr11:121398783-121398784	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs183807507	chr11:121398825-121398826	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189015888	chr11:121398856-121398857	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562030280	chr11:121398860-121398861	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191930842	chr11:121398903-121398904	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144143061	chr11:121398909-121398910	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs531145424	chr11:121398951-121398952	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs634544	chr11:121398965-121398966	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184819602	chr11:121398985-121398986	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373256898	chr11:121398986-121398987	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs146315678	chr11:121399020-121399021	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs117632900	chr11:121399059-121399060	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537642296	chr11:121399067-121399068	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549085244	chr11:121399085-121399086	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs116900248	chr11:121399095-121399096	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567087140	chr11:121399131-121399132	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs115645119	chr11:121399154-121399155	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs117999152	chr11:121399160-121399161	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540138314	chr11:121399161-121399162	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs558161228	chr11:121399183-121399184	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs11512476	chr11:121399277-121399278	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543641225	chr11:121399292-121399293	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121350000-121401400	Weak transcription	Fetal Brain Male	brain
2	chr11:121379400-121398000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:121383000-121398800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:121385600-121418200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:121391400-121437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:121392400-121414800	Weak transcription	Stomach Mucosa	stomach
7	chr11:121393400-121414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:121393600-121415400	Weak transcription	Colonic Mucosa	Colon
9	chr11:121395000-121403000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:121395000-121404000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:121395200-121403000	Weak transcription	Thymus	Thymus
12	chr11:121395200-121414000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:121395200-121414400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:121395200-121434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:121395400-121400200	Weak transcription	Small Intestine	intestine
16	chr11:121395400-121403000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:121395400-121404000	Weak transcription	Brain Angular Gyrus	brain
18	chr11:121395400-121404600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:121395400-121424600	Weak transcription	Gastric	stomach
20	chr11:121396200-121403000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:121396400-121405000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:121396400-121414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:121396600-121398800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:121396600-121398800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:121396600-121398800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:121396600-121399200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:121396600-121399400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:121396600-121399400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:121396600-121399400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:121396600-121399600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:121396600-121399600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:121396600-121400000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:121396600-121400000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:121396600-121400000	Weak transcription	Fetal Intestine Large	intestine
36	chr11:121396600-121400200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:121396600-121400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:121396600-121400800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:121396600-121400800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:121396600-121400800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:121396600-121401000	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:121396600-121402400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:121396600-121404600	Weak transcription	Brain Anterior Caudate	brain
44	chr11:121396600-121405400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:121396600-121405600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:121396600-121405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:121396600-121414200	Weak transcription	Pancreas	Pancrea
48	chr11:121396600-121437600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:121396800-121398800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:121396800-121398800	Weak transcription	Fetal Intestine Small	intestine

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