Variant report

Variant	nsv897109
Chromosome Location	chr11:24934662-25115305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:24996714..24999047-chr11:25009138..25011539,2	K562	blood:
2	chr11:24996714..24999047-chr11:25009138..25011539,2	K562	blood:
3	chr11:24946469..24947067-chr5:172264421..172265010,2	MCF-7	breast:
4	chr11:25033492..25034324-chr14:24994179..24994819,2	MCF-7	breast:
5	chr11:24963255..24966039-chr11:24972736..24975455,2	MCF-7	breast:
6	chr11:22849480..22851377-chr11:25062549..25065391,2	K562	blood:
7	chr11:24963255..24966039-chr11:24972736..24975455,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198168	chromatin interactions
ENSG00000246225	chromatin interactions

Extended variants
information (count: 1286 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1286 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181700311	chr11:24953703-24953704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555383935	chr11:24953707-24953708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186818480	chr11:24953720-24953721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541047364	chr11:24953740-24953741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141935852	chr11:24953771-24953772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150860941	chr11:24953835-24953836	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7930756	chr11:24953850-24953851	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560775681	chr11:24953884-24953885	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546035866	chr11:24953912-24953913	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563147034	chr11:24953918-24953919	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372878078	chr11:24953944-24953945	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190516394	chr11:24953957-24953958	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79162323	chr11:24953967-24953968	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561726744	chr11:24953986-24953987	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7933511	chr11:24954019-24954020	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547395429	chr11:24954039-24954040	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79598971	chr11:24954048-24954049	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533304577	chr11:24954075-24954076	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs570979511	chr11:24954131-24954132	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549700534	chr11:24954140-24954141	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182434590	chr11:24954158-24954159	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs138210310	chr11:24954160-24954161	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555471777	chr11:24954166-24954167	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs185534078	chr11:24954170-24954171	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534560965	chr11:24954206-24954207	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs189651869	chr11:24954212-24954213	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577467421	chr11:24954217-24954218	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs386751731	chr11:24954248-24954249	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs540166842	chr11:24954290-24954291	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs115763791	chr11:24954323-24954324	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576605670	chr11:24954331-24954332	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs542041318	chr11:24954349-24954350	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs149310744	chr11:24954359-24954360	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557721034	chr11:24954367-24954368	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368121021	chr11:24954378-24954379	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572210030	chr11:24954388-24954389	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541022477	chr11:24954413-24954414	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs116186557	chr11:24954424-24954425	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34945463	chr11:24954437-24954438	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs569009931	chr11:24954453-24954454	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11028286	chr11:24954517-24954518	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533058399	chr11:24954522-24954523	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs536598247	chr11:24954540-24954541	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs115072116	chr11:24954570-24954571	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575222533	chr11:24954608-24954609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563454250	chr11:24954615-24954616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529062467	chr11:24954647-24954648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549211278	chr11:24954655-24954656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115811944	chr11:24954706-24954707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534759472	chr11:24954747-24954748	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24953600-24953800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:24953600-24953800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:24953600-24953800	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr11:24953600-24954000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:24953800-24954400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:24953800-24954400	Enhancers	NHEK	skin
7	chr11:24953800-24954600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:24953800-24954600	Enhancers	Esophagus	oesophagus
9	chr11:24953800-24954600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr11:24953800-24954600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr11:24954000-24954400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr11:24954200-24954400	Enhancers	Colonic Mucosa	Colon
13	chr11:24954200-24954800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:24954400-24954600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr11:24954400-24954800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:24954600-24954800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:24954600-24954800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:24956400-24956800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:24956400-24957000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:24956600-24956800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:24956600-24957400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr11:24957600-24958400	Enhancers	Fetal Intestine Large	intestine
23	chr11:24958000-24958400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:24966200-24966800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:24974000-24975400	Enhancers	Brain Germinal Matrix	brain
26	chr11:24978000-24978400	Enhancers	HUVEC	blood vessel
27	chr11:24985600-24985800	Enhancers	Hela-S3	cervix
28	chr11:24986200-24987200	Weak transcription	Hela-S3	cervix
29	chr11:24987200-24987800	Enhancers	Hela-S3	cervix
30	chr11:24987400-24987800	Enhancers	Dnd41	blood
31	chr11:24990200-24990800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:24990800-24991800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:24991800-24992000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:25001600-25002800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:25001600-25003200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:25001600-25003200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:25002000-25002800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:25002200-25002800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:25002200-25002800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:25002200-25003000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr11:25002200-25003000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr11:25002400-25002800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr11:25002400-25003400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:25002800-25004400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:25002800-25004400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:25002800-25004600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:25003000-25004400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:25003200-25004600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:25003200-25004600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:25003400-25003800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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