Variant report

Variant	nsv515
Chromosome Location	chr11:119358258-119402867
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:36)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:118900110..118901741-chr11:119371227..119372995,2	MCF-7	breast:
2	chr11:119367569..119369775-chr11:119371504..119373804,2	K562	blood:
3	chr11:119367505..119370039-chr11:119404358..119405876,2	MCF-7	breast:
4	chr11:119400933..119403179-chr11:119405050..119407978,3	K562	blood:
5	chr11:119370568..119373070-chr11:119375931..119378638,2	MCF-7	breast:
6	chr11:119382501..119384406-chr11:119454171..119456496,2	K562	blood:
7	chr11:118954117..118956567-chr11:119362558..119364411,2	MCF-7	breast:
8	chr11:119362108..119363327-chr11:119404415..119405170,4	MCF-7	breast:
9	chr11:119368363..119370188-chr11:119375309..119377748,2	K562	blood:
10	chr11:119368363..119370188-chr11:119375309..119377748,2	K562	blood:
11	chr11:119362733..119364322-chr11:119367518..119370066,2	K562	blood:
12	chr11:119352713..119354484-chr11:119363085..119365615,2	K562	blood:
13	chr11:119247859..119250611-chr11:119367940..119370317,2	K562	blood:
14	chr11:119367569..119369775-chr11:119371504..119373804,2	K562	blood:
15	chr11:119370568..119373070-chr11:119375931..119378638,2	MCF-7	breast:
16	chr11:119373107..119376972-chr11:119379508..119382925,3	K562	blood:
17	chr11:119355935..119358841-chr11:119362745..119364526,2	K562	blood:
18	chr11:119389024..119390757-chr11:119393550..119395734,2	K562	blood:
19	chr11:119362733..119364322-chr11:119367518..119370066,2	K562	blood:
20	chr11:119353955..119356494-chr11:119359612..119362116,3	K562	blood:
21	chr11:119381448..119383386-chr11:119384620..119386912,2	K562	blood:
22	chr11:119381621..119384153-chr11:119388381..119390461,2	K562	blood:
23	chr11:119371118..119373114-chr11:119374717..119376631,2	K562	blood:
24	chr11:119361619..119363375-chr11:119404251..119405216,11	MCF-7	breast:
25	chr11:119355935..119358841-chr11:119362745..119364526,2	K562	blood:
26	chr11:119362139..119363168-chr11:119404231..119405012,3	K562	blood:
27	chr11:119371118..119373114-chr11:119374717..119376631,2	K562	blood:
28	chr11:119367442..119369349-chr11:119494053..119496718,2	K562	blood:
29	chr11:119381621..119384153-chr11:119388381..119390461,2	K562	blood:
30	chr11:118964686..118967059-chr11:119373256..119374804,2	MCF-7	breast:
31	chr11:118899935..118902641-chr11:119356876..119358839,2	MCF-7	breast:
32	chr11:119373107..119376972-chr11:119379508..119382925,3	K562	blood:
33	chr11:119381448..119383386-chr11:119384620..119386912,2	K562	blood:
34	chr11:119380556..119381122-chr11:119404546..119405414,2	MCF-7	breast:
35	chr11:119389024..119390757-chr11:119393550..119395734,2	K562	blood:
36	chr11:119349564..119353198-chr11:119356319..119358488,3	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-305N23.1.1-1	chr11:119369261-119369944	NR_034160
2	lnc-RP11-305N23.1.1-1	chr11:119393368-119393447	ENSG00000245248.3
3	lnc-THY1-3	chr11:119368596-119368638	l_553_chr11:119363873-119368638_testes
4	lnc-RP11-305N23.1.1-1	chr11:119369261-119371306	ENSG00000245248.3
5	lnc-RP11-305N23.1.1-1	chr11:119369261-119369944	ENSG00000245248.3
6	lnc-THY1-3	chr11:119363874-119364146	l_553_chr11:119363873-119368638_testes
7	lnc-THY1-3	chr11:119364510-119365375	l_553_chr11:119363873-119368638_testes
8	lnc-RP11-305N23.1.1-1	chr11:119392391-119392924	ENSG00000245248.3
9	lnc-RP11-305N23.1.1-1	chr11:119379825-119379936	ENSG00000245248.3
10	lnc-RP11-305N23.1.1-1	chr11:119394832-119395046	ENSG00000245248.3
11	lnc-RP11-305N23.1.1-1	chr11:119394488-119394582	ENSG00000245248.3
12	lnc-THY1-3	chr11:119370513-119370622	l_553_chr11:119363873-119368638_testes
13	lnc-RP11-305N23.1.1-1	chr11:119381020-119381191	ENSG00000245248.3
14	lnc-RP11-305N23.1.1-1	chr11:119397072-119397374	ENSG00000245248.3

No data

Variant related genes	Relation type
ENSG00000036672	chromatin interactions
ENSG00000256269	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000137700	chromatin interactions

Extended variants
information (count: 1727 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1727 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148163041	chr11:119358265-119358266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs199768326	chr11:119358267-119358268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552361864	chr11:119358324-119358325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556435123	chr11:119358407-119358408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534279	chr11:119358442-119358443	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534269259	chr11:119358467-119358468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376629439	chr11:119358490-119358491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558796683	chr11:119358509-119358510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577126307	chr11:119358516-119358517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537173493	chr11:119358537-119358538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181562038	chr11:119358538-119358539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556889728	chr11:119358559-119358560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113151514	chr11:119358571-119358572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574974753	chr11:119358572-119358573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542422009	chr11:119358627-119358628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573646245	chr11:119358685-119358686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12785238	chr11:119358692-119358693	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559338673	chr11:119358695-119358696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75865744	chr11:119358725-119358726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74785159	chr11:119358737-119358738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550201027	chr11:119358746-119358747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568794559	chr11:119358751-119358752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529965986	chr11:119358752-119358753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188897140	chr11:119358753-119358754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548097725	chr11:119358768-119358769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566622480	chr11:119358820-119358821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533754865	chr11:119358834-119358835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs625790	chr11:119358835-119358836	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373190356	chr11:119358908-119358909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78950832	chr11:119358909-119358910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75078233	chr11:119358918-119358919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556626027	chr11:119358965-119358966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181986624	chr11:119359056-119359057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140743698	chr11:119359094-119359095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79189975	chr11:119359100-119359101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572555338	chr11:119359101-119359102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs623989	chr11:119359257-119359258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564981690	chr11:119359276-119359277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187284928	chr11:119359374-119359375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554086815	chr11:119359442-119359443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs118132814	chr11:119359446-119359447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111284502	chr11:119359473-119359474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190870710	chr11:119359477-119359478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371978254	chr11:119359478-119359479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150114067	chr11:119359488-119359489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548038497	chr11:119359491-119359492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138419479	chr11:119359497-119359498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527474488	chr11:119359538-119359539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530889328	chr11:119359600-119359601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552124009	chr11:119359615-119359616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119337800-119359600	Weak transcription	Right Atrium	heart
2	chr11:119352600-119367000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:119355000-119359000	Weak transcription	Brain Germinal Matrix	brain
4	chr11:119356200-119359200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:119358200-119364000	Weak transcription	Spleen	Spleen
6	chr11:119359000-119359600	Enhancers	Brain Germinal Matrix	brain
7	chr11:119359200-119360400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:119359600-119361400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:119359800-119360000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr11:119360200-119360400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:119360400-119360800	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:119360400-119362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:119361400-119361800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr11:119361400-119362600	Enhancers	Brain Germinal Matrix	brain
15	chr11:119361800-119364200	Enhancers	Fetal Brain Male	brain
16	chr11:119362000-119363200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr11:119362000-119363400	Enhancers	Brain Hippocampus Middle	brain
18	chr11:119362000-119364200	Enhancers	Fetal Brain Female	brain
19	chr11:119362600-119363000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr11:119362600-119363200	Enhancers	Brain Angular Gyrus	brain
21	chr11:119362600-119363400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:119362600-119363400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:119362600-119363600	Enhancers	Brain Anterior Caudate	brain
24	chr11:119362600-119363600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:119362800-119363400	Enhancers	Brain Cingulate Gyrus	brain
26	chr11:119362800-119363400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:119362800-119363600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:119363000-119363200	Active TSS	Brain Germinal Matrix	brain
29	chr11:119363000-119363400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:119363200-119363400	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr11:119363400-119365000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:119363400-119367000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:119363400-119368000	Enhancers	Brain Germinal Matrix	brain
34	chr11:119363600-119365000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:119363600-119366800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:119364000-119364800	Enhancers	Spleen	Spleen
37	chr11:119365000-119365400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr11:119365000-119369400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:119365400-119371400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:119366600-119368000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:119366600-119368400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:119366800-119367000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr11:119366800-119367800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:119366800-119367800	Enhancers	NHDF-Ad	bronchial
45	chr11:119366800-119369600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr11:119366800-119369600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr11:119367000-119367600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:119367000-119368600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:119367000-119369400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:119367000-119369800	Enhancers	H9 Cell Line	embryonic stem cell

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