Variant report

Variant	nsv1038232
Chromosome Location	chr11:119759344-119785065
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:23)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119769514..119772014-chr11:119776192..119777837,2	K562	blood:
2	chr11:119768971..119769563-chr11:119780728..119781328,2	MCF-7	breast:
3	chr11:119770243..119773277-chr11:119775684..119777431,3	K562	blood:
4	chr11:119768971..119769563-chr11:119780728..119781328,2	MCF-7	breast:
5	chr11:119780442..119780996-chr11:119791881..119792444,2	MCF-7	breast:
6	chr11:119757931..119760611-chr11:119769070..119771713,2	K562	blood:
7	chr11:119761258..119764589-chr11:119765739..119768852,3	MCF-7	breast:
8	chr11:119770243..119773277-chr11:119775684..119777431,3	K562	blood:
9	chr11:119776418..119778910-chr11:119779204..119783369,3	MCF-7	breast:
10	chr11:119772077..119772829-chr11:119780569..119781348,2	MCF-7	breast:
11	chr11:119763412..119765183-chr11:119776364..119779168,2	MCF-7	breast:
12	chr11:119674435..119677208-chr11:119764234..119766216,2	K562	blood:
13	chr11:119769514..119772014-chr11:119776192..119777837,2	K562	blood:
14	chr11:119761258..119764589-chr11:119765739..119768852,3	MCF-7	breast:
15	chr11:119757931..119760611-chr11:119769070..119771713,2	K562	blood:
16	chr11:119772077..119772829-chr11:119780569..119781348,2	MCF-7	breast:
17	chr11:119779711..119781214-chr11:119976355..119978913,2	MCF-7	breast:
18	chr11:119755019..119757410-chr11:119762615..119764941,2	K562	blood:
19	chr11:119772201..119772871-chr11:119780550..119781321,2	MCF-7	breast:
20	chr11:119776418..119778910-chr11:119779204..119783369,3	MCF-7	breast:
21	chr11:119772072..119774350-chr11:119798374..119800942,2	K562	blood:
22	chr11:119772201..119772871-chr11:119780550..119781321,2	MCF-7	breast:
23	chr11:119763412..119765183-chr11:119776364..119779168,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2523D13.1.1-4	chr11:119776057-119776431	NONHSAT024691
2	lnc-CTD-2523D13.1.1-4	chr11:119784003-119784117	NONHSAT024691
3	lnc-CTD-2523D13.1.1-4	chr11:119776058-119776431	XLOC_009301
4	lnc-CTD-2523D13.1.1-4	chr11:119784004-119784117	XLOC_009301
5	lnc-CTD-2523D13.1.1-4	chr11:119784004-119784405	XLOC_009301

No data

Variant related genes	Relation type
VAMP3	miRNA target sites
DCX	miRNA target sites

Extended variants
information (count: 1043 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17123428	chr11:119759344-119759345	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538479329	chr11:119759396-119759397	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs148199107	chr11:119759409-119759410	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs548636	chr11:119759466-119759467	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181798855	chr11:119759555-119759556	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs572380375	chr11:119759593-119759594	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs369083972	chr11:119759595-119759596	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564445071	chr11:119759600-119759601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs576822534	chr11:119759609-119759610	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs535419739	chr11:119759671-119759672	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs544087456	chr11:119759711-119759712	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs78437551	chr11:119759726-119759727	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs141132069	chr11:119759727-119759728	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs150325933	chr11:119759766-119759767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs554905781	chr11:119759851-119759852	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs546344973	chr11:119759894-119759895	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs560171883	chr11:119759907-119759908	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs527359685	chr11:119759929-119759930	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs186407936	chr11:119759930-119759931	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs551774135	chr11:119760023-119760024	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs190036157	chr11:119760039-119760040	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537753581	chr11:119760043-119760044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550044055	chr11:119760047-119760048	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376957773	chr11:119760069-119760070	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs180785484	chr11:119760098-119760099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373876646	chr11:119760110-119760111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186499829	chr11:119760112-119760113	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572592559	chr11:119760143-119760144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191292505	chr11:119760156-119760157	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs115222917	chr11:119760177-119760178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576457025	chr11:119760184-119760185	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs377067458	chr11:119760186-119760187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543802273	chr11:119760190-119760191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs562391430	chr11:119760205-119760206	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573157384	chr11:119760244-119760245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs137958425	chr11:119760259-119760260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs183534842	chr11:119760303-119760304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188482938	chr11:119760310-119760311	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551810843	chr11:119760325-119760326	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117596933	chr11:119760352-119760353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs531195911	chr11:119760353-119760354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540890602	chr11:119760361-119760362	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs190937664	chr11:119760393-119760394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs143521701	chr11:119760426-119760427	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183433930	chr11:119760441-119760442	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs559328848	chr11:119760476-119760477	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547584531	chr11:119760483-119760484	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs577493774	chr11:119760562-119760563	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs386758094	chr11:119760591-119760592	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs370817487	chr11:119760592-119760593	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119746000-119762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:119747200-119768200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:119747600-119762400	Weak transcription	Esophagus	oesophagus
4	chr11:119749600-119760000	Enhancers	Fetal Heart	heart
5	chr11:119755200-119760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:119757400-119760400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:119757600-119760000	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr11:119758400-119759600	Enhancers	Spleen	Spleen
9	chr11:119758400-119760000	Enhancers	Left Ventricle	heart
10	chr11:119758400-119760000	Enhancers	Right Atrium	heart
11	chr11:119758600-119759400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:119758600-119759800	Enhancers	Fetal Brain Male	brain
13	chr11:119758600-119761600	Enhancers	Right Ventricle	heart
14	chr11:119758800-119764000	Enhancers	Brain Hippocampus Middle	brain
15	chr11:119759200-119759400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr11:119759200-119759800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:119759200-119759800	Bivalent Enhancer	Fetal Stomach	stomach
18	chr11:119759200-119760200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:119759400-119763800	Enhancers	Brain Anterior Caudate	brain
20	chr11:119759800-119761800	Weak transcription	Fetal Brain Male	brain
21	chr11:119760000-119760800	Flanking Active TSS	Fetal Heart	heart
22	chr11:119760000-119760800	Weak transcription	Left Ventricle	heart
23	chr11:119760000-119762600	Weak transcription	Right Atrium	heart
24	chr11:119760000-119764200	Enhancers	Brain Substantia Nigra	brain
25	chr11:119760200-119760400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:119760200-119763000	Enhancers	Brain Angular Gyrus	brain
27	chr11:119760200-119764600	Enhancers	Brain Cingulate Gyrus	brain
28	chr11:119760400-119760800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:119760400-119760800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr11:119760400-119761600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:119760400-119761800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:119760400-119763800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:119760400-119764200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:119760600-119760800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr11:119760800-119761000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:119760800-119761600	Enhancers	Left Ventricle	heart
37	chr11:119760800-119764600	Enhancers	Fetal Heart	heart
38	chr11:119761200-119763000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:119761400-119761600	Bivalent Enhancer	Placenta	Placenta
40	chr11:119761400-119761800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:119761400-119762200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:119761400-119762400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:119761400-119763200	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr11:119761600-119762200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:119761600-119762400	Weak transcription	Left Ventricle	heart
46	chr11:119761600-119762600	Bivalent Enhancer	Fetal Stomach	stomach
47	chr11:119761600-119762800	Weak transcription	Right Ventricle	heart
48	chr11:119761600-119763400	Enhancers	Brain Germinal Matrix	brain
49	chr11:119761600-119763400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr11:119761600-119764000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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