Variant report

Variant	esv3323592
Chromosome Location	chr19:44806562-44807960
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	BRCA1	chr19:44807607-44807669	GM12878	blood:	n/a	n/a
2	CTCF	chr19:44807620-44807770	A549	lung:	n/a	n/a
3	CTCF	chr19:44806520-44806670	AG10803	skin:	n/a	n/a
4	HCFC1	chr19:44807956-44809883	Hela-S3	cervix:	n/a	n/a
5	MAZ	chr19:44807727-44807823	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:44806758-44806890	MCF-7	breast:	n/a	n/a
7	STAT1	chr19:44807384-44807794	Hela-S3	cervix:	n/a	chr19:44807570-44807581 chr19:44807572-44807580 chr19:44807588-44807599

No.	Distal block	Cell Line	Cell type
1	chr19:44619122..44621530-chr19:44807585..44810251,2	K562	blood:
2	chr19:44762662..44765169-chr19:44806024..44808707,2	K562	blood:
3	chr19:44763689..44765733-chr19:44807177..44810075,2	MCF-7	breast:
4	chr19:44792368..44795343-chr19:44804228..44806715,3	K562	blood:

Variant related genes	Relation type
ZNF235	TF binding region
ENSG00000159915	chromatin interactions
ENSG00000159917	chromatin interactions
ENSG00000270679	chromatin interactions
ENSG00000256294	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190364443	chr19:44806581-44806582	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs147148300	chr19:44806632-44806633	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs558566474	chr19:44806644-44806645	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs150398971	chr19:44806665-44806666	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs113351232	chr19:44806705-44806706	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs536068528	chr19:44806743-44806744	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112162438	chr19:44806792-44806793	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2609884	chr19:44806807-44806808	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543584988	chr19:44806885-44806886	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs71947515	chr19:44806921-44806922	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541665807	chr19:44806922-44806923	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28435692	chr19:44806926-44806927	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28662854	chr19:44806927-44806928	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs28410749	chr19:44806938-44806939	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs36120650	chr19:44806941-44806942	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574838179	chr19:44806942-44806943	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs28473364	chr19:44806962-44806963	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs28722927	chr19:44807015-44807016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs72299253	chr19:44807030-44807031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557006850	chr19:44807033-44807034	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554857465	chr19:44807034-44807035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs28482350	chr19:44807056-44807057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376353848	chr19:44807066-44807067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs56298248	chr19:44807080-44807081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12977614	chr19:44807081-44807082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12977120	chr19:44807087-44807088	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10406242	chr19:44807091-44807092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558722367	chr19:44807094-44807095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553190061	chr19:44807132-44807133	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12979233	chr19:44807135-44807136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12977174	chr19:44807137-44807138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562702396	chr19:44807142-44807143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12977181	chr19:44807144-44807145	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12977182	chr19:44807145-44807146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563316274	chr19:44807151-44807152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12977418	chr19:44807152-44807153	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12979260	chr19:44807154-44807155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs118202846	chr19:44807173-44807174	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs36190574	chr19:44807194-44807195	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189380534	chr19:44807216-44807217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551687276	chr19:44807233-44807234	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564901898	chr19:44807241-44807242	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527306034	chr19:44807255-44807256	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10406673	chr19:44807263-44807264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs58789481	chr19:44807264-44807265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs66715883	chr19:44807265-44807266	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536297853	chr19:44807272-44807273	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559740319	chr19:44807278-44807279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570249955	chr19:44807280-44807281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569903966	chr19:44807296-44807297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44777000-44807000	ZNF genes & repeats	Liver	Liver
2	chr19:44790400-44806800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:44790400-44808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44791200-44806800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:44792400-44807600	Weak transcription	HUVEC	blood vessel
6	chr19:44792800-44807600	Weak transcription	NH-A	brain
7	chr19:44792800-44808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44794400-44806800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:44794600-44807600	Strong transcription	Primary B cells from cord blood	blood
10	chr19:44796800-44806800	Strong transcription	Brain Germinal Matrix	brain
11	chr19:44798400-44807000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:44798400-44807400	Strong transcription	Dnd41	blood
13	chr19:44798600-44806800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:44799200-44806800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:44799400-44806800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:44799400-44806800	Strong transcription	Fetal Kidney	kidney
17	chr19:44799600-44806800	Strong transcription	Placenta	Placenta
18	chr19:44799600-44806800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:44799600-44807600	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:44799800-44807400	Weak transcription	K562	blood
21	chr19:44799800-44807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:44800000-44806800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:44800000-44806800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:44800000-44806800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:44800200-44806800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:44800200-44806800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:44800400-44806800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:44800400-44806800	Strong transcription	Brain Anterior Caudate	brain
29	chr19:44800800-44806800	Strong transcription	Fetal Muscle Leg	muscle
30	chr19:44801000-44807600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:44801200-44806800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:44801200-44806800	Strong transcription	Fetal Thymus	thymus
33	chr19:44801200-44806800	Strong transcription	Thymus	Thymus
34	chr19:44801400-44806600	Strong transcription	Fetal Lung	lung
35	chr19:44801400-44807000	Strong transcription	Fetal Intestine Large	intestine
36	chr19:44801400-44807400	Weak transcription	NHLF	lung
37	chr19:44801400-44807600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:44801400-44807600	Weak transcription	HSMM	muscle
39	chr19:44801600-44806600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:44801600-44806800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:44801600-44806800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:44801600-44806800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr19:44802000-44806800	Strong transcription	Primary T cells from cord blood	blood
44	chr19:44802200-44806800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:44802200-44806800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:44802200-44807600	Strong transcription	Fetal Stomach	stomach
47	chr19:44802600-44807400	Weak transcription	HMEC	breast
48	chr19:44802800-44807000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:44802800-44807600	Weak transcription	Psoas Muscle	Psoas
50	chr19:44802800-44807600	Weak transcription	Stomach Mucosa	stomach

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