Variant report

Variant	nsv2611
Chromosome Location	chr2:12007152-12052170
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:1)
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	chr2:12004373..12006571-chr2:12008587..12010447,2	MCF-7	breast:
2	chr2:12047918..12050097-chr2:12107041..12109541,2	K562	blood:
3	chr2:12008707..12011170-chr2:12011267..12015363,3	K562	blood:
4	chr2:12013801..12015397-chr2:12017049..12018677,2	K562	blood:
5	chr2:12039120..12039620-chr22:39239786..39240369,2	MCF-7	breast:
6	chr2:12051322..12054441-chr2:12056924..12059934,3	K562	blood:
7	chr2:12013801..12015397-chr2:12017049..12018677,2	K562	blood:
8	chr2:12012584..12014369-chr2:12014479..12016672,2	K562	blood:
9	chr2:12008707..12011170-chr2:12011267..12015363,3	K562	blood:
10	chr2:12012584..12014369-chr2:12014479..12016672,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LPIN1-3	chr2:12016638-12016845	NONHSAT069208

No data

Variant related genes	Relation type
ENSG00000224184	chromatin interactions
ENSG00000221890	chromatin interactions

Extended variants
information (count: 1549 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1549 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532371114	chr2:12007176-12007177	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs141454717	chr2:12007177-12007178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189776854	chr2:12007203-12007204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs67774903	chr2:12007220-12007221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55851937	chr2:12007221-12007222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3037334	chr2:12007222-12007223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398104030	chr2:12007224-12007225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377724086	chr2:12007229-12007230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115925587	chr2:12007253-12007254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565150196	chr2:12007262-12007263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374264302	chr2:12007268-12007269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538400552	chr2:12007300-12007301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34900642	chr2:12007353-12007354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138502592	chr2:12007354-12007355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535758074	chr2:12007378-12007379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111377571	chr2:12007395-12007396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191883707	chr2:12007396-12007397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143987212	chr2:12007434-12007435	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs184367944	chr2:12007441-12007442	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs545838410	chr2:12007453-12007454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147335936	chr2:12007627-12007628	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189191790	chr2:12007712-12007713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs544370410	chr2:12007746-12007747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562512853	chr2:12007756-12007757	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs563301758	chr2:12007864-12007865	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34788627	chr2:12007900-12007901	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541713761	chr2:12007911-12007912	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181952277	chr2:12007957-12007958	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371520436	chr2:12008159-12008160	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs187323714	chr2:12008192-12008193	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139942592	chr2:12008223-12008224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189397488	chr2:12008257-12008258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546713893	chr2:12008264-12008265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs376480232	chr2:12008318-12008319	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs531279384	chr2:12008349-12008350	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566599401	chr2:12008393-12008394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs56249556	chr2:12008396-12008397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568520172	chr2:12008411-12008412	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs536048837	chr2:12008422-12008423	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs372491923	chr2:12008482-12008483	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181039785	chr2:12008514-12008515	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186544098	chr2:12008568-12008569	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138740942	chr2:12008611-12008612	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34819724	chr2:12008631-12008632	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569506809	chr2:12008690-12008691	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367802209	chr2:12008731-12008732	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571929950	chr2:12008738-12008739	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557755485	chr2:12008747-12008748	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149457850	chr2:12008765-12008766	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200199349	chr2:12008775-12008776	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12000200-12007800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12003200-12009600	Weak transcription	Right Atrium	heart
3	chr2:12004200-12012600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:12004400-12008200	Weak transcription	NHEK	skin
5	chr2:12004400-12012600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:12004400-12012800	Weak transcription	Esophagus	oesophagus
7	chr2:12004400-12012800	Weak transcription	Stomach Mucosa	stomach
8	chr2:12004400-12015400	Weak transcription	Gastric	stomach
9	chr2:12004600-12008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:12004600-12008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:12004600-12009600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:12004600-12010000	Weak transcription	Fetal Heart	heart
13	chr2:12004600-12012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:12004800-12007800	Weak transcription	HMEC	breast
15	chr2:12004800-12009200	Weak transcription	NH-A	brain
16	chr2:12004800-12010000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:12005000-12009600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:12005000-12009600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:12005000-12013600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:12005800-12007200	Flanking Active TSS	GM12878-XiMat	blood
21	chr2:12005800-12010800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:12006200-12007800	Enhancers	K562	blood
23	chr2:12006400-12008200	Weak transcription	Spleen	Spleen
24	chr2:12006400-12010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:12006800-12010800	Weak transcription	Primary B cells from cord blood	blood
26	chr2:12007000-12007600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:12007200-12007400	Enhancers	GM12878-XiMat	blood
28	chr2:12007400-12008000	Flanking Active TSS	GM12878-XiMat	blood
29	chr2:12007600-12012600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:12007800-12008200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:12007800-12008600	Enhancers	HMEC	breast
32	chr2:12007800-12008600	Flanking Active TSS	K562	blood
33	chr2:12008000-12008200	Active TSS	GM12878-XiMat	blood
34	chr2:12008000-12008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:12008200-12008400	Enhancers	Primary B cells from peripheral blood	blood
36	chr2:12008200-12008400	Enhancers	Spleen	Spleen
37	chr2:12008200-12008400	Flanking Active TSS	GM12878-XiMat	blood
38	chr2:12008200-12008600	Enhancers	NHEK	skin
39	chr2:12008400-12010200	Active TSS	GM12878-XiMat	blood
40	chr2:12008400-12010600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:12008600-12009600	Weak transcription	K562	blood
42	chr2:12009600-12009800	Enhancers	Right Atrium	heart
43	chr2:12009600-12010000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:12009600-12010400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:12009600-12011000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:12009600-12011200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:12009600-12011200	Enhancers	K562	blood
48	chr2:12009800-12010800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:12009800-12011000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:12009800-12011000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links