Variant report

Variant	nsv1012465
Chromosome Location	chr2:205335630-205349444
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	chr2:205348269-205348449	K562	blood:	n/a	n/a
2	ATF1	chr2:205337198-205337490	K562	blood:	n/a	n/a
3	BATF	chr2:205344293-205344619	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:205348196-205348389	K562	blood:	n/a	n/a
5	BHLHE40	chr2:205348625-205348749	K562	blood:	n/a	n/a
6	BHLHE40	chr2:205337135-205337399	K562	blood:	n/a	n/a
7	BRCA1	chr2:205338012-205338332	Hela-S3	cervix:	n/a	n/a
8	CCNT2	chr2:205348218-205348734	K562	blood:	n/a	n/a
9	CEBPB	chr2:205337975-205338360	Hela-S3	cervix:	n/a	chr2:205338172-205338184
10	CEBPB	chr2:205347390-205347603	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr2:205344250-205344631	IMR90	lung:	n/a	n/a
12	CEBPB	chr2:205337148-205337456	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:205344277-205344524	A549	lung:	n/a	n/a
14	CEBPB	chr2:205342382-205342697	IMR90	lung:	n/a	n/a
15	CTCF	chr2:205338300-205338450	HVMF	connective:	n/a	n/a
16	CTCF	chr2:205348460-205348610	NHLF	lung:	n/a	n/a
17	CTCF	chr2:205337220-205337370	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr2:205337309-205337314	K562	blood:	n/a	n/a
19	CTCF	chr2:205340240-205340390	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr2:205348940-205349090	GM12869	blood:	n/a	n/a
21	CTCF	chr2:205337331-205337350	K562	blood:	n/a	n/a
22	CTCF	chr2:205340200-205340350	BE2_C	brain:	n/a	n/a
23	CTCF	chr2:205340260-205340410	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr2:205338184-205338242	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr2:205337216-205337502	K562	blood:	n/a	n/a
26	CUX1	chr2:205344381-205344580	K562	blood:	n/a	n/a
27	CUX1	chr2:205348280-205348832	K562	blood:	n/a	chr2:205348716-205348725 chr2:205348716-205348725
28	E2F4	chr2:205347151-205347200	MCF10A-Er-Src	breast:	n/a	n/a
29	EGR1	chr2:205337273-205337540	K562	blood:	n/a	n/a
30	EGR1	chr2:205337281-205337479	K562	blood:	n/a	n/a
31	EP300	chr2:205348244-205349048	ECC-1	luminal epithelium:	n/a	chr2:205348964-205348978 chr2:205348545-205348559
32	EP300	chr2:205340709-205340822	K562	blood:	n/a	n/a
33	EP300	chr2:205347937-205349276	SK-N-SH	brain:	n/a	chr2:205348964-205348978 chr2:205348545-205348559
34	EP300	chr2:205348207-205348762	K562	blood:	n/a	chr2:205348545-205348559
35	EP300	chr2:205344447-205344637	K562	blood:	n/a	n/a
36	EP300	chr2:205340107-205340511	SK-N-SH_RA	brain:	n/a	chr2:205340500-205340507
37	EP300	chr2:205340188-205340506	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr2:205339841-205340984	SK-N-SH	brain:	n/a	chr2:205340062-205340076 chr2:205340500-205340507 chr2:205340819-205340828 chr2:205340058-205340072 chr2:205340063-205340077
39	EP300	chr2:205335732-205336084	K562	blood:	n/a	n/a
40	EP300	chr2:205348220-205348516	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr2:205348526-205348888	SK-N-SH_RA	brain:	n/a	chr2:205348545-205348559
42	EP300	chr2:205337182-205337535	K562	blood:	n/a	n/a
43	EP300	chr2:205337778-205338222	Hela-S3	cervix:	n/a	chr2:205337972-205337986
44	EP300	chr2:205348390-205348904	ECC-1	luminal epithelium:	n/a	chr2:205348545-205348559
45	EP300	chr2:205348206-205348809	SK-N-SH_RA	brain:	n/a	chr2:205348545-205348559
46	ESR1	chr2:205348493-205348861	ECC-1	luminal epithelium:	n/a	n/a
47	FOS	chr2:205344392-205344606	MCF10A-Er-Src	breast:	n/a	chr2:205344508-205344519
48	FOS	chr2:205344358-205344639	MCF10A-Er-Src	breast:	n/a	chr2:205344508-205344519
49	FOS	chr2:205342332-205342591	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:205344380-205344674	HUVEC	blood vessel:	n/a	chr2:205344508-205344519

No.	Distal block	Cell Line	Cell type
1	chr2:205342371..205345502-chr2:205347551..205349331,3	MCF-7	breast:
2	chr2:205345447..205347577-chr2:205349288..205350850,2	K562	blood:
3	chr2:205317294..205319471-chr2:205340816..205343787,2	K562	blood:
4	chr2:205347876..205350145-chr2:205365321..205368902,4	K562	blood:
5	chr2:205342371..205345502-chr2:205347551..205349331,3	MCF-7	breast:
6	chr2:205347876..205349851-chr2:205365321..205368563,3	K562	blood:
7	chr2:205317299..205320276-chr2:205333008..205336367,3	K562	blood:
8	chr2:205345447..205347577-chr2:205349288..205350850,2	K562	blood:
9	chr2:205334439..205337199-chr2:205337976..205341222,3	K562	blood:
10	chr2:205317459..205320428-chr2:205333008..205336253,3	K562	blood:
11	chr2:205341764..205344115-chr2:205410157..205412057,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAPH1-3	chr2:205338349-205338560	XLOC_002470
2	lnc-PARD3B-1	chr2:205340079-205340346	XLOC_001815

Variant related genes	Relation type
ENSG00000236634	TF binding region
ENSG00000237843	TF binding region
ENSG00000236634	chromatin interactions
ENSG00000116117	chromatin interactions
ENSG00000237843	chromatin interactions
CELSR3	miRNA target sites

Extended variants
information (count: 546 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1550910	chr2:205335630-205335631	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138403873	chr2:205335666-205335667	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552383514	chr2:205335728-205335729	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564106121	chr2:205335753-205335754	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs17534221	chr2:205335772-205335773	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555054790	chr2:205335776-205335777	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10490267	chr2:205335850-205335851	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs535124968	chr2:205335895-205335896	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs111735505	chr2:205335922-205335923	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565798822	chr2:205335944-205335945	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112533395	chr2:205335979-205335980	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567932479	chr2:205335990-205335991	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376167895	chr2:205335992-205335993	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559126841	chr2:205335993-205335994	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577333591	chr2:205336014-205336015	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376683986	chr2:205336030-205336031	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540662601	chr2:205336041-205336042	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182007082	chr2:205336057-205336058	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs556851131	chr2:205336119-205336120	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369572633	chr2:205336137-205336138	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76412545	chr2:205336147-205336148	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184642097	chr2:205336198-205336199	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs542284791	chr2:205336219-205336220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556754735	chr2:205336280-205336281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560271297	chr2:205336300-205336301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572532375	chr2:205336368-205336369	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545954111	chr2:205336369-205336370	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs564314118	chr2:205336388-205336389	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs531356691	chr2:205336390-205336391	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565112733	chr2:205336451-205336452	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs78255419	chr2:205336453-205336454	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143354402	chr2:205336549-205336550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs529133660	chr2:205336625-205336626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547395803	chr2:205336628-205336629	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs148367981	chr2:205336629-205336630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12615494	chr2:205336699-205336700	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557544063	chr2:205336705-205336706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141567686	chr2:205336719-205336720	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563118198	chr2:205336761-205336762	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376660366	chr2:205336765-205336766	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs150912186	chr2:205336785-205336786	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538491017	chr2:205336826-205336827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530183660	chr2:205336830-205336831	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs556789558	chr2:205336850-205336851	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs116628453	chr2:205336877-205336878	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs189278064	chr2:205336977-205336978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554161850	chr2:205337021-205337022	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs547889386	chr2:205337033-205337034	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529669174	chr2:205337034-205337035	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs180756594	chr2:205337079-205337080	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205332600-205336200	Enhancers	Fetal Lung	lung
2	chr2:205333400-205335800	Enhancers	Adipose Nuclei	Adipose
3	chr2:205333600-205336000	Enhancers	Brain Anterior Caudate	brain
4	chr2:205334200-205337200	Weak transcription	NH-A	brain
5	chr2:205334400-205337000	Weak transcription	Hela-S3	cervix
6	chr2:205334600-205335800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:205334600-205336000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:205334600-205337200	Weak transcription	HSMMtube	muscle
9	chr2:205335000-205336400	Weak transcription	NHLF	lung
10	chr2:205335000-205337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:205335000-205341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:205335200-205337400	Enhancers	K562	blood
13	chr2:205335600-205336000	Enhancers	Brain Hippocampus Middle	brain
14	chr2:205335800-205336000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:205335800-205341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:205336000-205340800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:205336400-205338200	Enhancers	NHLF	lung
18	chr2:205337000-205337200	Enhancers	Osteobl	bone
19	chr2:205337000-205337400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:205337000-205337800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:205337000-205338800	Enhancers	Hela-S3	cervix
22	chr2:205337200-205337400	Enhancers	NH-A	brain
23	chr2:205337200-205337400	Flanking Active TSS	Osteobl	bone
24	chr2:205337200-205338000	Enhancers	Fetal Intestine Small	intestine
25	chr2:205337200-205338400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:205337200-205338400	Enhancers	Fetal Intestine Large	intestine
27	chr2:205337200-205338400	Enhancers	HSMMtube	muscle
28	chr2:205337400-205337600	Enhancers	Osteobl	bone
29	chr2:205337400-205344000	Weak transcription	K562	blood
30	chr2:205337600-205337800	Flanking Active TSS	Osteobl	bone
31	chr2:205337800-205341000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:205338200-205350400	Weak transcription	NHLF	lung
33	chr2:205338400-205340600	Weak transcription	HSMMtube	muscle
34	chr2:205338400-205341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:205339800-205340600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:205340600-205340800	Enhancers	HSMMtube	muscle
37	chr2:205340600-205344000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:205340800-205341200	Weak transcription	HSMMtube	muscle
39	chr2:205340800-205342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:205341000-205341400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:205341000-205341400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:205341200-205341400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:205341200-205341400	Enhancers	Fetal Kidney	kidney
44	chr2:205341200-205341400	Enhancers	HSMMtube	muscle
45	chr2:205341200-205341600	Enhancers	Osteobl	bone
46	chr2:205341400-205341600	Enhancers	Aorta	Aorta
47	chr2:205341400-205341800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:205341400-205342200	Enhancers	NHEK	skin
49	chr2:205341400-205342400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:205341400-205342600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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