Variant report

Variant	nsv519411
Chromosome Location	chr11:84432047-84449507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:84435745..84436679-chr11:85301971..85302607,2	MCF-7	breast:
2	chr11:84269079..84271717-chr11:84447544..84450102,2	MCF-7	breast:
3	chr11:84433336..84434202-chr11:85301668..85302606,6	MCF-7	breast:

Extended variants
information (count: 428 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:428 , 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	rs1789175	chr11:84432047-84432048	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377700453	chr11:84432067-84432068	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs1789176	chr11:84432068-84432069	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147986391	chr11:84432116-84432117	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs539273892	chr11:84432126-84432127	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs570013158	chr11:84432141-84432142	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs185146806	chr11:84432155-84432156	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564686190	chr11:84432171-84432172	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs537380360	chr11:84432174-84432175	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs55798926	chr11:84432185-84432186	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79139217	chr11:84432203-84432204	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113671003	chr11:84432257-84432258	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370689747	chr11:84432258-84432259	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568417907	chr11:84432266-84432267	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370182517	chr11:84432288-84432289	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529209642	chr11:84432312-84432313	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549936733	chr11:84432317-84432318	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568984017	chr11:84432346-84432347	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539902143	chr11:84432375-84432376	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375308912	chr11:84432407-84432408	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs117447317	chr11:84432412-84432413	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs188466374	chr11:84432458-84432459	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs569522607	chr11:84432499-84432500	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs141622673	chr11:84432529-84432530	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs374212353	chr11:84432536-84432537	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs555593338	chr11:84432550-84432551	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs192219442	chr11:84432565-84432566	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs113461109	chr11:84432590-84432591	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs544196730	chr11:84432599-84432600	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs5793137	chr11:84432603-84432604	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538778164	chr11:84432604-84432605	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs1940076	chr11:84432656-84432657	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556171870	chr11:84432672-84432673	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs183947374	chr11:84432693-84432694	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79476239	chr11:84432712-84432713	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368096509	chr11:84432736-84432737	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560036860	chr11:84432818-84432819	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs78817480	chr11:84432834-84432835	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371981360	chr11:84432840-84432841	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540480019	chr11:84432859-84432860	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs188726663	chr11:84432882-84432883	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs529565268	chr11:84432888-84432889	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs180679747	chr11:84432897-84432898	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs114786488	chr11:84432957-84432958	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs548685788	chr11:84432965-84432966	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568896924	chr11:84432977-84432978	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs75565363	chr11:84433031-84433032	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533213356	chr11:84433071-84433072	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368114812	chr11:84433120-84433121	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs76414264	chr11:84433202-84433203	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84429800-84432200	Active TSS	Brain Hippocampus Middle	brain
2	chr11:84429800-84432600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:84430000-84432600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:84430400-84432600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr11:84430800-84432400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:84430800-84432400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:84430800-84432400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:84430800-84432600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:84430800-84432600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:84431000-84432400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:84431000-84432400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:84431000-84432400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:84431000-84432400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:84431000-84432400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:84431000-84432400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:84431000-84432400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:84431000-84432400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:84431000-84432400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:84431000-84432400	Active TSS	Colonic Mucosa	Colon
20	chr11:84431000-84432400	Active TSS	Psoas Muscle	Psoas
21	chr11:84431000-84432400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr11:84431000-84432400	Active TSS	Right Atrium	heart
23	chr11:84431000-84432600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:84431000-84432600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:84431000-84432600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:84431000-84432600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:84431000-84432600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:84431000-84432600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr11:84431000-84432800	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:84431000-84432800	Active TSS	Rectal Smooth Muscle	rectum
31	chr11:84431200-84432200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:84431200-84432200	Active TSS	Brain Germinal Matrix	brain
33	chr11:84431200-84432200	Bivalent/Poised TSS	A549	lung
34	chr11:84431200-84432400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr11:84431200-84432400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:84431200-84432400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:84431200-84432400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:84431200-84432400	Active TSS	Primary T cells from cord blood	blood
39	chr11:84431200-84432400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr11:84431200-84432400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
41	chr11:84431200-84432400	Active TSS	Aorta	Aorta
42	chr11:84431200-84432400	Active TSS	Duodenum Mucosa	Duodenum
43	chr11:84431200-84432400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr11:84431200-84432400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
45	chr11:84431200-84432400	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr11:84431200-84432600	Active TSS	Primary B cells from cord blood	blood
47	chr11:84431200-84432600	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr11:84431400-84432200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:84431400-84432200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:84431400-84432200	Active TSS	Brain Cingulate Gyrus	brain

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