Variant report

Variant	nsv962987
Chromosome Location	chr19:51692435-51697218
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	chr19:51695248-51695485	K562	blood:	n/a	n/a
2	TCF12	chr19:51695986-51696175	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr19:51692570-51692680	HepG2	liver:	n/a	chr19:51692606-51692617
4	USF1	chr19:51692561-51692679	HepG2	liver:	n/a	chr19:51692606-51692617

Variant related genes	Relation type
SIGLEC21P	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553186505	chr19:51692465-51692466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34528093	chr19:51692470-51692471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187155214	chr19:51692502-51692503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12609206	chr19:51692558-51692559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373905653	chr19:51695013-51695014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546306672	chr19:51695040-51695041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536123531	chr19:51695113-51695114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12461866	chr19:51695139-51695140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368163305	chr19:51695142-51695143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538088862	chr19:51695192-51695193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185493626	chr19:51695194-51695195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568444553	chr19:51695214-51695215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149800257	chr19:51695215-51695216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533712966	chr19:51695238-51695239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200153406	chr19:51695313-51695314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114475135	chr19:51695391-51695392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548981058	chr19:51695439-51695440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190327231	chr19:51695474-51695475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10411928	chr19:51695477-51695478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562459689	chr19:51695506-51695507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376544299	chr19:51695552-51695553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562254218	chr19:51695572-51695573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181522288	chr19:51695635-51695636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537834094	chr19:51695739-51695740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370993352	chr19:51695759-51695760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527903901	chr19:51695785-51695786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114050942	chr19:51695804-51695805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554155772	chr19:51695816-51695817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567778531	chr19:51695846-51695847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535087142	chr19:51695848-51695849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10416781	chr19:51695863-51695864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531700068	chr19:51695893-51695894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112101443	chr19:51695900-51695901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549794745	chr19:51695908-51695909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11672116	chr19:51695909-51695910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs10418167	chr19:51695932-51695933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117695710	chr19:51695940-51695941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186601028	chr19:51695955-51695956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188366824	chr19:51696060-51696061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141592442	chr19:51696083-51696084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11882420	chr19:51696084-51696085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374093571	chr19:51696095-51696096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537925007	chr19:51696111-51696112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147033178	chr19:51696113-51696114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574509687	chr19:51696132-51696133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147753130	chr19:51696137-51696138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368918960	chr19:51696143-51696144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7254890	chr19:51696144-51696145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546416307	chr19:51696182-51696183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374098356	chr19:51696188-51696189	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51688800-51692600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr19:51695000-51696000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:51696000-51696200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51696200-51702000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:51696400-51705400	Weak transcription	Right Atrium	heart
6	chr19:51697200-51698400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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