Variant report

Variant	esv6772
Chromosome Location	chr1:246155710-246156368
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	HEY1	chr1:246155848-246156303	K562	blood:	n/a	n/a
2	PAX5	chr1:246154926-246155711	GM12878	blood:	n/a	n/a
3	PAX5	chr1:246155735-246156300	GM12878	blood:	n/a	n/a
4	PAX5	chr1:246155952-246156254	GM12878	blood:	n/a	n/a
5	SIX5	chr1:246155763-246156213	K562	blood:	n/a	n/a
6	ZBTB33	chr1:246155728-246156366	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246152195..246154976-chr1:246155071..246157956,4	K562	blood:

Variant related genes	Relation type
SMYD3	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76898466	chr1:246155780-246155781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs6657974	chr1:246155797-246155798	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs6657981	chr1:246155815-246155816	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs6701840	chr1:246155817-246155818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs534903481	chr1:246155826-246155827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558113169	chr1:246155843-246155844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150588434	chr1:246155846-246155847	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112344562	chr1:246155862-246155863	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs78900358	chr1:246155870-246155871	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs6694778	chr1:246155874-246155875	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs112382834	chr1:246155878-246155879	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76192212	chr1:246155890-246155891	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs111872078	chr1:246155901-246155902	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs113311338	chr1:246155909-246155910	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs6704391	chr1:246155921-246155922	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111437477	chr1:246155956-246155957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs543482740	chr1:246155958-246155959	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs59071857	chr1:246155967-246155968	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111936132	chr1:246155968-246155969	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112869584	chr1:246155970-246155971	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs56726315	chr1:246156003-246156004	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs112083955	chr1:246156050-246156051	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113985621	chr1:246156062-246156063	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs55706901	chr1:246156089-246156090	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112134032	chr1:246156097-246156098	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs56100686	chr1:246156105-246156106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112769276	chr1:246156109-246156110	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs11484998	chr1:246156126-246156127	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11484999	chr1:246156144-246156145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11485000	chr1:246156146-246156147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs547328238	chr1:246156172-246156173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs113040681	chr1:246156173-246156174	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35219586	chr1:246156219-246156220	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs111625989	chr1:246156220-246156221	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs557003826	chr1:246156266-246156267	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573633455	chr1:246156273-246156274	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs11579056	chr1:246156296-246156297	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149319649	chr1:246156317-246156318	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs527911548	chr1:246156336-246156337	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246121000-246166200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:246150200-246158800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:246150800-246160800	Weak transcription	NHLF	lung
4	chr1:246151600-246160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:246151600-246160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:246152000-246160200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:246153800-246156400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:246154800-246163000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:246155000-246158600	Weak transcription	Fetal Heart	heart
10	chr1:246155000-246158800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:246155000-246159000	Weak transcription	Placenta	Placenta
12	chr1:246155000-246160800	Weak transcription	Right Atrium	heart
13	chr1:246155200-246160600	Weak transcription	K562	blood

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