Variant report

Variant	nsv978812
Chromosome Location	chr19:37821277-37824004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr19:37821281-37821290	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:37823267-37823466	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:37823248-37823493	A549	lung:	n/a	n/a
4	CTCF	chr19:37821469-37821479	LNCaP	prostate:	n/a	n/a
5	CTCF	chr19:37821416-37821447	LNCaP	prostate:	n/a	n/a
6	FOXA2	chr19:37822161-37822744	A549	lung:	n/a	n/a
7	GATA3	chr19:37823729-37823953	SH-SY5Y	brain:	n/a	n/a
8	NR2F2	chr19:37822395-37822591	K562	blood:	n/a	n/a
9	POLR2A	chr19:37821884-37822119	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37808606..37810203-chr19:37820197..37822284,2	MCF-7	breast:
2	chr19:37740273..37743128-chr19:37823150..37825762,2	MCF-7	breast:
3	chr19:37808613..37811422-chr19:37818380..37821776,3	MCF-7	breast:
4	chr19:37822549..37827431-chr19:37836072..37838954,4	MCF-7	breast:
5	chr19:37821641..37823178-chr19:37824253..37826285,2	MCF-7	breast:

No data

Variant related genes	Relation type
HKR1	TF binding region
ENSG00000267682	TF binding region
ENSG00000226686	chromatin interactions
ENSG00000181666	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576631332	chr19:37821282-37821283	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs543137765	chr19:37821309-37821310	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564668416	chr19:37821450-37821451	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77864628	chr19:37821498-37821499	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532064658	chr19:37821502-37821503	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540712093	chr19:37821597-37821598	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571131510	chr19:37821611-37821612	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559299094	chr19:37821654-37821655	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529949440	chr19:37821697-37821698	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs8107363	chr19:37821720-37821721	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569887256	chr19:37821730-37821731	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370321026	chr19:37821733-37821734	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570251517	chr19:37821738-37821739	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530753321	chr19:37821828-37821829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375148675	chr19:37821829-37821830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552384761	chr19:37821964-37821965	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570997813	chr19:37821982-37821983	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535113135	chr19:37822037-37822038	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs531290077	chr19:37822051-37822052	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs62109236	chr19:37822067-37822068	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375191834	chr19:37822068-37822069	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs557058180	chr19:37822089-37822090	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs71177440	chr19:37822108-37822109	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139582353	chr19:37822115-37822116	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557607376	chr19:37822117-37822118	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142005460	chr19:37822134-37822135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575512752	chr19:37822201-37822202	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs183714731	chr19:37822260-37822261	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557923217	chr19:37822284-37822285	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112447286	chr19:37822287-37822288	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs371574024	chr19:37822382-37822383	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541076190	chr19:37822515-37822516	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559095798	chr19:37822536-37822537	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112073823	chr19:37822594-37822595	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541438265	chr19:37822602-37822603	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563607963	chr19:37822630-37822631	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376400423	chr19:37822647-37822648	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs147807414	chr19:37822668-37822669	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369134802	chr19:37822693-37822694	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564225031	chr19:37822717-37822718	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528584744	chr19:37822870-37822871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547033767	chr19:37822921-37822922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs367650271	chr19:37822935-37822936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568386470	chr19:37823050-37823051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535372594	chr19:37823068-37823069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535873379	chr19:37823070-37823071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547770447	chr19:37823077-37823078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376569641	chr19:37823130-37823131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550548565	chr19:37823144-37823145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569252024	chr19:37823198-37823199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37809200-37824800	Weak transcription	Stomach Mucosa	stomach
2	chr19:37809400-37825000	Weak transcription	Fetal Thymus	thymus
3	chr19:37809400-37825000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:37809600-37824400	Weak transcription	NHDF-Ad	bronchial
5	chr19:37809600-37825000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:37810000-37825000	Weak transcription	Hela-S3	cervix
7	chr19:37810200-37821800	ZNF genes & repeats	A549	lung
8	chr19:37810400-37821600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:37810600-37824400	Weak transcription	Small Intestine	intestine
10	chr19:37810600-37824800	Weak transcription	Fetal Heart	heart
11	chr19:37810800-37824200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:37811000-37821400	Strong transcription	Fetal Stomach	stomach
13	chr19:37811600-37825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:37811800-37821600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:37813000-37821400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr19:37813200-37821400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:37813200-37821400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:37813200-37821400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:37813200-37821400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:37813200-37821800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:37813400-37821600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:37813400-37821600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:37813400-37821600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr19:37813600-37821400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:37813800-37821400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:37813800-37821600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:37813800-37821800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:37813800-37821800	Strong transcription	Fetal Intestine Large	intestine
29	chr19:37814000-37821600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:37814400-37821600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:37814600-37821400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:37814600-37821400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:37814600-37821400	Strong transcription	Placenta	Placenta
34	chr19:37814600-37821400	ZNF genes & repeats	Lung	lung
35	chr19:37815000-37824800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr19:37815800-37821600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr19:37816000-37821400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:37816000-37821400	Strong transcription	Fetal Muscle Leg	muscle
39	chr19:37816000-37821400	Strong transcription	Ovary	ovary
40	chr19:37816800-37825000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:37817000-37825000	Weak transcription	Gastric	stomach
42	chr19:37817200-37824800	Weak transcription	Psoas Muscle	Psoas
43	chr19:37818400-37821400	Strong transcription	Primary B cells from cord blood	blood
44	chr19:37818600-37821800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:37818800-37821400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:37818800-37821600	ZNF genes & repeats	Liver	Liver
47	chr19:37819000-37821400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:37819000-37821400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr19:37819000-37821400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:37819200-37821400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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