Variant report

Variant	nsv978750
Chromosome Location	chr19:40228783-40230366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:40229864-40229874	HepG2	liver:	n/a	n/a
2	REST	chr19:40230243-40231278	H1-neurons	neurons:	n/a	n/a
3	SPI1	chr19:40229325-40230094	GM12878	blood:	n/a	n/a
4	SPI1	chr19:40229390-40229979	HL-60	blood:	n/a	n/a
5	SPI1	chr19:40229417-40229953	HL-60	blood:	n/a	n/a
6	SPI1	chr19:40229558-40229737	K562	blood:	n/a	n/a
7	SPI1	chr19:40229461-40229816	GM12891	blood:	n/a	n/a
8	SPI1	chr19:40229539-40229770	GM12878	blood:	n/a	n/a
9	SPI1	chr19:40229404-40229916	GM12891	blood:	n/a	n/a
10	SPI1	chr19:40229516-40229803	GM12878	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40229266-40229316	HCF	heart:	n/a
2	chr19:40229266-40229316	HCF	heart:	n/a
3	chr19:40229766-40229816	PANC-1	pancreas:	n/a
4	chr19:40228820-40228870	HCF	heart:	n/a
5	chr19:40229366-40229416	AG04449	skin:	fetal
6	chr19:40229766-40229816	SKMC	muscle:	n/a
7	chr19:40229366-40229416	GM12891	blood:	n/a
8	chr19:40229366-40229416	CMK	blood:	n/a
9	chr19:40228820-40228870	NHDF-neo	bronchial:	n/a
10	chr19:40228820-40228870	GM12878	blood:	n/a
11	chr19:40229766-40229816	BE2_C	brain:	n/a
12	chr19:40229215-40229265	CMK	blood:	n/a
13	chr19:40229215-40229265	HCM	heart:	n/a
14	chr19:40229366-40229416	HCM	heart:	n/a
15	chr19:40228820-40228870	NT2-D1	testis:	n/a
16	chr19:40229366-40229416	K562	blood:	n/a
17	chr19:40228820-40228870	A549	lung:	n/a
18	chr19:40229266-40229316	SKMC	muscle:	n/a
19	chr19:40228820-40228870	AoSMC	blood vessel:	n/a
20	chr19:40229766-40229816	HCF	heart:	n/a
21	chr19:40229366-40229416	ProgFib	skin:	n/a
22	chr19:40229215-40229265	HEEpiC	esophagus:	n/a
23	chr19:40229366-40229416	HPAEpiC	pulmonary alveolar:	n/a
24	chr19:40229766-40229816	MCF-7	breast:	n/a
25	chr19:40229766-40229816	SK-N-SH_RA	brain:	n/a
26	chr19:40229266-40229316	AG04450	lung:	fetal
27	chr19:40229766-40229816	RPTEC	kidney:	n/a
28	chr19:40228820-40228870	T-47D	breast:	n/a
29	chr19:40229766-40229816	Jurkat	blood:	n/a
30	chr19:40229366-40229416	HRPEpiC	eye:	n/a
31	chr19:40229266-40229316	NH-A	brain:	n/a
32	chr19:40229266-40229316	MCF-7	breast:	n/a
33	chr19:40229766-40229816	AoSMC	blood vessel:	n/a
34	chr19:40229215-40229265	HCT-116	colon:	n/a
35	chr19:40229366-40229416	GM12892	blood:	n/a
36	chr19:40228820-40228870	PANC-1	pancreas:	n/a
37	chr19:40229266-40229316	RPTEC	kidney:	n/a
38	chr19:40229366-40229416	HRE	kidney:	n/a
39	chr19:40229215-40229265	NH-A	brain:	n/a
40	chr19:40228820-40228870	SK-N-SH_RA	brain:	n/a
41	chr19:40229215-40229265	GM12891	blood:	n/a
42	chr19:40229266-40229316	H1-hESC	embryonic stem cell:	embryo
43	chr19:40229266-40229316	ECC-1	luminal epithelium:	n/a
44	chr19:40229366-40229416	HMEC	breast:	n/a
45	chr19:40229266-40229316	MCF10A-Er-Src	breast:	n/a
46	chr19:40228820-40228870	HCPEpiC	choroid plexus:	n/a
47	chr19:40229215-40229265	MCF10A-Er-Src	breast:	n/a
48	chr19:40229266-40229316	AG09319	gingival:	n/a
49	chr19:40229266-40229316	NB4	blood:	n/a
50	chr19:40229266-40229316	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
CLC	TF binding region
CLC	CpG island

Extended variants
information (count: 70 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559060912	chr19:40228794-40228795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115555309	chr19:40228796-40228797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs403831	chr19:40228802-40228803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559977041	chr19:40228831-40228832	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs575219220	chr19:40228834-40228835	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs542461831	chr19:40228852-40228853	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs2074928	chr19:40228879-40228880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs7260191	chr19:40228921-40228922	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551868897	chr19:40228934-40228935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565978501	chr19:40228952-40228953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561831870	chr19:40228961-40228962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs390406	chr19:40228971-40228972	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs546433055	chr19:40229001-40229002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186742621	chr19:40229010-40229011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558195097	chr19:40229020-40229021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375688	chr19:40229029-40229030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs536790535	chr19:40229041-40229042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112822988	chr19:40229051-40229052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113434189	chr19:40229068-40229069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116008262	chr19:40229077-40229078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555911416	chr19:40229092-40229093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112201359	chr19:40229102-40229103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577462508	chr19:40229167-40229168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113828025	chr19:40229179-40229180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553606194	chr19:40229191-40229192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28595535	chr19:40229202-40229203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574948051	chr19:40229216-40229217	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs77938620	chr19:40229231-40229232	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs564040942	chr19:40229266-40229267	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs191302425	chr19:40229267-40229268	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs183864858	chr19:40229305-40229306	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs56818708	chr19:40229320-40229321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79597540	chr19:40229326-40229327	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs578251037	chr19:40229367-40229368	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs545416994	chr19:40229395-40229396	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs12611334	chr19:40229409-40229410	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
37	rs7260274	chr19:40229482-40229483	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542785514	chr19:40229511-40229512	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs189272629	chr19:40229582-40229583	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs530855240	chr19:40229591-40229592	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs550486120	chr19:40229603-40229604	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs2108685	chr19:40229622-40229623	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs546651418	chr19:40229624-40229625	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs569162482	chr19:40229627-40229628	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs412211	chr19:40229636-40229637	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544591184	chr19:40229739-40229740	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs75387714	chr19:40229758-40229759	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs535144333	chr19:40229815-40229816	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs7248113	chr19:40229867-40229868	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371416647	chr19:40229883-40229884	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	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
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40225600-40229400	Enhancers	GM12878-XiMat	blood
2	chr19:40226000-40228800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr19:40226200-40229200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr19:40226800-40228800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr19:40227800-40229600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr19:40228200-40229000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:40228200-40229000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr19:40228600-40230200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr19:40228800-40229400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr19:40228800-40230000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr19:40228800-40230600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:40228800-40231200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:40229000-40229200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr19:40229000-40229200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:40229000-40229200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr19:40229200-40230600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:40229200-40230800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr19:40229200-40237400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:40229400-40229800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr19:40229400-40236200	Weak transcription	GM12878-XiMat	blood
21	chr19:40229600-40230600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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