Variant report

Variant	nsv976486
Chromosome Location	chr11:34120346-34123238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:34123131-34123281	SH-SY5Y	brain:	n/a	n/a
2	MAFK	chr11:34122923-34123030	HepG2	liver:	n/a	n/a
3	PML	chr11:34122610-34123233	K562	blood:	n/a	n/a
4	POLR2A	chr11:34121357-34121381	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:34122856-34122888	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:34121832-34122032	K562	blood:	n/a	n/a
7	POLR2A	chr11:34121381-34121690	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:34121818-34121819	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:34121826-34121848	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:34121102-34121197	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:34122931-34123068	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:34120707-34120708	MCF-7	breast:	n/a	n/a
13	POLR2A	chr11:34122076-34122174	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:34122643-34122878	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:34122553-34123173	K562	blood:	n/a	n/a
16	POLR2A	chr11:34121796-34122514	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:34121349-34121485	ProgFib	skin:	n/a	n/a
18	POLR2A	chr11:34122897-34122935	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:34122598-34122620	MCF-7	breast:	n/a	n/a
20	POLR2A	chr11:34121807-34122528	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr11:34120926-34120934	MCF-7	breast:	n/a	n/a
22	POLR2A	chr11:34122568-34123167	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:34122889-34123095	GM12891	blood:	n/a	n/a
24	POLR2A	chr11:34122826-34122846	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:34121289-34121626	K562	blood:	n/a	n/a
26	POLR2A	chr11:34120906-34120938	ProgFib	skin:	n/a	n/a
27	POLR2A	chr11:34121701-34121797	MCF-7	breast:	n/a	n/a
28	POLR2A	chr11:34121688-34121692	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:34120953-34121057	MCF-7	breast:	n/a	n/a
30	POLR2A	chr11:34121383-34128525	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:34122700-34123130	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:34122683-34123058	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:34122855-34122859	K562	blood:	n/a	n/a
34	POLR2A	chr11:34122133-34123057	GM12892	blood:	n/a	n/a
35	POLR2A	chr11:34122698-34122863	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:34122219-34122399	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:34120487-34120571	K562	blood:	n/a	n/a
38	POLR2A	chr11:34122861-34122870	K562	blood:	n/a	n/a
39	POLR2A	chr11:34122735-34123125	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:34123174-34128281	K562	blood:	n/a	n/a
41	POLR2A	chr11:34121281-34121564	GM12891	blood:	n/a	n/a
42	POLR2A	chr11:34119916-34128220	K562	blood:	n/a	n/a
43	POLR2A	chr11:34121307-34121528	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:34121197-34121640	GM12892	blood:	n/a	n/a
45	POLR2A	chr11:34122049-34122131	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:34122161-34122190	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:34122678-34123103	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:34122797-34122822	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr11:34122341-34122392	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:34121904-34122229	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34108216..34109873-chr11:34119839..34122564,2	MCF-7	breast:
2	chr11:34087854..34090520-chr11:34118514..34121515,3	K562	blood:
3	chr11:34114413..34117654-chr11:34118153..34121682,3	MCF-7	breast:
4	chr11:34114333..34116140-chr11:34120205..34122994,2	K562	blood:
5	chr11:34082302..34084010-chr11:34118358..34121260,2	K562	blood:
6	chr11:34122891..34125542-chr11:34164047..34165563,2	K562	blood:
7	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
8	chr11:34072092..34074893-chr11:34120041..34121860,2	K562	blood:
9	chr11:34106541..34110325-chr11:34122744..34126295,3	K562	blood:
10	chr11:34072144..34074696-chr11:34123170..34125169,2	MCF-7	breast:
11	chr11:34123093..34125521-chr11:34130481..34132154,2	MCF-7	breast:

No data

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CAPRIN1	hsa-miR-1	chr11:34122599-34122620
2	CAPRIN1	hsa-miR-16-5p	chr11:34121912-34121919
3	CAPRIN1	hsa-miR-1	chr11:34122613-34122620
4	CAPRIN1	hsa-miR-21-5p	chr11:34120453-34120474
5	CAPRIN1	hsa-miR-16-5p	chr11:34121901-34121919
6	CAPRIN1	hsa-miR-222-3p	chr11:34120359-34120379
7	CAPRIN1	hsa-miR-16-5p	chr11:34122378-34122384
8	CAPRIN1	hsa-miR-16-5p	chr11:34122365-34122385

Variant related genes	Relation type
NAT10	TF binding region
ENSG00000135387	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149703424	chr11:34120373-34120374	Strong transcription Weak transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
2	rs111668693	chr11:34120408-34120409	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115829510	chr11:34120473-34120474	Strong transcription Weak transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
4	rs537456500	chr11:34120517-34120518	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552625826	chr11:34120526-34120527	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566063168	chr11:34120595-34120596	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549417907	chr11:34120648-34120649	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17700132	chr11:34120705-34120706	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs536436701	chr11:34120739-34120740	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577576547	chr11:34120746-34120747	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547621394	chr11:34120827-34120828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377086083	chr11:34120862-34120863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200525721	chr11:34120886-34120887	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375220671	chr11:34120974-34120975	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536545376	chr11:34121022-34121023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191894780	chr11:34121038-34121039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555176882	chr11:34121052-34121053	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575973278	chr11:34121063-34121064	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538268171	chr11:34121082-34121083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558594668	chr11:34121158-34121159	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145563168	chr11:34121189-34121190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182538694	chr11:34121192-34121193	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561139192	chr11:34121239-34121240	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534481064	chr11:34121292-34121293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574739461	chr11:34121303-34121304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61880386	chr11:34121349-34121350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563672893	chr11:34121352-34121353	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368694695	chr11:34121358-34121359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368964713	chr11:34121369-34121370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532504128	chr11:34121370-34121371	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552291734	chr11:34121410-34121411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114947458	chr11:34121461-34121462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141360049	chr11:34121463-34121464	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76454700	chr11:34121526-34121527	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559005721	chr11:34121530-34121531	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189744866	chr11:34121544-34121545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182204264	chr11:34121611-34121612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550063339	chr11:34121617-34121618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569876318	chr11:34121623-34121624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538584419	chr11:34121624-34121625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145287074	chr11:34121635-34121636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572050111	chr11:34121657-34121658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534410812	chr11:34121686-34121687	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114425809	chr11:34121693-34121694	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574676795	chr11:34121704-34121705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75292625	chr11:34121708-34121709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs151202936	chr11:34121729-34121730	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373001692	chr11:34121730-34121731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552033793	chr11:34121733-34121734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71644540	chr11:34121735-34121736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34079000-34126600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34083400-34126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:34083600-34124800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:34088600-34124600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:34088800-34124000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:34091000-34123400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:34091000-34123400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:34091200-34123600	Strong transcription	Dnd41	blood
9	chr11:34091600-34123800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:34091600-34124200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:34091800-34123400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:34091800-34124200	Strong transcription	Fetal Thymus	thymus
13	chr11:34091800-34124600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:34091800-34124800	Strong transcription	Fetal Intestine Large	intestine
15	chr11:34092600-34122200	Strong transcription	Fetal Brain Female	brain
16	chr11:34092600-34123000	Strong transcription	GM12878-XiMat	blood
17	chr11:34092600-34123400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:34092600-34124800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:34092600-34125000	Strong transcription	Liver	Liver
20	chr11:34093000-34122400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:34093200-34122400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:34093200-34123200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr11:34093200-34123400	Strong transcription	Placenta	Placenta
24	chr11:34093400-34122400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:34093400-34123000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr11:34093400-34124000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:34093600-34125000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:34094000-34124000	Strong transcription	Fetal Lung	lung
29	chr11:34096600-34124000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:34096800-34122400	Strong transcription	Primary T cells from cord blood	blood
31	chr11:34097000-34123400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:34097200-34123400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:34097200-34126200	Weak transcription	Stomach Mucosa	stomach
34	chr11:34097400-34123000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:34097600-34122400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:34097600-34122600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr11:34097600-34123200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:34098000-34124000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:34098000-34124000	Strong transcription	Osteobl	bone
40	chr11:34098000-34124600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:34098000-34125000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:34098000-34125000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:34098200-34124800	Strong transcription	HUVEC	blood vessel
44	chr11:34098200-34125400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:34098600-34123000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:34100000-34123000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr11:34100200-34122000	Strong transcription	Thymus	Thymus
48	chr11:34100200-34122200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr11:34100200-34122800	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:34100400-34122400	Strong transcription	Placenta Amnion	Placenta Amnion

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