Variant report

Variant	nsv978813
Chromosome Location	chr19:38187175-38188871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:38188197-38188305	MCF-7	breast:	n/a	n/a
2	MYC	chr19:38187482-38187658	MCF-7	breast:	n/a	n/a
3	MYC	chr19:38187857-38187922	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr19:38187672-38187690	MCF-7	breast:	n/a	n/a
5	MYC	chr19:38187612-38187648	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:38187450-38187791	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:38187496-38187783	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr19:38188090-38188228	Gliobla	brain:	n/a	n/a
9	POLR2A	chr19:38188103-38188297	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:38187784-38188046	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:38188142-38188252	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:38188055-38188103	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:38187550-38187835	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:38187410-38188087	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:38188219-38188340	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr19:38187841-38187872	MCF-7	breast:	n/a	n/a
17	POLR2A	chr19:38188121-38188131	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:38187579-38187713	K562	blood:	n/a	n/a
19	POLR2A	chr19:38187453-38187774	MCF-7	breast:	n/a	n/a
20	POLR2A	chr19:38187957-38188003	MCF-7	breast:	n/a	n/a
21	POLR2A	chr19:38187558-38187563	K562	blood:	n/a	n/a
22	POLR2A	chr19:38188076-38188090	MCF-7	breast:	n/a	n/a
23	POLR2A	chr19:38188082-38188194	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:38187852-38188371	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38188083-38188133	NT2-D1	testis:	n/a
2	chr19:38188083-38188133	GM06990	blood:	n/a
3	chr19:38188083-38188133	A549	lung:	n/a
4	chr19:38188083-38188133	K562	blood:	n/a
5	chr19:38188083-38188133	ProgFib	skin:	n/a
6	chr19:38188083-38188133	Caco-2	colon:	n/a
7	chr19:38188083-38188133	HEEpiC	esophagus:	n/a
8	chr19:38188083-38188133	HCPEpiC	choroid plexus:	n/a
9	chr19:38188083-38188133	HUVEC	blood vessel:	n/a
10	chr19:38188083-38188133	LNCaP	prostate:	n/a
11	chr19:38188083-38188133	NHBE	bronchial:	n/a
12	chr19:38188083-38188133	MCF10A-Er-Src	breast:	n/a
13	chr19:38188083-38188133	RPTEC	kidney:	n/a
14	chr19:38188083-38188133	AoSMC	blood vessel:	n/a
15	chr19:38188083-38188133	HMEC	breast:	n/a
16	chr19:38188083-38188133	ovcar-3	ovarian:	n/a
17	chr19:38188083-38188133	IMR90	lung:	fetal
18	chr19:38188083-38188133	AG04450	lung:	fetal
19	chr19:38188083-38188133	HCM	heart:	n/a
20	chr19:38188083-38188133	SKMC	muscle:	n/a
21	chr19:38188083-38188133	T-47D	breast:	n/a
22	chr19:38188083-38188133	HPAEpiC	pulmonary alveolar:	n/a
23	chr19:38188083-38188133	AG09309	skin:	n/a
24	chr19:38188083-38188133	SK-N-SH_RA	brain:	n/a
25	chr19:38188083-38188133	BE2_C	brain:	n/a
26	chr19:38188083-38188133	NB4	blood:	n/a
27	chr19:38188083-38188133	HRE	kidney:	n/a
28	chr19:38188083-38188133	GM12892	blood:	n/a
29	chr19:38188083-38188133	HRPEpiC	eye:	n/a
30	chr19:38188083-38188133	AG04449	skin:	fetal
31	chr19:38188083-38188133	NH-A	brain:	n/a
32	chr19:38188083-38188133	AG09319	gingival:	n/a
33	chr19:38188083-38188133	MCF-7	breast:	n/a
34	chr19:38188083-38188133	PrEC	prostate:	n/a
35	chr19:38188083-38188133	BJ	skin:	n/a
36	chr19:38188083-38188133	HepG2	liver:	n/a
37	chr19:38188083-38188133	HCF	heart:	n/a
38	chr19:38188083-38188133	HIPEpiC	eye:	n/a
39	chr19:38188083-38188133	Hela-S3	cervix:	n/a
40	chr19:38188083-38188133	NHDF-neo	bronchial:	n/a
41	chr19:38188083-38188133	HL-60	blood:	n/a
42	chr19:38188083-38188133	GM19239	blood:	n/a
43	chr19:38188083-38188133	HAEpiC	amniotic membrane:	n/a
44	chr19:38188083-38188133	SK-N-MC	brain:	n/a
45	chr19:38188083-38188133	HNPCEpiC	eye:	n/a
46	chr19:38188083-38188133	H1-hESC	embryonic stem cell:	embryo
47	chr19:38188083-38188133	GM12891	blood:	n/a
48	chr19:38188083-38188133	CMK	blood:	n/a
49	chr19:38188083-38188133	SK-N-SH	brain:	n/a
50	chr19:38188083-38188133	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38134173..38137861-chr19:38186479..38189500,3	K562	blood:

No data

Variant related genes	Relation type
ZFP30	TF binding region
ZNF781	TF binding region
ENSG00000267319	TF binding region
ZFP30	CpG island
ZNF781	CpG island
ENSG00000267319	CpG island

Extended variants
information (count: 75 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558911904	chr19:38187195-38187196	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529685673	chr19:38187229-38187230	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547952451	chr19:38187301-38187302	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183270806	chr19:38187350-38187351	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4006732	chr19:38187360-38187361	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537217131	chr19:38187419-38187420	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
7	rs552761502	chr19:38187441-38187442	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
8	rs571112920	chr19:38187449-38187450	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
9	rs186184816	chr19:38187477-38187478	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
10	rs149640717	chr19:38187496-38187497	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
11	rs144374307	chr19:38187542-38187543	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
12	rs543519615	chr19:38187543-38187544	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
13	rs76141649	chr19:38187552-38187553	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
14	rs575713604	chr19:38187574-38187575	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
15	rs543204662	chr19:38187580-38187581	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
16	rs7245981	chr19:38187583-38187584	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576665118	chr19:38187618-38187619	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
18	rs540921872	chr19:38187619-38187620	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
19	rs559247214	chr19:38187629-38187630	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
20	rs373991229	chr19:38187630-38187631	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
21	rs529644441	chr19:38187638-38187639	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
22	rs190696083	chr19:38187639-38187640	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs183407383	chr19:38187642-38187643	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
24	rs530634726	chr19:38187648-38187649	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
25	rs552764640	chr19:38187667-38187668	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
26	rs571049016	chr19:38187711-38187712	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
27	rs535281856	chr19:38187712-38187713	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
28	rs547293624	chr19:38187722-38187723	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
29	rs568785022	chr19:38187734-38187735	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
30	rs541095495	chr19:38187777-38187778	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
31	rs112718703	chr19:38187798-38187799	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
32	rs557326990	chr19:38187803-38187804	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
33	rs140031287	chr19:38187805-38187806	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
34	rs539910432	chr19:38187806-38187807	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
35	rs187946023	chr19:38187814-38187815	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
36	rs143629370	chr19:38187862-38187863	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
37	rs192290556	chr19:38187881-38187882	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
38	rs540858812	chr19:38187906-38187907	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
39	rs559189516	chr19:38187924-38187925	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
40	rs146296003	chr19:38187929-38187930	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs559226926	chr19:38187946-38187947	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs541415717	chr19:38187990-38187991	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs533685511	chr19:38188013-38188014	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs182911172	chr19:38188014-38188015	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs530464967	chr19:38188029-38188030	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs139651004	chr19:38188076-38188077	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs59096662	chr19:38188081-38188082	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2909090	chr19:38188123-38188124	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547236523	chr19:38188125-38188126	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
50	rs187253160	chr19:38188135-38188136	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	3 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
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
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38183200-38208800	Weak transcription	Fetal Heart	heart
2	chr19:38183400-38187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:38183400-38187400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:38183400-38187400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:38183400-38188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:38183400-38190000	Weak transcription	Stomach Mucosa	stomach
7	chr19:38183600-38187200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:38183600-38187200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:38183600-38187400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:38183600-38187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:38183600-38187400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:38183600-38187400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:38183600-38187400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:38183600-38187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:38183600-38187400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:38183600-38187400	Weak transcription	Aorta	Aorta
17	chr19:38183600-38187400	Weak transcription	Brain Germinal Matrix	brain
18	chr19:38183600-38187400	Weak transcription	Fetal Intestine Large	intestine
19	chr19:38183600-38187400	Weak transcription	Fetal Intestine Small	intestine
20	chr19:38183600-38187400	Weak transcription	Fetal Muscle Leg	muscle
21	chr19:38183600-38187400	Weak transcription	Left Ventricle	heart
22	chr19:38183600-38187400	Weak transcription	Ovary	ovary
23	chr19:38183600-38187400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:38183600-38187400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:38183600-38187400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:38183600-38187400	Weak transcription	Right Ventricle	heart
27	chr19:38183600-38187400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:38183600-38187400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:38183600-38187400	Weak transcription	Spleen	Spleen
30	chr19:38183600-38187400	Weak transcription	NHLF	lung
31	chr19:38183600-38187600	Weak transcription	Primary T cells from cord blood	blood
32	chr19:38183600-38187600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:38183600-38187600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:38183600-38187800	Weak transcription	Primary B cells from cord blood	blood
35	chr19:38183600-38187800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:38183600-38188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:38183600-38188800	Weak transcription	Fetal Kidney	kidney
38	chr19:38183600-38189400	Weak transcription	Psoas Muscle	Psoas
39	chr19:38183600-38190000	Weak transcription	Small Intestine	intestine
40	chr19:38183800-38187400	Weak transcription	Fetal Brain Female	brain
41	chr19:38183800-38187400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr19:38183800-38187600	Weak transcription	Placenta	Placenta
43	chr19:38183800-38187600	Weak transcription	Fetal Thymus	thymus
44	chr19:38184200-38187400	Weak transcription	Brain Anterior Caudate	brain
45	chr19:38184200-38187600	Weak transcription	HSMMtube	muscle
46	chr19:38184200-38187800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:38184200-38188600	Weak transcription	Fetal Brain Male	brain
48	chr19:38184200-38201200	Weak transcription	Colonic Mucosa	Colon
49	chr19:38184400-38187400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr19:38184400-38187400	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links