Variant report

Variant	nsv875618
Chromosome Location	chr2:190789387-190883360
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	ATF2	chr2:190817158-190817844	GM12878	blood:	n/a	n/a
2	ATF2	chr2:190816968-190817951	GM12878	blood:	n/a	n/a
3	BACH1	chr2:190802621-190802640	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr2:190817303-190817772	GM12878	blood:	n/a	n/a
5	BATF	chr2:190817318-190817855	GM12878	blood:	n/a	n/a
6	BATF	chr2:190819780-190820004	GM12878	blood:	n/a	chr2:190819934-190819945
7	BATF	chr2:190819797-190820027	GM12878	blood:	n/a	chr2:190819934-190819945
8	BCL11A	chr2:190817442-190817887	GM12878	blood:	n/a	chr2:190817666-190817675
9	BCL11A	chr2:190817521-190817792	GM12878	blood:	n/a	chr2:190817666-190817675
10	BCL3	chr2:190817407-190817802	GM12878	blood:	n/a	chr2:190817666-190817675
11	BCL3	chr2:190798514-190799234	A549	lung:	n/a	n/a
12	BCLAF1	chr2:190817261-190817936	GM12878	blood:	n/a	chr2:190817666-190817675
13	BHLHE40	chr2:190817385-190817913	GM12878	blood:	n/a	n/a
14	BRCA1	chr2:190798629-190799193	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr2:190807808-190808017	K562	blood:	n/a	n/a
16	CBX3	chr2:190847475-190847863	K562	blood:	n/a	n/a
17	CBX3	chr2:190807760-190808039	K562	blood:	n/a	n/a
18	CBX3	chr2:190882507-190882982	HCT-116	colon:	n/a	n/a
19	CBX3	chr2:190846847-190847164	K562	blood:	n/a	n/a
20	CEBPB	chr2:190792426-190793036	H1-hESC	embryonic stem cell:	n/a	chr2:190792744-190792755
21	CEBPB	chr2:190792419-190793041	A549	lung:	n/a	chr2:190792744-190792755
22	CEBPB	chr2:190792520-190792908	K562	blood:	n/a	chr2:190792744-190792755
23	CEBPB	chr2:190792451-190792999	K562	blood:	n/a	chr2:190792744-190792755
24	CEBPB	chr2:190798574-190799103	A549	lung:	n/a	n/a
25	CEBPB	chr2:190792378-190793072	HCT-116	colon:	n/a	chr2:190792744-190792755
26	CEBPB	chr2:190792394-190793073	ECC-1	luminal epithelium:	n/a	chr2:190792744-190792755
27	CEBPB	chr2:190792562-190792947	HepG2	liver:	n/a	chr2:190792744-190792755
28	CEBPB	chr2:190792588-190793047	HCT-116	colon:	n/a	chr2:190792744-190792755
29	CEBPB	chr2:190798544-190799170	A549	lung:	n/a	n/a
30	CEBPB	chr2:190792501-190793262	Hela-S3	cervix:	n/a	chr2:190792744-190792755 chr2:190793210-190793223
31	CEBPB	chr2:190792527-190792964	IMR90	lung:	n/a	chr2:190792744-190792755
32	CEBPB	chr2:190798431-190799296	A549	lung:	n/a	n/a
33	CEBPB	chr2:190792402-190793105	MCF-7	breast:	n/a	chr2:190792744-190792755
34	CEBPB	chr2:190792583-190792856	HepG2	liver:	n/a	chr2:190792744-190792755
35	CEBPB	chr2:190792270-190793152	A549	lung:	n/a	chr2:190792744-190792755
36	CEBPB	chr2:190863410-190863662	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr2:190798536-190799164	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:190792550-190792964	A549	lung:	n/a	chr2:190792744-190792755
39	CEBPB	chr2:190831259-190831697	MCF-7	breast:	n/a	n/a
40	CEBPB	chr2:190798512-190799179	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr2:190792431-190792986	K562	blood:	n/a	chr2:190792744-190792755
42	CEBPB	chr2:190792389-190793099	ECC-1	luminal epithelium:	n/a	chr2:190792744-190792755
43	CEBPB	chr2:190792495-190792948	MCF-7	breast:	n/a	chr2:190792744-190792755
44	CEBPD	chr2:190818956-190819314	K562	blood:	n/a	n/a
45	CEBPD	chr2:190792594-190792839	K562	blood:	n/a	n/a
46	CHD1	chr2:190817341-190817801	GM12878	blood:	n/a	n/a
47	CHD2	chr2:190817343-190817848	GM12878	blood:	n/a	n/a
48	CTCF	chr2:190847739-190847810	GM19240	blood:	n/a	n/a
49	CTCF	chr2:190847680-190847830	HMF	breast:	n/a	n/a
50	CTCF	chr2:190847666-190847851	GM19239	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:190804150..190806876-chr2:190810608..190813171,2	K562	blood:
2	chr2:190804150..190806876-chr2:190810608..190813171,2	K562	blood:
3	chr2:190773590..190776514-chr2:190792522..190794734,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSTN-1	chr2:190795003-190795121	NONHSAT076076
2	lnc-MSTN-1	chr2:190795416-190795736	NONHSAT076076

Variant related genes	Relation type
ENSG00000213110	TF binding region

Extended variants
information (count: 1011 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532457760	chr2:190792403-190792404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189060790	chr2:190792423-190792424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113035700	chr2:190792449-190792450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568166702	chr2:190792468-190792469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547510769	chr2:190792470-190792471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541659219	chr2:190792476-190792477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192646760	chr2:190792489-190792490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559117025	chr2:190792560-190792561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530628020	chr2:190792609-190792610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74703743	chr2:190792622-190792623	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs77929853	chr2:190792669-190792670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs288827	chr2:190792688-190792689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546614466	chr2:190792749-190792750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73979102	chr2:190792750-190792751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528934375	chr2:190792787-190792788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190603767	chr2:190792811-190792812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181911117	chr2:190792921-190792922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570225568	chr2:190792977-190792978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12693558	chr2:190792996-190792997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537021169	chr2:190793017-190793018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552885073	chr2:190793029-190793030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77022811	chr2:190793046-190793047	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs534700362	chr2:190793050-190793051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553380493	chr2:190793141-190793142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574744759	chr2:190793194-190793195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535904518	chr2:190793196-190793197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557051595	chr2:190793262-190793263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575069017	chr2:190793302-190793303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35679100	chr2:190793356-190793357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112974417	chr2:190793382-190793383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111234102	chr2:190793387-190793388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188725375	chr2:190793397-190793398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573137884	chr2:190793427-190793428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540159407	chr2:190793457-190793458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13017931	chr2:190793493-190793494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181127577	chr2:190793508-190793509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576375775	chr2:190793552-190793553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76292963	chr2:190793652-190793653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534704824	chr2:190793654-190793655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74673292	chr2:190793669-190793670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531113894	chr2:190793726-190793727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73044270	chr2:190793738-190793739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571160030	chr2:190793767-190793768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535279871	chr2:190793770-190793771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546988202	chr2:190793804-190793805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568408224	chr2:190793823-190793824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535503924	chr2:190793848-190793849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113723553	chr2:190793863-190793864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557019470	chr2:190793954-190793955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575374173	chr2:190793990-190793991	Enhancers 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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190792400-190792600	Weak transcription	HSMM	muscle
2	chr2:190792400-190792800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:190792400-190792800	Enhancers	NHDF-Ad	bronchial
4	chr2:190792400-190793000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:190792400-190793000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:190792600-190792800	Enhancers	HSMM	muscle
7	chr2:190792600-190793000	Enhancers	A549	lung
8	chr2:190792800-190797600	Weak transcription	HSMM	muscle
9	chr2:190792800-190797600	Weak transcription	NHDF-Ad	bronchial
10	chr2:190792800-190797800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:190793000-190794200	Weak transcription	A549	lung
12	chr2:190793000-190797400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:190793000-190797600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:190793800-190794000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:190794000-190794600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:190794200-190795200	Enhancers	A549	lung
17	chr2:190794400-190795200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:190794600-190795200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:190795200-190797400	Weak transcription	A549	lung
20	chr2:190797200-190797800	Enhancers	GM12878-XiMat	blood
21	chr2:190797400-190797800	Enhancers	A549	lung
22	chr2:190797400-190798200	Enhancers	NHLF	lung
23	chr2:190797400-190800800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:190797600-190800000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:190797600-190800600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:190797600-190800800	Enhancers	HSMM	muscle
27	chr2:190797600-190800800	Enhancers	NHDF-Ad	bronchial
28	chr2:190797600-190801000	Enhancers	NHEK	skin
29	chr2:190797800-190798000	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:190797800-190798200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:190797800-190799200	Flanking Active TSS	A549	lung
32	chr2:190797800-190800600	Enhancers	Osteobl	bone
33	chr2:190798000-190798200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:190798000-190798200	Enhancers	GM12878-XiMat	blood
35	chr2:190798000-190800000	Enhancers	NH-A	brain
36	chr2:190798200-190798400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:190798200-190798400	Flanking Active TSS	GM12878-XiMat	blood
38	chr2:190798200-190799000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:190798200-190799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:190798200-190799400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:190798200-190800600	Weak transcription	NHLF	lung
42	chr2:190798400-190798800	Enhancers	GM12878-XiMat	blood
43	chr2:190798400-190799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:190798600-190799000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:190798600-190799200	Enhancers	Hela-S3	cervix
46	chr2:190799000-190799600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:190799000-190800800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:190799200-190800600	Enhancers	A549	lung
49	chr2:190799600-190799800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:190799600-190799800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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