Variant report

Variant	nsv875448
Chromosome Location	chr2:177760005-177819108
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	chr2:177801167-177801703	K562	blood:	n/a	n/a
3	ATF1	chr2:177796570-177796918	K562	blood:	n/a	n/a
4	ATF1	chr2:177798963-177799184	K562	blood:	n/a	n/a
5	ATF2	chr2:177796384-177797229	GM12878	blood:	n/a	n/a
6	ATF2	chr2:177796325-177797339	GM12878	blood:	n/a	n/a
7	ATF3	chr2:177796490-177796904	K562	blood:	n/a	n/a
8	BACH1	chr2:177796581-177796822	H1-hESC	embryonic stem cell:	n/a	chr2:177796715-177796729
9	BATF	chr2:177796434-177796932	GM12878	blood:	n/a	chr2:177796714-177796725
10	BATF	chr2:177796465-177797037	GM12878	blood:	n/a	chr2:177796714-177796725
11	BCL11A	chr2:177796462-177797260	GM12878	blood:	n/a	chr2:177796718-177796727 chr2:177796824-177796833 chr2:177796717-177796726
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	chr2:177800431-177800800	GM12878	blood:	n/a	n/a
15	BCL3	chr2:177796466-177796918	GM12878	blood:	n/a	chr2:177796718-177796727 chr2:177796824-177796833 chr2:177796717-177796726
16	BCLAF1	chr2:177796458-177797227	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	BHLHE40	chr2:177799126-177799289	K562	blood:	n/a	n/a
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	chr2:177801260-177801421	K562	blood:	n/a	n/a
22	BHLHE40	chr2:177800431-177800820	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:177796454-177798272	GM12878	blood:	n/a	chr2:177797165-177797174 chr2:177797158-177797179
24	BRCA1	chr2:177797162-177797306	GM12878	blood:	n/a	n/a
25	BRCA1	chr2:177765638-177765674	GM12878	blood:	n/a	n/a
26	CCNT2	chr2:177796638-177796923	K562	blood:	n/a	n/a
27	CEBPB	chr2:177798810-177799180	K562	blood:	n/a	chr2:177798996-177799007
28	CEBPB	chr2:177768057-177768116	A549	lung:	n/a	n/a
29	CEBPB	chr2:177798875-177799159	HepG2	liver:	n/a	chr2:177798996-177799007
30	CEBPB	chr2:177798866-177799138	Hela-S3	cervix:	n/a	chr2:177798996-177799007
31	CEBPB	chr2:177796599-177796810	K562	blood:	n/a	n/a
32	CEBPB	chr2:177796323-177797256	GM12878	blood:	n/a	n/a
33	CEBPB	chr2:177798809-177799209	K562	blood:	n/a	chr2:177798996-177799007
34	CEBPB	chr2:177796529-177796940	K562	blood:	n/a	n/a
35	CEBPB	chr2:177798852-177799146	K562	blood:	n/a	chr2:177798996-177799007
36	CEBPB	chr2:177760147-177760465	HepG2	liver:	n/a	chr2:177760311-177760322 chr2:177760273-177760285
37	CEBPB	chr2:177798846-177799122	H1-hESC	embryonic stem cell:	n/a	chr2:177798996-177799007
38	CEBPB	chr2:177798866-177799120	IMR90	lung:	n/a	chr2:177798996-177799007
39	CEBPB	chr2:177796582-177796895	K562	blood:	n/a	n/a
40	CEBPD	chr2:177796547-177797005	K562	blood:	n/a	n/a
41	CHD1	chr2:177796373-177797776	GM12878	blood:	n/a	n/a
42	CHD2	chr2:177800349-177800748	GM12878	blood:	n/a	n/a
43	CHD2	chr2:177796441-177797400	GM12878	blood:	n/a	n/a
44	CREB1	chr2:177796500-177797182	GM12878	blood:	n/a	n/a
45	CREB1	chr2:177796356-177797332	GM12878	blood:	n/a	n/a
46	CTCF	chr2:177796680-177796830	HMF	breast:	n/a	chr2:177796698-177796714
47	CTCF	chr2:177796660-177796810	RPTEC	kidney:	n/a	chr2:177796698-177796714
48	CTCF	chr2:177796640-177796790	HMEC	breast:	n/a	chr2:177796698-177796714
49	CTCF	chr2:177765820-177765970	Caco-2	colon:	n/a	n/a
50	CTCF	chr2:177796700-177796850	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:177769969..177771892-chr2:177780039..177782598,2	K562	blood:
2	chr2:177803088..177805941-chr2:177807246..177810006,2	K562	blood:
3	chr2:177766314..177768526-chr2:177771832..177773844,2	K562	blood:
4	chr2:177808450..177812689-chr2:177817399..177820192,3	K562	blood:
5	chr2:177766537..177769341-chr2:177788602..177791267,2	K562	blood:
6	chr2:177766314..177768526-chr2:177771832..177773844,2	K562	blood:
7	chr2:177803088..177805941-chr2:177807246..177810006,2	K562	blood:
8	chr2:177755160..177757379-chr2:177776534..177778883,2	K562	blood:
9	chr2:177794438..177796025-chr2:177797807..177799689,2	K562	blood:
10	chr2:177808450..177812689-chr2:177817399..177820192,3	K562	blood:
11	chr2:177769969..177771892-chr2:177780039..177782598,2	K562	blood:
12	chr2:177766537..177769341-chr2:177788602..177791267,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	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: 742 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558901358	chr2:177770414-177770415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16864692	chr2:177770441-177770442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533576013	chr2:177770473-177770474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560702554	chr2:177770475-177770476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1527268	chr2:177770486-177770487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545871149	chr2:177770556-177770557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17627058	chr2:177770595-177770596	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs146969669	chr2:177770612-177770613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550101352	chr2:177770622-177770623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369084717	chr2:177770623-177770624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73031599	chr2:177770637-177770638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373876379	chr2:177770685-177770686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529152048	chr2:177770738-177770739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181137638	chr2:177770739-177770740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186476084	chr2:177770743-177770744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539676707	chr2:177770773-177770774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16864693	chr2:177770804-177770805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370324841	chr2:177770806-177770807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373903402	chr2:177770808-177770809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59087514	chr2:177770818-177770819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556331128	chr2:177770912-177770913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555305459	chr2:177770938-177770939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573573921	chr2:177770945-177770946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4894213	chr2:177770953-177770954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371104897	chr2:177770955-177770956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554197920	chr2:177770982-177770983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572290325	chr2:177771000-177771001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188144541	chr2:177772005-177772006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35714194	chr2:177772104-177772105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148357559	chr2:177772156-177772157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529613282	chr2:177772157-177772158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192561870	chr2:177772175-177772176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539716034	chr2:177772180-177772181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1561278	chr2:177772193-177772194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs1880910	chr2:177772200-177772201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142138191	chr2:177772234-177772235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537285718	chr2:177772307-177772308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538878115	chr2:177772339-177772340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75351826	chr2:177772341-177772342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574006561	chr2:177772346-177772347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541525685	chr2:177772348-177772349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559752453	chr2:177772397-177772398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16864695	chr2:177775260-177775261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs4145341	chr2:177775275-177775276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577423835	chr2:177775338-177775339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573318040	chr2:177775356-177775357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368270408	chr2:177775395-177775396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563068428	chr2:177775424-177775425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549281555	chr2:177775454-177775455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186029513	chr2:177775470-177775471	Enhancers	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177770400-177771000	Enhancers	Brain Germinal Matrix	brain
2	chr2:177772000-177772400	Enhancers	Ovary	ovary
3	chr2:177775200-177776000	Enhancers	GM12878-XiMat	blood
4	chr2:177775600-177775800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:177779200-177779600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:177788200-177788600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:177788200-177788600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:177788200-177788600	Enhancers	Gastric	stomach
9	chr2:177788600-177789800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:177789800-177790000	Enhancers	Gastric	stomach
11	chr2:177789800-177790200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:177789800-177790200	Enhancers	Colon Smooth Muscle	Colon
13	chr2:177791800-177792800	Enhancers	Fetal Heart	heart
14	chr2:177792800-177796600	Weak transcription	Fetal Heart	heart
15	chr2:177795200-177797000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:177796000-177796200	Enhancers	GM12878-XiMat	blood
17	chr2:177796000-177796600	Enhancers	K562	blood
18	chr2:177796000-177797000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:177796000-177797000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:177796200-177796400	Flanking Active TSS	GM12878-XiMat	blood
21	chr2:177796200-177797400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:177796200-177798200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:177796400-177796800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:177796400-177797000	Active TSS	GM12878-XiMat	blood
25	chr2:177796400-177797000	Enhancers	Hela-S3	cervix
26	chr2:177796600-177796800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:177796600-177796800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:177796600-177796800	Active TSS	K562	blood
29	chr2:177796600-177797000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:177796600-177797000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:177796600-177797000	Enhancers	Fetal Heart	heart
32	chr2:177796600-177797000	Enhancers	HSMM	muscle
33	chr2:177796800-177797000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:177796800-177797000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:177796800-177797000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:177796800-177797000	Flanking Active TSS	K562	blood
37	chr2:177796800-177797200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:177796800-177797200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:177796800-177797200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:177796800-177797400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:177796800-177797400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr2:177797000-177797200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr2:177797000-177797200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:177797000-177797400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:177797000-177798000	Flanking Active TSS	GM12878-XiMat	blood
46	chr2:177797000-177799000	Weak transcription	K562	blood
47	chr2:177797000-177799200	Weak transcription	Fetal Heart	heart
48	chr2:177797000-177800800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:177797200-177797400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:177797200-177797600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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