Variant report

Variant	nsv438181
Chromosome Location	chr2:11020993-11021955
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11017361..11019495-chr2:11019645..11021642,2	K562	blood:
2	chr2:11021272..11023587-chr2:11030045..11031855,2	K562	blood:
3	chr2:11021400..11025709-chr2:11030144..11033378,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092687.4.1-1	chr2:11020216-11021099	FPKM1_group_15225_transcript_1
2	lnc-AC092687.4.1-1	chr2:11020216-11021099	NONHSAT069133
3	lnc-AC092687.4.1-1	chr2:11020690-11021002	FPKM1_group_15225_transcript_1

No data

Variant related genes	Relation type
ENSG00000271952	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1316765	chr2:11020993-11020994	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7604967	chr2:11020995-11020996	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs546733595	chr2:11021052-11021053	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs11436611	chr2:11021060-11021061	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs397872187	chr2:11021062-11021063	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs571335788	chr2:11021087-11021088	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs563548392	chr2:11021088-11021089	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs528899676	chr2:11021094-11021095	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs542218816	chr2:11021107-11021108	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368208195	chr2:11021169-11021170	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13022515	chr2:11021201-11021202	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs142621707	chr2:11021232-11021233	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190236120	chr2:11021266-11021267	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536149549	chr2:11021278-11021279	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113334983	chr2:11021279-11021280	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377136406	chr2:11021304-11021305	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573816771	chr2:11021315-11021316	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13401557	chr2:11021316-11021317	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs67751871	chr2:11021336-11021337	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551983832	chr2:11021417-11021418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540590260	chr2:11021442-11021443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs386643178	chr2:11021445-11021446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370159863	chr2:11021446-11021447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200859992	chr2:11021449-11021450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201840538	chr2:11021450-11021451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200467644	chr2:11021451-11021452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201573402	chr2:11021452-11021453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71863436	chr2:11021453-11021454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201745164	chr2:11021464-11021465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145011242	chr2:11021465-11021466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201748664	chr2:11021467-11021468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200076428	chr2:11021468-11021469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs59963625	chr2:11021470-11021471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544438793	chr2:11021530-11021531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562733545	chr2:11021535-11021536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530472146	chr2:11021560-11021561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542167834	chr2:11021568-11021569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs79776722	chr2:11021598-11021599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182413432	chr2:11021605-11021606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149005910	chr2:11021667-11021668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546597052	chr2:11021669-11021670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559440390	chr2:11021688-11021689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571398544	chr2:11021693-11021694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532234049	chr2:11021730-11021731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4669638	chr2:11021731-11021732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs187418515	chr2:11021742-11021743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536408819	chr2:11021787-11021788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554586171	chr2:11021805-11021806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4669639	chr2:11021849-11021850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs533961832	chr2:11021910-11021911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11011800-11023600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:11013200-11023800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:11015600-11023600	Weak transcription	Right Atrium	heart
4	chr2:11018000-11023000	Weak transcription	A549	lung
5	chr2:11018200-11023400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:11018200-11023600	Weak transcription	Fetal Thymus	thymus
7	chr2:11018400-11023800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:11018400-11034600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:11018600-11023200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:11018600-11023600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:11018800-11023200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:11018800-11023600	Weak transcription	Right Ventricle	heart
13	chr2:11018800-11024200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:11019000-11022600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:11019600-11022600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:11019600-11023200	Weak transcription	Left Ventricle	heart
17	chr2:11020000-11023200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:11020600-11021000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:11020600-11021000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:11020600-11021000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:11020600-11021200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:11020600-11021200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr2:11020600-11021800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:11020600-11021800	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:11020800-11021000	Bivalent Enhancer	HepG2	liver
26	chr2:11020800-11021200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:11020800-11021200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:11021000-11021200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:11021000-11023200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:11021000-11023400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:11021200-11021400	Active TSS	Duodenum Mucosa	Duodenum
32	chr2:11021200-11022600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:11021200-11023000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:11021200-11023800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:11021400-11023000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:11021800-11024200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:11021800-11024400	Enhancers	Cortex derived primary cultured neurospheres	brain

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