Variant report

Variant	nsv555445
Chromosome Location	chr11:75069871-75075866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75067548..75069783-chr11:75074663..75077055,2	MCF-7	breast:
2	chr11:74992382..74994631-chr11:75070974..75072526,2	K562	blood:
3	chr11:75074475..75076955-chr11:75084896..75086435,2	MCF-7	breast:
4	chr11:75067230..75070089-chr11:75082011..75083842,2	MCF-7	breast:
5	chr11:75073760..75076326-chr11:75079019..75081067,2	K562	blood:
6	chr11:75059438..75065729-chr11:75070757..75077420,9	MCF-7	breast:
7	chr11:75071158..75073048-chr11:75082961..75084761,2	MCF-7	breast:
8	chr11:75061810..75065838-chr11:75066153..75069996,4	MCF-7	breast:
9	chr11:75065936..75068463-chr11:75068645..75070545,2	K562	blood:
10	chr11:75060264..75064517-chr11:75067052..75070249,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137486	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs677106	chr11:75069871-75069872	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540417703	chr11:75069878-75069879	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568718468	chr11:75069913-75069914	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560198830	chr11:75069921-75069922	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181295063	chr11:75069927-75069928	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527984686	chr11:75069933-75069934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547739046	chr11:75069951-75069952	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs676623	chr11:75069990-75069991	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185307089	chr11:75070009-75070010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190020919	chr11:75070011-75070012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150132186	chr11:75070028-75070029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183813861	chr11:75070060-75070061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187590148	chr11:75070090-75070091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537643993	chr11:75070122-75070123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78563899	chr11:75070198-75070199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192034665	chr11:75070244-75070245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574655596	chr11:75070340-75070341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539871296	chr11:75070344-75070345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183541817	chr11:75070362-75070363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577015323	chr11:75070423-75070424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545966708	chr11:75070427-75070428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562560900	chr11:75070464-75070465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187402158	chr11:75070495-75070496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542384178	chr11:75070526-75070527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540735852	chr11:75070533-75070534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562264001	chr11:75070535-75070536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543228090	chr11:75070538-75070539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543665062	chr11:75070539-75070540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547486175	chr11:75070540-75070541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564460677	chr11:75070552-75070553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373456850	chr11:75070601-75070602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549905155	chr11:75070670-75070671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12290249	chr11:75070738-75070739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191486451	chr11:75070778-75070779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12290287	chr11:75070786-75070787	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568281432	chr11:75070791-75070792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11824884	chr11:75070796-75070797	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553777258	chr11:75070820-75070821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531923742	chr11:75070921-75070922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539422682	chr11:75070922-75070923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556322444	chr11:75070960-75070961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373065036	chr11:75070966-75070967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576177095	chr11:75070975-75070976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559337584	chr11:75071023-75071024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141802727	chr11:75071030-75071031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182700037	chr11:75071126-75071127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375605900	chr11:75071170-75071171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199502950	chr11:75071174-75071175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs67783916	chr11:75071175-75071176	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192778676	chr11:75071232-75071233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75063600-75076800	Weak transcription	Hela-S3	cervix
2	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:75064600-75071800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:75066600-75076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:75067200-75076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:75068800-75080800	Weak transcription	Spleen	Spleen
7	chr11:75069000-75071800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:75069800-75070000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:75071600-75072200	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:75071800-75072000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:75071800-75072200	Enhancers	Primary B cells from cord blood	blood
12	chr11:75071800-75072200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr11:75071800-75072400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:75072200-75075800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:75072200-75076800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:75072200-75077000	Weak transcription	Primary B cells from cord blood	blood
17	chr11:75072400-75076000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:75075000-75075200	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:75075200-75076000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:75075800-75076000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:75075800-75076800	Enhancers	Monocytes-CD14+_RO01746	blood

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