Variant report

Variant	nsv459987
Chromosome Location	chr2:186790478-186860130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:186835223-186835544	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:186855637-186856004	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:186853506-186853842	HepG2	liver:	n/a	n/a
4	BACH1	chr2:186855743-186855846	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr2:186836912-186837170	K562	blood:	n/a	n/a
6	CCNT2	chr2:186798987-186799212	K562	blood:	n/a	n/a
7	CEBPB	chr2:186812025-186812311	HepG2	liver:	n/a	chr2:186812055-186812066
8	CEBPB	chr2:186819116-186819567	Hela-S3	cervix:	n/a	chr2:186819279-186819290
9	CEBPB	chr2:186819161-186819361	K562	blood:	n/a	chr2:186819279-186819290
10	CEBPB	chr2:186853669-186853919	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:186819132-186819491	HepG2	liver:	n/a	chr2:186819279-186819290
12	CEBPB	chr2:186819149-186819471	A549	lung:	n/a	chr2:186819279-186819290
13	CEBPB	chr2:186828874-186829177	A549	lung:	n/a	chr2:186829026-186829037
14	CEBPB	chr2:186828894-186829050	K562	blood:	n/a	chr2:186829026-186829037
15	CEBPB	chr2:186799069-186799271	HepG2	liver:	n/a	chr2:186799116-186799125 chr2:186799114-186799125 chr2:186799116-186799127
16	CEBPB	chr2:186843810-186844163	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr2:186828867-186829198	HepG2	liver:	n/a	chr2:186829026-186829037
18	CEBPB	chr2:186816833-186817243	Hela-S3	cervix:	n/a	chr2:186817033-186817046
19	CTCF	chr2:186819912-186819991	GM10248	blood:	n/a	n/a
20	CTCF	chr2:186820040-186820190	RPTEC	kidney:	n/a	n/a
21	CTCF	chr2:186844661-186844711	GM12892	blood:	n/a	n/a
22	CTCF	chr2:186819840-186819990	HMF	breast:	n/a	n/a
23	CTCF	chr2:186844629-186844726	GM12878	blood:	n/a	n/a
24	CTCF	chr2:186844600-186844750	BE2_C	brain:	n/a	n/a
25	CTCF	chr2:186844600-186844750	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr2:186844620-186844770	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:186819889-186819994	HepG2	liver:	n/a	n/a
28	CTCF	chr2:186819934-186819989	GM10266	blood:	n/a	n/a
29	CTCF	chr2:186819865-186820007	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr2:186844660-186844810	SAEC	small airway:	n/a	n/a
31	CTCF	chr2:186819932-186820018	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr2:186835105-186835226	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr2:186819878-186820041	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr2:186844606-186844734	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr2:186844660-186844810	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr2:186819700-186819850	HMEC	breast:	n/a	n/a
37	CTCF	chr2:186844600-186844750	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr2:186844670-186844693	LNCaP	prostate:	n/a	n/a
39	CTCF	chr2:186844600-186844750	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr2:186844568-186844788	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr2:186802730-186802774	GM20000	blood:	n/a	n/a
42	CTCF	chr2:186844640-186844790	RPTEC	kidney:	n/a	n/a
43	CTCF	chr2:186819960-186820110	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:186844620-186844718	GM19238	blood:	n/a	n/a
45	CTCF	chr2:186844620-186844770	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr2:186844513-186844863	GM12878	blood:	n/a	n/a
47	CTCF	chr2:186844660-186844810	HMEC	breast:	n/a	n/a
48	CTCF	chr2:186844580-186844730	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr2:186844570-186844775	HepG2	liver:	n/a	n/a
50	CTCF	chr2:186819920-186820070	HMEC	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
2	chr2:186844422..186846233-chr2:187042627..187045441,2	K562	blood:
3	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:
4	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:
5	chr2:186807275..186808106-chr7:110453455..110454048,2	HCT-116	colon:
6	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
7	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-13	chr2:186799635-186800049	NONHSAT075976
2	lnc-ZSWIM2-12	chr2:186800286-186800551	NONHSAT075977
3	lnc-ZSWIM2-4	chr2:186815194-186815488	XLOC_002427
4	lnc-ZSWIM2-4	chr2:186817485-186817647	XLOC_002427
5	lnc-ZSWIM2-11	chr2:186821314-186821790	NONHSAT075979

No data

Variant related genes	Relation type
RPL21P32	TF binding region

Extended variants
information (count: 2492 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:2492 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2046592	chr2:186790478-186790479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182506564	chr2:186790483-186790484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372497868	chr2:186790512-186790513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538813334	chr2:186790553-186790554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554340561	chr2:186790569-186790570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572491865	chr2:186790596-186790597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529183238	chr2:186790742-186790743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186208937	chr2:186790767-186790768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561335203	chr2:186790783-186790784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576315959	chr2:186790817-186790818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547265438	chr2:186790907-186790908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117039526	chr2:186790959-186790960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141985254	chr2:186790976-186790977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532597949	chr2:186791009-186791010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199520296	chr2:186791017-186791018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200724254	chr2:186791018-186791019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541213826	chr2:186791052-186791053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559859549	chr2:186791093-186791094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372216745	chr2:186791120-186791121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116491786	chr2:186791127-186791128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13009116	chr2:186791140-186791141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567264215	chr2:186791149-186791150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145874543	chr2:186791228-186791229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138501022	chr2:186791239-186791240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550126211	chr2:186791244-186791245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189881680	chr2:186791295-186791296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182202174	chr2:186791347-186791348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554003558	chr2:186791382-186791383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565688180	chr2:186791386-186791387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551861153	chr2:186791404-186791405	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs117651729	chr2:186791440-186791441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554730612	chr2:186791445-186791446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs13394111	chr2:186791464-186791465	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570004996	chr2:186791508-186791509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186474161	chr2:186791514-186791515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537534229	chr2:186791550-186791551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577114644	chr2:186791556-186791557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541273871	chr2:186791570-186791571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369074181	chr2:186791584-186791585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539488030	chr2:186791592-186791593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373278495	chr2:186791739-186791740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191463762	chr2:186791751-186791752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542723866	chr2:186791765-186791766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373409795	chr2:186791816-186791817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560798388	chr2:186791819-186791820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556032674	chr2:186791839-186791840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142949708	chr2:186791848-186791849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150670259	chr2:186791911-186791912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567839324	chr2:186792029-186792030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12615124	chr2:186792038-186792039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186784200-186809400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:186791400-186791600	ZNF genes & repeats	Pancreas	Pancrea
3	chr2:186791600-186810000	Weak transcription	Pancreas	Pancrea
4	chr2:186806600-186807600	Weak transcription	Left Ventricle	heart
5	chr2:186806800-186809400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:186807200-186810400	ZNF genes & repeats	Liver	Liver
7	chr2:186807600-186809000	ZNF genes & repeats	Left Ventricle	heart
8	chr2:186808200-186808400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr2:186808600-186809000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:186808800-186809200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
11	chr2:186808800-186809600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:186809000-186815200	Weak transcription	Left Ventricle	heart
13	chr2:186809200-186813200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:186809400-186809800	ZNF genes & repeats	Fetal Intestine Large	intestine
15	chr2:186809400-186810200	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:186809600-186810400	Weak transcription	Adipose Nuclei	Adipose
17	chr2:186809800-186816800	Weak transcription	Fetal Intestine Large	intestine
18	chr2:186810000-186810200	ZNF genes & repeats	Ovary	ovary
19	chr2:186810000-186810200	ZNF genes & repeats	Pancreas	Pancrea
20	chr2:186810200-186813000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:186810200-186828000	Weak transcription	Ovary	ovary
22	chr2:186810400-186814400	Weak transcription	Liver	Liver
23	chr2:186815000-186827800	Weak transcription	Aorta	Aorta
24	chr2:186815200-186815600	Strong transcription	Left Ventricle	heart
25	chr2:186815600-186833800	Weak transcription	Left Ventricle	heart
26	chr2:186816600-186817000	Enhancers	Hela-S3	cervix
27	chr2:186821000-186821800	Enhancers	Fetal Brain Male	brain
28	chr2:186827800-186828400	ZNF genes & repeats	Aorta	Aorta
29	chr2:186828000-186828200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr2:186828000-186828800	Strong transcription	Ovary	ovary
31	chr2:186828200-186836800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:186828400-186857400	Weak transcription	Aorta	Aorta
33	chr2:186828800-186867400	Weak transcription	Ovary	ovary
34	chr2:186830600-186831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:186831400-186834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:186832400-186834000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:186833000-186834000	Weak transcription	Fetal Intestine Large	intestine
38	chr2:186834000-186834400	Enhancers	Fetal Intestine Small	intestine
39	chr2:186834000-186836000	Enhancers	Fetal Intestine Large	intestine
40	chr2:186834400-186834600	Weak transcription	Fetal Intestine Small	intestine
41	chr2:186834600-186836200	Enhancers	Fetal Intestine Small	intestine
42	chr2:186834800-186835000	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:186834800-186835600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:186834800-186835600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:186834800-186835800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:186834800-186835800	Enhancers	NHEK	skin
47	chr2:186835000-186835600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:186835000-186835600	Enhancers	Pancreas	Pancrea
49	chr2:186835000-186835800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:186835000-186835800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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