Variant report

Variant	nsv1039469
Chromosome Location	chr11:25853822-25918864
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	chr11:25845519..25848193-chr11:25860791..25863329,2	MCF-7	breast:

Extended variants
information (count: 1067 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1067 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191958457	chr11:25860604-25860605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550431200	chr11:25860617-25860618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1372265	chr11:25860628-25860629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545667188	chr11:25860658-25860659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539373967	chr11:25860667-25860668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368872906	chr11:25860706-25860707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551200074	chr11:25860707-25860708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550642374	chr11:25860718-25860719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150097812	chr11:25860724-25860725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11028971	chr11:25860730-25860731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573486085	chr11:25860764-25860765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537763836	chr11:25860765-25860766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556394708	chr11:25860831-25860832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1372264	chr11:25860834-25860835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183277088	chr11:25860866-25860867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79125671	chr11:25860921-25860922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572617335	chr11:25860922-25860923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543119093	chr11:25860934-25860935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187832833	chr11:25860969-25860970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142114719	chr11:25866011-25866012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545020704	chr11:25866018-25866019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537728418	chr11:25866080-25866081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556554099	chr11:25866093-25866094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577923469	chr11:25866105-25866106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545540100	chr11:25866116-25866117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554260738	chr11:25866121-25866122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572684761	chr11:25866126-25866127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563368521	chr11:25866128-25866129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185052820	chr11:25866159-25866160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532057701	chr11:25866222-25866223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117092861	chr11:25866263-25866264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71478183	chr11:25866315-25866316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191086406	chr11:25866353-25866354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs984333	chr11:25866389-25866390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529081805	chr11:25866397-25866398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59520420	chr11:25866404-25866405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527381759	chr11:25866407-25866408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57571751	chr11:25866408-25866409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182303519	chr11:25866413-25866414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547575281	chr11:25866429-25866430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114469048	chr11:25866439-25866440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186925268	chr11:25866440-25866441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151158946	chr11:25866485-25866486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7948650	chr11:25866486-25866487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7935122	chr11:25866522-25866523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554197156	chr11:25866545-25866546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191700677	chr11:25866549-25866550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557869577	chr11:25866555-25866556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572615512	chr11:25866586-25866587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543120727	chr11:25866607-25866608	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25860600-25861000	Enhancers	Hela-S3	cervix
2	chr11:25866000-25866800	Enhancers	Brain Germinal Matrix	brain
3	chr11:25866400-25867000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:25870400-25871000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr11:25877800-25878800	Enhancers	HUVEC	blood vessel
6	chr11:25878800-25882400	Weak transcription	HUVEC	blood vessel
7	chr11:25879600-25879800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:25880000-25881200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:25880400-25883000	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:25881200-25882600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:25881200-25882800	Enhancers	Fetal Intestine Small	intestine
12	chr11:25881200-25883200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr11:25881400-25883400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:25882200-25883200	Enhancers	Fetal Brain Male	brain
15	chr11:25882200-25883200	Enhancers	Fetal Brain Female	brain
16	chr11:25882200-25883400	Enhancers	Fetal Lung	lung
17	chr11:25882200-25883800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr11:25882200-25883800	Enhancers	Fetal Heart	heart
19	chr11:25882400-25882800	Enhancers	Fetal Kidney	kidney
20	chr11:25882400-25883000	Enhancers	Colon Smooth Muscle	Colon
21	chr11:25882400-25883000	Enhancers	Rectal Smooth Muscle	rectum
22	chr11:25882400-25883000	Enhancers	HUVEC	blood vessel
23	chr11:25882400-25883200	Enhancers	Brain Germinal Matrix	brain
24	chr11:25882400-25883200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:25882400-25883800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:25882400-25884200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:25882600-25883000	Enhancers	Brain Hippocampus Middle	brain
28	chr11:25882600-25883000	Enhancers	Stomach Smooth Muscle	stomach
29	chr11:25882600-25883000	Enhancers	Hela-S3	cervix
30	chr11:25882600-25883200	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:25882800-25883200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:25883400-25885600	Weak transcription	Fetal Lung	lung
33	chr11:25885600-25886000	Enhancers	Fetal Lung	lung
34	chr11:25885800-25886200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:25885800-25886200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr11:25886200-25898200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:25895000-25895200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:25897200-25898400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:25897400-25898600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:25897600-25898400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:25897800-25898400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:25897800-25898400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:25897800-25898600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr11:25898000-25898200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:25898000-25898400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:25898000-25898400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr11:25898000-25898600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:25898200-25898600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:25898200-25898600	Enhancers	Gastric	stomach
50	chr11:25898400-25898600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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