Variant report

Variant	esv13157
Chromosome Location	chr1:246647566-246648632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:246648136-246648477	GM12878	blood:	n/a	n/a
2	BATF	chr1:246647202-246648395	GM12878	blood:	n/a	n/a
3	BCL11A	chr1:246647613-246648442	GM12878	blood:	n/a	n/a
4	CTCF	chr1:246648283-246648413	GM20000	blood:	n/a	n/a
5	CTCF	chr1:246648278-246648340	GM13976	blood:	n/a	n/a
6	CTCF	chr1:246648264-246648313	GM10248	blood:	n/a	n/a
7	EBF1	chr1:246648048-246648335	GM12878	blood:	n/a	n/a
8	EBF1	chr1:246647546-246647928	GM12878	blood:	n/a	n/a
9	EP300	chr1:246648005-246648635	GM12878	blood:	n/a	n/a
10	ESR1	chr1:246648100-246648550	T-47D	breast:	n/a	n/a
11	FOSL2	chr1:246648087-246648498	HepG2	liver:	n/a	n/a
12	FOXA1	chr1:246647715-246648258	HepG2	liver:	n/a	n/a
13	FOXA1	chr1:246647249-246647598	HepG2	liver:	n/a	n/a
14	GATA2	chr1:246647691-246648472	K562	blood:	n/a	n/a
15	IRF4	chr1:246647182-246648490	GM12878	blood:	n/a	n/a
16	IRF4	chr1:246648173-246648554	GM12878	blood:	n/a	n/a
17	PAX5	chr1:246648076-246648544	GM12878	blood:	n/a	n/a
18	PAX5	chr1:246648122-246648416	GM12878	blood:	n/a	n/a
19	PAX5	chr1:246647127-246648591	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:246648074-246648447	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:246648064-246648481	Hela-S3	cervix:	n/a	n/a
22	POU2F2	chr1:246647992-246648517	GM12878	blood:	n/a	n/a
23	RXRA	chr1:246647693-246647918	HepG2	liver:	n/a	n/a
24	RXRA	chr1:246647531-246648063	GM12878	blood:	n/a	n/a
25	SIX5	chr1:246647193-246647710	GM12878	blood:	n/a	n/a
26	SIX5	chr1:246647900-246648507	K562	blood:	n/a	n/a
27	SP1	chr1:246647474-246648654	GM12878	blood:	n/a	n/a
28	SP1	chr1:246647381-246648061	GM12878	blood:	n/a	n/a
29	ZBTB33	chr1:246647951-246648337	K562	blood:	n/a	n/a
30	ZBTB33	chr1:246648094-246648425	HepG2	liver:	n/a	n/a
31	ZBTB33	chr1:246647961-246648549	K562	blood:	n/a	n/a
32	ZBTB33	chr1:246647333-246647947	HepG2	liver:	n/a	n/a
33	ZBTB33	chr1:246647561-246647925	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
SMYD3	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34490158	chr1:246647583-246647584	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs34300324	chr1:246647585-246647586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs541732930	chr1:246647587-246647588	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs564488566	chr1:246647588-246647589	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs11806531	chr1:246647589-246647590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs7547364	chr1:246647602-246647603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533582761	chr1:246647606-246647607	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs61839822	chr1:246647608-246647609	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs202188883	chr1:246647632-246647633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377666818	chr1:246647637-246647638	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs369468175	chr1:246647640-246647641	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76411171	chr1:246647641-246647642	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113527935	chr1:246647654-246647655	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs143713327	chr1:246647660-246647661	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs113870428	chr1:246647667-246647668	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs370350998	chr1:246647687-246647688	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs71533482	chr1:246647689-246647690	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs78594483	chr1:246647693-246647694	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112451919	chr1:246647700-246647701	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201990081	chr1:246647712-246647713	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs566090736	chr1:246647724-246647725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376579997	chr1:246647741-246647742	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs551667771	chr1:246647745-246647746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369361109	chr1:246647764-246647765	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs56203063	chr1:246647770-246647771	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs112513190	chr1:246647810-246647811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs550152184	chr1:246647816-246647817	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557393702	chr1:246647868-246647869	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370819004	chr1:246647900-246647901	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571312432	chr1:246647901-246647902	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs562615690	chr1:246647920-246647921	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs113778661	chr1:246647927-246647928	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs368353625	chr1:246647949-246647950	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113081229	chr1:246647952-246647953	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558027824	chr1:246647966-246647967	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs549795491	chr1:246647972-246647973	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550841407	chr1:246647975-246647976	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs374630301	chr1:246648001-246648002	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs578001380	chr1:246648004-246648005	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs61839823	chr1:246648018-246648019	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537044185	chr1:246648024-246648025	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371515770	chr1:246648056-246648057	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs111833475	chr1:246648070-246648071	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs111466840	chr1:246648076-246648077	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs12737077	chr1:246648077-246648078	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs112558205	chr1:246648083-246648084	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs552666107	chr1:246648105-246648106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs12757524	chr1:246648108-246648109	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs574853705	chr1:246648110-246648111	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs542296258	chr1:246648133-246648134	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:5 , 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	chr1:246647400-246648400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:246648400-246648600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:246648400-246648600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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