Variant report

Variant	nsv875449
Chromosome Location	chr2:177775612-177835010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:177796528-177797086	K562	blood:	n/a	n/a
2	ATF1	chr2:177798963-177799184	K562	blood:	n/a	n/a
3	ATF1	chr2:177801167-177801703	K562	blood:	n/a	n/a
4	ATF1	chr2:177821616-177821693	K562	blood:	n/a	n/a
5	ATF1	chr2:177796570-177796918	K562	blood:	n/a	n/a
6	ATF2	chr2:177796384-177797229	GM12878	blood:	n/a	n/a
7	ATF2	chr2:177796325-177797339	GM12878	blood:	n/a	n/a
8	ATF3	chr2:177796490-177796904	K562	blood:	n/a	n/a
9	BACH1	chr2:177796581-177796822	H1-hESC	embryonic stem cell:	n/a	chr2:177796715-177796729
10	BATF	chr2:177796434-177796932	GM12878	blood:	n/a	chr2:177796714-177796725
11	BATF	chr2:177796465-177797037	GM12878	blood:	n/a	chr2:177796714-177796725
12	BCL11A	chr2:177796534-177796995	GM12878	blood:	n/a	chr2:177796718-177796727 chr2:177796824-177796833 chr2:177796717-177796726
13	BCL11A	chr2:177797048-177797220	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:177796462-177797260	GM12878	blood:	n/a	chr2:177796718-177796727 chr2:177796824-177796833 chr2:177796717-177796726
15	BCL11A	chr2:177800431-177800800	GM12878	blood:	n/a	n/a
16	BCL3	chr2:177796466-177796918	GM12878	blood:	n/a	chr2:177796718-177796727 chr2:177796824-177796833 chr2:177796717-177796726
17	BCLAF1	chr2:177796456-177797126	GM12878	blood:	n/a	chr2:177796718-177796727 chr2:177796824-177796833 chr2:177796717-177796726
18	BCLAF1	chr2:177796458-177797227	GM12878	blood:	n/a	chr2:177796718-177796727 chr2:177796824-177796833 chr2:177796717-177796726
19	BHLHE40	chr2:177799651-177800047	K562	blood:	n/a	n/a
20	BHLHE40	chr2:177796521-177797395	K562	blood:	n/a	chr2:177797165-177797174 chr2:177797158-177797179
21	BHLHE40	chr2:177825537-177825826	K562	blood:	n/a	chr2:177825638-177825659 chr2:177825644-177825653 chr2:177825643-177825652 chr2:177825645-177825654 chr2:177825644-177825653 chr2:177825642-177825655
22	BHLHE40	chr2:177799126-177799289	K562	blood:	n/a	n/a
23	BHLHE40	chr2:177801260-177801421	K562	blood:	n/a	n/a
24	BHLHE40	chr2:177800431-177800820	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:177796454-177798272	GM12878	blood:	n/a	chr2:177797165-177797174 chr2:177797158-177797179
26	BRCA1	chr2:177797162-177797306	GM12878	blood:	n/a	n/a
27	CCNT2	chr2:177796638-177796923	K562	blood:	n/a	n/a
28	CEBPB	chr2:177796529-177796940	K562	blood:	n/a	n/a
29	CEBPB	chr2:177798809-177799209	K562	blood:	n/a	chr2:177798996-177799007
30	CEBPB	chr2:177796323-177797256	GM12878	blood:	n/a	n/a
31	CEBPB	chr2:177798875-177799159	HepG2	liver:	n/a	chr2:177798996-177799007
32	CEBPB	chr2:177798846-177799122	H1-hESC	embryonic stem cell:	n/a	chr2:177798996-177799007
33	CEBPB	chr2:177825885-177826210	HepG2	liver:	n/a	chr2:177826050-177826063 chr2:177826051-177826062 chr2:177826050-177826061 chr2:177825978-177825991
34	CEBPB	chr2:177825910-177826191	IMR90	lung:	n/a	chr2:177826050-177826063 chr2:177826051-177826062 chr2:177826050-177826061 chr2:177825978-177825991
35	CEBPB	chr2:177825892-177826178	A549	lung:	n/a	chr2:177826050-177826063 chr2:177826051-177826062 chr2:177826050-177826061 chr2:177825978-177825991
36	CEBPB	chr2:177798810-177799180	K562	blood:	n/a	chr2:177798996-177799007
37	CEBPB	chr2:177796599-177796810	K562	blood:	n/a	n/a
38	CEBPB	chr2:177798866-177799138	Hela-S3	cervix:	n/a	chr2:177798996-177799007
39	CEBPB	chr2:177796582-177796895	K562	blood:	n/a	n/a
40	CEBPB	chr2:177798852-177799146	K562	blood:	n/a	chr2:177798996-177799007
41	CEBPB	chr2:177798866-177799120	IMR90	lung:	n/a	chr2:177798996-177799007
42	CEBPB	chr2:177825900-177826190	Hela-S3	cervix:	n/a	chr2:177826050-177826063 chr2:177826051-177826062 chr2:177826050-177826061 chr2:177825978-177825991
43	CEBPD	chr2:177796547-177797005	K562	blood:	n/a	n/a
44	CHD1	chr2:177796373-177797776	GM12878	blood:	n/a	n/a
45	CHD2	chr2:177822686-177822746	GM12878	blood:	n/a	n/a
46	CHD2	chr2:177800349-177800748	GM12878	blood:	n/a	n/a
47	CHD2	chr2:177796441-177797400	GM12878	blood:	n/a	n/a
48	CREB1	chr2:177796356-177797332	GM12878	blood:	n/a	n/a
49	CREB1	chr2:177796500-177797182	GM12878	blood:	n/a	n/a
50	CTCF	chr2:177796660-177796810	RPTEC	kidney:	n/a	chr2:177796698-177796714

No.	Distal block	Cell Line	Cell type
1	chr2:177755160..177757379-chr2:177776534..177778883,2	K562	blood:
2	chr2:177794438..177796025-chr2:177797807..177799689,2	K562	blood:
3	chr2:177808450..177812689-chr2:177817399..177820192,3	K562	blood:
4	chr2:177573905..177575538-chr2:177820254..177821842,2	K562	blood:
5	chr2:177803088..177805941-chr2:177807246..177810006,2	K562	blood:
6	chr2:177803088..177805941-chr2:177807246..177810006,2	K562	blood:
7	chr2:177821477..177823669-chr2:177830664..177833609,2	K562	blood:
8	chr2:177808450..177812689-chr2:177817399..177820192,3	K562	blood:
9	chr2:177769969..177771892-chr2:177780039..177782598,2	K562	blood:
10	chr2:177821477..177823669-chr2:177830664..177833609,2	K562	blood:
11	chr2:177766537..177769341-chr2:177788602..177791267,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFE2L2-6	chr2:177832352-177832629	expReg_chr2_13645_-
2	lnc-HNRNPA3-9	chr2:177786180-177786388	expReg_chr2_13148_+

Variant related genes	Relation type
RNU6-187P	TF binding region
ENSG00000206866	chromatin interactions

Extended variants
information (count: 1097 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1097 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17627353	chr2:177775612-177775613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35048267	chr2:177775622-177775623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189994561	chr2:177775649-177775650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7562648	chr2:177775660-177775661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531600875	chr2:177775683-177775684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549829941	chr2:177775694-177775695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183305274	chr2:177775723-177775724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568229696	chr2:177775748-177775749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558849832	chr2:177775754-177775755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535330171	chr2:177775850-177775851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73033028	chr2:177775852-177775853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565729328	chr2:177775855-177775856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539546307	chr2:177775860-177775861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16864700	chr2:177775920-177775921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142891921	chr2:177775921-177775922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144276047	chr2:177775944-177775945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73033032	chr2:177775977-177775978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571537989	chr2:177779218-177779219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16864711	chr2:177779221-177779222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557079741	chr2:177779246-177779247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13383682	chr2:177779255-177779256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575452945	chr2:177779282-177779283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375767200	chr2:177779297-177779298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191052105	chr2:177779299-177779300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552079132	chr2:177779305-177779306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115394509	chr2:177779331-177779332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572729558	chr2:177779340-177779341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539924482	chr2:177779354-177779355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564678421	chr2:177779526-177779527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537693102	chr2:177779548-177779549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557583341	chr2:177779553-177779554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564353203	chr2:177779556-177779557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145509521	chr2:177779558-177779559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114334547	chr2:177779567-177779568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544150338	chr2:177779573-177779574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34737687	chr2:177779579-177779580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528587231	chr2:177786231-177786232	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs554851142	chr2:177786265-177786266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs528017976	chr2:177786323-177786324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs143830193	chr2:177786361-177786362	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs530075252	chr2:177788317-177788318	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568598041	chr2:177788401-177788402	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543644459	chr2:177788419-177788420	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186995232	chr2:177788510-177788511	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560141001	chr2:177788528-177788529	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550961463	chr2:177788532-177788533	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192392055	chr2:177788583-177788584	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552052815	chr2:177788584-177788585	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558457287	chr2:177788591-177788592	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144532284	chr2:177788620-177788621	Weak transcription	n/a	n/a	Overlapped CNVs	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
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177775200-177776000	Enhancers	GM12878-XiMat	blood
2	chr2:177775600-177775800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr2:177779200-177779600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:177788200-177788600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:177788200-177788600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:177788200-177788600	Enhancers	Gastric	stomach
7	chr2:177788600-177789800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:177789800-177790000	Enhancers	Gastric	stomach
9	chr2:177789800-177790200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:177789800-177790200	Enhancers	Colon Smooth Muscle	Colon
11	chr2:177791800-177792800	Enhancers	Fetal Heart	heart
12	chr2:177792800-177796600	Weak transcription	Fetal Heart	heart
13	chr2:177795200-177797000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:177796000-177796200	Enhancers	GM12878-XiMat	blood
15	chr2:177796000-177796600	Enhancers	K562	blood
16	chr2:177796000-177797000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:177796000-177797000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:177796200-177796400	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:177796200-177797400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:177796200-177798200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:177796400-177796800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:177796400-177797000	Active TSS	GM12878-XiMat	blood
23	chr2:177796400-177797000	Enhancers	Hela-S3	cervix
24	chr2:177796600-177796800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:177796600-177796800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:177796600-177796800	Active TSS	K562	blood
27	chr2:177796600-177797000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:177796600-177797000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:177796600-177797000	Enhancers	Fetal Heart	heart
30	chr2:177796600-177797000	Enhancers	HSMM	muscle
31	chr2:177796800-177797000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:177796800-177797000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:177796800-177797000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:177796800-177797000	Flanking Active TSS	K562	blood
35	chr2:177796800-177797200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:177796800-177797200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:177796800-177797200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:177796800-177797400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:177796800-177797400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr2:177797000-177797200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr2:177797000-177797200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:177797000-177797400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:177797000-177798000	Flanking Active TSS	GM12878-XiMat	blood
44	chr2:177797000-177799000	Weak transcription	K562	blood
45	chr2:177797000-177799200	Weak transcription	Fetal Heart	heart
46	chr2:177797000-177800800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:177797200-177797400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:177797200-177797600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:177797200-177797600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:177797200-177798200	Enhancers	Primary T cells fromperipheralblood	blood

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