Variant report

Variant	nsv978856
Chromosome Location	chr19:56733438-56736247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:56736088-56736160	GM20000	blood:	n/a	n/a
2	CTCF	chr19:56734380-56734530	HepG2	liver:	n/a	n/a
3	CTCF	chr19:56734420-56734570	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr19:56734500-56734650	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr19:56734434-56734519	MCF-7	breast:	n/a	n/a
6	CTCF	chr19:56734300-56734450	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr19:56734385-56734554	K562	blood:	n/a	n/a
8	CTCF	chr19:56734360-56734510	GM12875	blood:	n/a	n/a
9	CTCF	chr19:56734500-56734650	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr19:56734420-56734570	A549	lung:	n/a	n/a
11	CTCF	chr19:56734300-56734590	HCT-116	colon:	n/a	n/a
12	CTCF	chr19:56734480-56734630	HCT-116	colon:	n/a	n/a
13	CTCF	chr19:56734297-56734627	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr19:56735755-56735795	GM10248	blood:	n/a	n/a
15	CTCF	chr19:56734348-56734591	K562	blood:	n/a	n/a
16	CTCF	chr19:56734436-56734515	GM12891	blood:	n/a	n/a
17	CTCF	chr19:56734400-56734550	GM12870	blood:	n/a	n/a
18	CTCF	chr19:56734437-56734536	GM19239	blood:	n/a	n/a
19	CTCF	chr19:56734441-56734509	MCF-7	breast:	n/a	n/a
20	CTCF	chr19:56734400-56734550	HepG2	liver:	n/a	n/a
21	CTCF	chr19:56734440-56734590	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr19:56734300-56734450	NB4	blood:	n/a	n/a
23	CTCF	chr19:56734402-56734595	K562	blood:	n/a	n/a
24	CTCF	chr19:56734140-56734290	K562	blood:	n/a	n/a
25	CTCF	chr19:56734380-56734530	GM12873	blood:	n/a	n/a
26	CTCF	chr19:56734160-56734310	WI-38	lung:	n/a	n/a
27	CTCF	chr19:56733300-56733450	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr19:56734400-56734650	GM12873	blood:	n/a	n/a
29	CTCF	chr19:56734457-56734488	GM10266	blood:	n/a	n/a
30	CTCF	chr19:56734373-56734556	K562	blood:	n/a	n/a
31	CTCF	chr19:56734273-56734609	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr19:56734420-56734570	K562	blood:	n/a	n/a
33	CTCF	chr19:56734444-56734499	GM13977	blood:	n/a	n/a
34	CTCF	chr19:56734367-56734590	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr19:56734231-56734260	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr19:56734340-56734630	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr19:56734244-56734606	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr19:56734319-56734583	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr19:56734436-56734550	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56717707..56719210-chr19:56732793..56735030,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242411	TF binding region

Extended variants
information (count: 201 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566696787	chr19:56733442-56733443	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142326109	chr19:56733460-56733461	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146066402	chr19:56733461-56733462	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140003734	chr19:56733469-56733470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112797581	chr19:56733473-56733474	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375144691	chr19:56733482-56733483	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575289949	chr19:56733503-56733504	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150193964	chr19:56733522-56733523	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145786370	chr19:56733526-56733527	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554150542	chr19:56733544-56733545	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369166936	chr19:56733549-56733550	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540546268	chr19:56733550-56733551	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541954467	chr19:56733557-56733558	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142635871	chr19:56733564-56733565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150978724	chr19:56733565-56733566	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373460555	chr19:56733567-56733568	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142298937	chr19:56733575-56733576	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376507043	chr19:56733580-56733581	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146091512	chr19:56733590-56733591	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369979986	chr19:56733621-56733622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199734240	chr19:56733623-56733624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371706721	chr19:56733653-56733654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562997139	chr19:56733658-56733659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531717987	chr19:56733659-56733660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141071964	chr19:56733662-56733663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75630877	chr19:56733664-56733665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376227013	chr19:56733665-56733666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs267605713	chr19:56733676-56733677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200579325	chr19:56733687-56733688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562083011	chr19:56733696-56733697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374360055	chr19:56733714-56733715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373548457	chr19:56733732-56733733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180724163	chr19:56733733-56733734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533619610	chr19:56733791-56733792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546899251	chr19:56733795-56733796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369714269	chr19:56733806-56733807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566691777	chr19:56733813-56733814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113925628	chr19:56733823-56733824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568893789	chr19:56733829-56733830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369250787	chr19:56733836-56733837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543357183	chr19:56733850-56733851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537559202	chr19:56733876-56733877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35532102	chr19:56733879-56733880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374400679	chr19:56733880-56733881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553735705	chr19:56733895-56733896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574071620	chr19:56733904-56733905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533578108	chr19:56733908-56733909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377340017	chr19:56733950-56733951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138065226	chr19:56733961-56733962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370671539	chr19:56733971-56733972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56727600-56735800	Weak transcription	A549	lung
2	chr19:56728800-56735800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr19:56729000-56739800	Weak transcription	Aorta	Aorta
4	chr19:56729200-56737800	Weak transcription	Gastric	stomach
5	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
6	chr19:56729400-56733600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:56729400-56733600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr19:56729400-56734600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:56729400-56734800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:56729400-56735000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:56729400-56735600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:56729400-56735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:56729400-56736200	Weak transcription	Adipose Nuclei	Adipose
14	chr19:56729400-56736400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr19:56729400-56736600	Weak transcription	Esophagus	oesophagus
16	chr19:56729400-56736800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:56729600-56735800	Weak transcription	Fetal Brain Female	brain
18	chr19:56729600-56736200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:56730000-56736000	Weak transcription	Fetal Intestine Large	intestine
20	chr19:56730800-56735200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:56730800-56735600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:56731000-56734000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr19:56731400-56735200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:56731400-56736800	Weak transcription	Fetal Intestine Small	intestine
25	chr19:56731800-56735200	Strong transcription	Fetal Stomach	stomach
26	chr19:56731800-56736600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:56732000-56735200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:56732200-56734400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:56732600-56735400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr19:56732600-56735400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr19:56732800-56733600	Strong transcription	HepG2	liver
32	chr19:56732800-56733800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr19:56732800-56733800	Strong transcription	Thymus	Thymus
34	chr19:56732800-56734600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr19:56732800-56735200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr19:56732800-56735400	Strong transcription	Primary T cells from cord blood	blood
37	chr19:56733000-56733600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:56733000-56736600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr19:56733200-56733600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:56733200-56735000	Strong transcription	Liver	Liver
41	chr19:56733200-56735200	Strong transcription	Lung	lung
42	chr19:56733200-56735200	Strong transcription	Ovary	ovary
43	chr19:56733200-56735200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:56733200-56735200	Strong transcription	Spleen	Spleen
45	chr19:56733400-56733800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:56733400-56735200	Strong transcription	Left Ventricle	heart
47	chr19:56733600-56734000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:56733600-56734400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr19:56733600-56734800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:56733600-56738000	Weak transcription	HepG2	liver

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