Variant report

Variant	esv3438350
Chromosome Location	chr19:55713797-55716493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55712362..55714079-chr19:55717109..55720117,3	K562	blood:
2	chr19:55703436..55706560-chr19:55709695..55713857,3	K562	blood:
3	chr19:55713511..55716413-chr19:55771406..55774193,2	MCF-7	breast:
4	chr19:55710077..55713946-chr19:55715041..55719503,7	K562	blood:
5	chr19:55677672..55679195-chr19:55716116..55718159,2	MCF-7	breast:
6	chr19:55711944..55714084-chr19:55716574..55718347,2	MCF-7	breast:
7	chr19:55711425..55714079-chr19:55726624..55728744,2	K562	blood:
8	chr19:55704482..55706178-chr19:55716110..55717616,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000080031	chromatin interactions
ENSG00000239137	chromatin interactions
ENSG00000167646	chromatin interactions
ENSG00000267649	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:203 , 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	rs550356008	chr19:55713811-55713812	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372941840	chr19:55713819-55713820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536305793	chr19:55713821-55713822	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552951647	chr19:55713823-55713824	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112291617	chr19:55713826-55713827	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538977714	chr19:55713831-55713832	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35113011	chr19:55713846-55713847	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575826655	chr19:55713848-55713849	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544837832	chr19:55713852-55713853	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs114329352	chr19:55713885-55713886	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs8109428	chr19:55713886-55713887	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542700337	chr19:55713914-55713915	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373852062	chr19:55713930-55713931	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs146718002	chr19:55713960-55713961	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs59851779	chr19:55713961-55713962	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530856144	chr19:55713973-55713974	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200897815	chr19:55713975-55713976	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs397698339	chr19:55713979-55713980	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs202014311	chr19:55713980-55713981	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574326812	chr19:55713988-55713989	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187205142	chr19:55713989-55713990	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544655752	chr19:55713998-55713999	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192126648	chr19:55714024-55714025	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150271594	chr19:55714028-55714029	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs10536691	chr19:55714029-55714030	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs199643446	chr19:55714030-55714031	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs58085926	chr19:55714043-55714044	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561584977	chr19:55714050-55714051	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs550368314	chr19:55714055-55714056	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185645027	chr19:55714071-55714072	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530155726	chr19:55714121-55714122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546653942	chr19:55714124-55714125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6509935	chr19:55714129-55714130	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539052901	chr19:55714133-55714134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8111364	chr19:55714146-55714147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7258115	chr19:55714182-55714183	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538499630	chr19:55714227-55714228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540781657	chr19:55714235-55714236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190570806	chr19:55714236-55714237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575060579	chr19:55714244-55714245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577233123	chr19:55714262-55714263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180809271	chr19:55714266-55714267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553059169	chr19:55714273-55714274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184169478	chr19:55714360-55714361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545026035	chr19:55714402-55714403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561443668	chr19:55714406-55714407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75261116	chr19:55714412-55714413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575497001	chr19:55714420-55714421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544073818	chr19:55714423-55714424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188372854	chr19:55714425-55714426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Hodgkin''s lymphoma	18641027	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
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55691200-55718200	Weak transcription	Right Atrium	heart
2	chr19:55691600-55718200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55691800-55717600	Strong transcription	Fetal Intestine Small	intestine
4	chr19:55692600-55717000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr19:55701200-55718000	Weak transcription	A549	lung
6	chr19:55701400-55718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:55702600-55714800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:55703000-55717800	Weak transcription	Hela-S3	cervix
9	chr19:55704200-55718200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr19:55704800-55717400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr19:55705000-55714200	Strong transcription	HepG2	liver
12	chr19:55705000-55717000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:55707200-55718400	Weak transcription	Brain Angular Gyrus	brain
14	chr19:55707800-55713800	Strong transcription	K562	blood
15	chr19:55707800-55715600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:55707800-55717200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr19:55708800-55720600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr19:55709400-55715800	Weak transcription	Spleen	Spleen
19	chr19:55709600-55713800	Strong transcription	Gastric	stomach
20	chr19:55710400-55718200	Weak transcription	Stomach Mucosa	stomach
21	chr19:55711600-55717200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:55711800-55718200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:55712000-55718000	Weak transcription	Colonic Mucosa	Colon
24	chr19:55712000-55718000	Weak transcription	Pancreas	Pancrea
25	chr19:55712800-55718000	Weak transcription	NHLF	lung
26	chr19:55713000-55715200	Weak transcription	Fetal Stomach	stomach
27	chr19:55713600-55715400	Weak transcription	Fetal Intestine Large	intestine
28	chr19:55713800-55715200	Weak transcription	K562	blood
29	chr19:55713800-55716000	Weak transcription	Gastric	stomach
30	chr19:55714200-55714800	Weak transcription	HepG2	liver
31	chr19:55714800-55715200	Genic enhancers	HepG2	liver
32	chr19:55714800-55717200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr19:55715200-55716400	Strong transcription	K562	blood
34	chr19:55715200-55716600	Strong transcription	Fetal Stomach	stomach
35	chr19:55715200-55717200	Transcr. at gene 5' and 3'	HepG2	liver
36	chr19:55715400-55717200	Strong transcription	Fetal Intestine Large	intestine
37	chr19:55715600-55717800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:55715800-55717000	Genic enhancers	Spleen	Spleen
39	chr19:55716000-55716600	Strong transcription	Gastric	stomach
40	chr19:55716400-55717200	Genic enhancers	K562	blood

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