Variant report

Variant	nsv978790
Chromosome Location	chr19:21820675-21833812
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	CEBPB	chr19:21825264-21825366	K562	blood:	n/a	chr19:21825317-21825328
2	CEBPB	chr19:21825311-21825337	HepG2	liver:	n/a	chr19:21825317-21825328
3	CTCF	chr19:21828200-21828350	HFF-Myc	foreskin:	n/a	n/a
4	ESR1	chr19:21830273-21830462	T-47D	breast:	n/a	n/a
5	FOXA1	chr19:21833744-21834038	T-47D	breast:	n/a	chr19:21833928-21833940 chr19:21833879-21833891 chr19:21833908-21833920
6	GATA3	chr19:21833756-21834062	T-47D	breast:	n/a	n/a
7	POLR2A	chr19:21830340-21830351	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr19:21821085-21821150	K562	blood:	n/a	n/a
9	ZNF384	chr19:21826982-21826997	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000268278	TF binding region
ENSG00000271182	TF binding region

Extended variants
information (count: 820 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577105701	chr19:21820692-21820693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187293425	chr19:21820710-21820711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7256700	chr19:21820763-21820764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs192044328	chr19:21820764-21820765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542317543	chr19:21820796-21820797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7257623	chr19:21820807-21820808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527867078	chr19:21820831-21820832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7257080	chr19:21820858-21820859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs77574581	chr19:21820935-21820936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531838466	chr19:21820948-21820949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544502689	chr19:21820956-21820957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371942024	chr19:21820958-21820959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540925659	chr19:21820960-21820961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138206217	chr19:21820976-21820977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112816324	chr19:21820984-21820985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143688048	chr19:21820985-21820986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7256894	chr19:21821021-21821022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533736651	chr19:21821039-21821040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147215723	chr19:21821042-21821043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576975899	chr19:21821058-21821059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182830294	chr19:21821075-21821076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372691895	chr19:21821084-21821085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556520582	chr19:21821092-21821093	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs7257340	chr19:21821105-21821106	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542278830	chr19:21821107-21821108	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs560374946	chr19:21821113-21821114	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs527833232	chr19:21821117-21821118	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7257154	chr19:21821121-21821122	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564661087	chr19:21821144-21821145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs187738330	chr19:21821175-21821176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386807830	chr19:21821182-21821183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545887932	chr19:21821183-21821184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7257161	chr19:21821184-21821185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs191316474	chr19:21821190-21821191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548206586	chr19:21821203-21821204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566438000	chr19:21821214-21821215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533834184	chr19:21821238-21821239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558387376	chr19:21821243-21821244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570635581	chr19:21821249-21821250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538067788	chr19:21821270-21821271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149291426	chr19:21821272-21821273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144504956	chr19:21821286-21821287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535479469	chr19:21821317-21821318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537124781	chr19:21821322-21821323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112450146	chr19:21821327-21821328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572358522	chr19:21821388-21821389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371404039	chr19:21821398-21821399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143992010	chr19:21821406-21821407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564443508	chr19:21821425-21821426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576207536	chr19:21821447-21821448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21813200-21821400	Weak transcription	Ovary	ovary
2	chr19:21817200-21827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:21817400-21827200	Weak transcription	Fetal Intestine Small	intestine
4	chr19:21818000-21840000	Weak transcription	Pancreas	Pancrea
5	chr19:21829800-21830600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr19:21830600-21831800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:21831800-21832200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr19:21832400-21834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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