Variant report

Variant	esv2390771
Chromosome Location	chr1:246647210-246647685
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	BATF	chr1:246647202-246648395	GM12878	blood:	n/a	n/a
2	BCL11A	chr1:246647613-246648442	GM12878	blood:	n/a	n/a
3	EBF1	chr1:246647546-246647928	GM12878	blood:	n/a	n/a
4	FOXA1	chr1:246647249-246647598	HepG2	liver:	n/a	n/a
5	IRF4	chr1:246647182-246648490	GM12878	blood:	n/a	n/a
6	PAX5	chr1:246647127-246648591	GM12878	blood:	n/a	n/a
7	RXRA	chr1:246647531-246648063	GM12878	blood:	n/a	n/a
8	SIX5	chr1:246647193-246647710	GM12878	blood:	n/a	n/a
9	SP1	chr1:246647474-246648654	GM12878	blood:	n/a	n/a
10	SP1	chr1:246647381-246648061	GM12878	blood:	n/a	n/a
11	ZBTB33	chr1:246647561-246647925	K562	blood:	n/a	n/a
12	ZBTB33	chr1:246647333-246647947	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SMYD3	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573693220	chr1:246647235-246647236	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs73134187	chr1:246647245-246647246	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192026047	chr1:246647268-246647269	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150984658	chr1:246647271-246647272	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541250213	chr1:246647301-246647302	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs111613115	chr1:246647309-246647310	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs7540483	chr1:246647323-246647324	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs111652174	chr1:246647325-246647326	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7540489	chr1:246647328-246647329	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs564731021	chr1:246647342-246647343	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs112237380	chr1:246647348-246647349	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7540559	chr1:246647375-246647376	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7547748	chr1:246647380-246647381	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs80274110	chr1:246647394-246647395	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs112792525	chr1:246647400-246647401	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs78247246	chr1:246647401-246647402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs549878606	chr1:246647412-246647413	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111272761	chr1:246647429-246647430	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs199728005	chr1:246647432-246647433	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs529254624	chr1:246647433-246647434	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs549015844	chr1:246647451-246647452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs7547243	chr1:246647452-246647453	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111470435	chr1:246647458-246647459	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs55906553	chr1:246647465-246647466	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7549986	chr1:246647481-246647482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534949953	chr1:246647485-246647486	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs76313857	chr1:246647504-246647505	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs571439572	chr1:246647507-246647508	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs74163451	chr1:246647516-246647517	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs35983452	chr1:246647533-246647534	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs557101659	chr1:246647535-246647536	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs573631643	chr1:246647537-246647538	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542641224	chr1:246647550-246647551	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552973385	chr1:246647555-246647556	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs79757460	chr1:246647556-246647557	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs33954186	chr1:246647563-246647564	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs34490158	chr1:246647583-246647584	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs34300324	chr1:246647585-246647586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541732930	chr1:246647587-246647588	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs564488566	chr1:246647588-246647589	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs11806531	chr1:246647589-246647590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs7547364	chr1:246647602-246647603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs533582761	chr1:246647606-246647607	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs61839822	chr1:246647608-246647609	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs202188883	chr1:246647632-246647633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377666818	chr1:246647637-246647638	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369468175	chr1:246647640-246647641	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs76411171	chr1:246647641-246647642	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs113527935	chr1:246647654-246647655	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs143713327	chr1:246647660-246647661	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
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
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246623600-246663200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:246644800-246648400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:246646200-246647400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr1:246646600-246647400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:246647200-246647400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:246647200-246647400	Enhancers	GM12878-XiMat	blood
7	chr1:246647400-246648400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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