Variant report

Variant	esv3463509
Chromosome Location	chr11:83850358-83856029
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	chr11:83853767..83856033-chr11:83857027..83859961,2	MCF-7	breast:

Extended variants
information (count: 199 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1945819	chr11:83850371-83850372	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200690683	chr11:83850403-83850404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528229878	chr11:83850439-83850440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534519618	chr11:83850494-83850495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568074249	chr11:83850495-83850496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78723335	chr11:83850526-83850527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147883064	chr11:83850559-83850560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568768182	chr11:83850601-83850602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71469626	chr11:83850610-83850611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188784741	chr11:83850744-83850745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77393731	chr11:83850746-83850747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535155604	chr11:83850787-83850788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181537280	chr11:83850819-83850820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186050640	chr11:83850858-83850859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553172721	chr11:83850924-83850925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529204284	chr11:83850950-83850951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550637011	chr11:83850972-83850973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574800362	chr11:83851009-83851010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141497995	chr11:83851045-83851046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111449501	chr11:83851093-83851094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563982369	chr11:83851120-83851121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575962825	chr11:83851138-83851139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71469627	chr11:83851228-83851229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374560381	chr11:83851265-83851266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145669353	chr11:83851273-83851274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532999850	chr11:83851286-83851287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577315981	chr11:83851331-83851332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367759026	chr11:83851341-83851342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368492127	chr11:83851365-83851366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113666112	chr11:83851426-83851427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117431177	chr11:83851462-83851463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190024440	chr11:83851476-83851477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556899712	chr11:83851508-83851509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377277069	chr11:83851550-83851551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181448027	chr11:83851573-83851574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71469628	chr11:83851579-83851580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368609185	chr11:83851641-83851642	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs60721825	chr11:83851651-83851652	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534766855	chr11:83851656-83851657	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533099918	chr11:83851658-83851659	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185841826	chr11:83851694-83851695	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs61897656	chr11:83851709-83851710	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375674670	chr11:83851747-83851748	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553449642	chr11:83851770-83851771	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs11604088	chr11:83851781-83851782	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535853205	chr11:83851805-83851806	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs199615668	chr11:83851846-83851847	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs369769421	chr11:83851856-83851857	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs191037377	chr11:83851881-83851882	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141068193	chr11:83851891-83851892	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83846600-83858200	Enhancers	Brain Hippocampus Middle	brain
2	chr11:83849000-83850400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:83849200-83851200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:83849400-83851200	Weak transcription	Brain Anterior Caudate	brain
5	chr11:83849400-83856400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:83849600-83851200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:83849600-83851400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:83849600-83851600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:83849800-83851400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:83850000-83850600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:83850200-83853600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:83850600-83851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:83850600-83851000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:83851000-83851400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:83851000-83852000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr11:83851000-83852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:83851200-83851800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:83851200-83852000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:83851200-83852600	Enhancers	Brain Anterior Caudate	brain
20	chr11:83851200-83852800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:83851400-83851600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:83851400-83851600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:83851400-83851600	Enhancers	Brain Cingulate Gyrus	brain
24	chr11:83851400-83851800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:83851400-83852000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:83851400-83852000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:83851400-83852200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:83851600-83852000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:83851600-83852000	Active TSS	Brain Cingulate Gyrus	brain
30	chr11:83851600-83852800	Enhancers	Brain Angular Gyrus	brain
31	chr11:83851600-83855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:83851600-83856000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:83851800-83855800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:83851800-83856800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:83852000-83853200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:83852000-83853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:83852000-83853400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:83852000-83853600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:83852000-83854600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:83852200-83853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:83852200-83853400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:83852600-83854800	Weak transcription	Brain Anterior Caudate	brain
43	chr11:83852800-83854600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:83852800-83855200	Weak transcription	Brain Angular Gyrus	brain
45	chr11:83853400-83853600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr11:83853400-83853800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:83853400-83853800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:83853400-83853800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr11:83853400-83853800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr11:83853400-83854000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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