Variant report

Variant	esv3415431
Chromosome Location	chr1:246155129-246157227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:246155060-246155679	A549	lung:	n/a	n/a
2	EP300	chr1:246154976-246155630	GM12878	blood:	n/a	n/a
3	HEY1	chr1:246155848-246156303	K562	blood:	n/a	n/a
4	IRF4	chr1:246155059-246155699	GM12878	blood:	n/a	n/a
5	PAX5	chr1:246154926-246155711	GM12878	blood:	n/a	n/a
6	PAX5	chr1:246155735-246156300	GM12878	blood:	n/a	n/a
7	PAX5	chr1:246155019-246155568	GM12878	blood:	n/a	n/a
8	PAX5	chr1:246155952-246156254	GM12878	blood:	n/a	n/a
9	PAX5	chr1:246155010-246155656	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:246154946-246155588	GM12878	blood:	n/a	n/a
11	POU2F2	chr1:246154962-246155688	GM12878	blood:	n/a	n/a
12	SIX5	chr1:246155763-246156213	K562	blood:	n/a	n/a
13	SIX5	chr1:246154974-246155654	K562	blood:	n/a	n/a
14	SIX5	chr1:246154991-246155668	K562	blood:	n/a	n/a
15	SP1	chr1:246155002-246155673	GM12878	blood:	n/a	n/a
16	SPI1	chr1:246155005-246155514	GM12878	blood:	n/a	n/a
17	TAF1	chr1:246155035-246155667	GM12878	blood:	n/a	n/a
18	ZBTB33	chr1:246155039-246155635	K562	blood:	n/a	n/a
19	ZBTB33	chr1:246154978-246155678	K562	blood:	n/a	n/a
20	ZBTB33	chr1:246155006-246155670	GM12878	blood:	n/a	n/a
21	ZBTB33	chr1:246155728-246156366	K562	blood:	n/a	n/a
22	ZBTB33	chr1:246155034-246155643	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
SMYD3	TF binding region

Extended variants
information (count: 139 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531801457	chr1:246155135-246155136	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs76345410	chr1:246155164-246155165	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs79745578	chr1:246155173-246155174	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs113650271	chr1:246155174-246155175	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112454573	chr1:246155179-246155180	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs112705484	chr1:246155195-246155196	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs78255904	chr1:246155203-246155204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113736962	chr1:246155227-246155228	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs12746752	chr1:246155231-246155232	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs112651168	chr1:246155246-246155247	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs12747292	chr1:246155257-246155258	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs12143507	chr1:246155262-246155263	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs12128589	chr1:246155294-246155295	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs113277263	chr1:246155329-246155330	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572315282	chr1:246155361-246155362	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs138651928	chr1:246155374-246155375	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs113983551	chr1:246155375-246155376	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112522031	chr1:246155380-246155381	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs57030458	chr1:246155388-246155389	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs148889151	chr1:246155404-246155405	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs60985840	chr1:246155442-246155443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs58541615	chr1:246155447-246155448	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111514124	chr1:246155455-246155456	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs542367653	chr1:246155462-246155463	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562146745	chr1:246155470-246155471	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs6701543	chr1:246155495-246155496	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200423244	chr1:246155508-246155509	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs112252621	chr1:246155509-246155510	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs112664032	chr1:246155514-246155515	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111351365	chr1:246155522-246155523	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs71533451	chr1:246155562-246155563	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs113423349	chr1:246155576-246155577	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112501315	chr1:246155581-246155582	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs12143605	chr1:246155597-246155598	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570494595	chr1:246155602-246155603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs74154343	chr1:246155605-246155606	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549857931	chr1:246155627-246155628	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369579420	chr1:246155629-246155630	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs531410804	chr1:246155661-246155662	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150086953	chr1:246155686-246155687	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549793644	chr1:246155701-246155702	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs76898466	chr1:246155780-246155781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs6657974	chr1:246155797-246155798	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs6657981	chr1:246155815-246155816	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs6701840	chr1:246155817-246155818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs534903481	chr1:246155826-246155827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs558113169	chr1:246155843-246155844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs150588434	chr1:246155846-246155847	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112344562	chr1:246155862-246155863	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs78900358	chr1:246155870-246155871	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:17 , 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	chr1:246144600-246155600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:246150200-246158800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:246150800-246160800	Weak transcription	NHLF	lung
5	chr1:246151600-246160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:246151600-246160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:246152000-246160200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:246152800-246155200	Enhancers	K562	blood
9	chr1:246153800-246156400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:246154800-246163000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:246155000-246158600	Weak transcription	Fetal Heart	heart
12	chr1:246155000-246158800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:246155000-246159000	Weak transcription	Placenta	Placenta
14	chr1:246155000-246160800	Weak transcription	Right Atrium	heart
15	chr1:246155200-246160600	Weak transcription	K562	blood
16	chr1:246156400-246156600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:246156600-246160600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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