Variant report

Variant	nsv961223
Chromosome Location	chr19:43136217-43137733
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	CTCF	chr19:43137500-43137650	HEK293	kidney:	n/a	n/a
2	POLR2A	chr19:43137198-43137324	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CEACAMP1	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77854885	chr19:43136239-43136240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543890699	chr19:43136253-43136254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367960358	chr19:43136254-43136255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533669525	chr19:43136295-43136296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547495339	chr19:43136299-43136300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376054111	chr19:43136302-43136303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146304421	chr19:43136312-43136313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7249411	chr19:43136319-43136320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201056746	chr19:43136356-43136357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199693346	chr19:43136357-43136358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191585086	chr19:43136358-43136359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200465501	chr19:43136359-43136360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552113807	chr19:43136361-43136362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142080128	chr19:43136362-43136363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569977110	chr19:43136388-43136389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571324634	chr19:43136418-43136419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7248543	chr19:43136460-43136461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs59983776	chr19:43136464-43136465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554385076	chr19:43136473-43136474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375461990	chr19:43136474-43136475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572502137	chr19:43136533-43136534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34812078	chr19:43136552-43136553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138172582	chr19:43136658-43136659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184323127	chr19:43136732-43136733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373764550	chr19:43136815-43136816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115510300	chr19:43136820-43136821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142685621	chr19:43136888-43136889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369819028	chr19:43136915-43136916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373504757	chr19:43136933-43136934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs59525393	chr19:43136951-43136952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146020291	chr19:43136958-43136959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544573835	chr19:43137005-43137006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549334849	chr19:43137037-43137038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139614424	chr19:43137053-43137054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527325816	chr19:43137099-43137100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547176002	chr19:43137122-43137123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10413508	chr19:43137152-43137153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529811830	chr19:43137161-43137162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550018274	chr19:43137182-43137183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8107509	chr19:43137202-43137203	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs578018225	chr19:43137210-43137211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116007900	chr19:43137217-43137218	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs111339175	chr19:43137239-43137240	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs532956354	chr19:43137266-43137267	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs551656654	chr19:43137268-43137269	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs535064382	chr19:43137269-43137270	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs554718414	chr19:43137270-43137271	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs574884988	chr19:43137272-43137273	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs543617869	chr19:43137286-43137287	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs535710183	chr19:43137312-43137313	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43132000-43137000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr19:43137000-43139000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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