Variant report

Variant	esv3363028
Chromosome Location	chr19:18242077-18242547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18232566..18235224-chr19:18241350..18243114,2	K562	blood:
2	chr19:18231348..18237007-chr19:18238660..18244393,9	K562	blood:
3	chr19:18227532..18230365-chr19:18238689..18243029,3	K562	blood:

Variant related genes	Relation type
ENSG00000099308	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543531196	chr19:18242078-18242079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373313195	chr19:18242082-18242083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563751065	chr19:18242121-18242122	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138602176	chr19:18242135-18242136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141593487	chr19:18242145-18242146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs62123601	chr19:18242146-18242147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368524232	chr19:18242164-18242165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527552469	chr19:18242168-18242169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368518486	chr19:18242176-18242177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567451178	chr19:18242200-18242201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11667794	chr19:18242211-18242212	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529823012	chr19:18242237-18242238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549606596	chr19:18242238-18242239	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569672170	chr19:18242250-18242251	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538265658	chr19:18242251-18242252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558082996	chr19:18242262-18242263	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150688309	chr19:18242292-18242293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534970185	chr19:18242293-18242294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192571321	chr19:18242298-18242299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184490548	chr19:18242307-18242308	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543938989	chr19:18242377-18242378	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557186159	chr19:18242379-18242380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189162848	chr19:18242396-18242397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12979193	chr19:18242402-18242403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12985170	chr19:18242411-18242412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12985171	chr19:18242412-18242413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12971847	chr19:18242421-18242422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12985204	chr19:18242445-18242446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12979238	chr19:18242462-18242463	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12971883	chr19:18242463-18242464	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12971900	chr19:18242478-18242479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189042165	chr19:18242482-18242483	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18229400-18243000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:18229800-18243000	Weak transcription	Fetal Kidney	kidney
3	chr19:18230200-18246600	Weak transcription	Hela-S3	cervix
4	chr19:18230200-18247200	Weak transcription	NHEK	skin
5	chr19:18230600-18243000	Weak transcription	K562	blood
6	chr19:18230800-18246200	Strong transcription	Fetal Intestine Small	intestine
7	chr19:18230800-18262000	Weak transcription	Dnd41	blood
8	chr19:18231000-18243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:18231000-18243000	Weak transcription	Fetal Brain Male	brain
10	chr19:18231000-18262200	Weak transcription	HMEC	breast
11	chr19:18231400-18262200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr19:18231400-18262400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:18231800-18246200	Strong transcription	Fetal Intestine Large	intestine
14	chr19:18232000-18244000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:18232000-18262200	Strong transcription	Brain Hippocampus Middle	brain
16	chr19:18232200-18246400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr19:18232200-18260000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:18232200-18260000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:18232200-18261800	Strong transcription	Fetal Stomach	stomach
20	chr19:18232400-18260600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:18232600-18243600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:18232600-18262200	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr19:18233200-18261800	Strong transcription	Thymus	Thymus
24	chr19:18235400-18261600	Strong transcription	Spleen	Spleen
25	chr19:18235600-18248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:18235600-18260800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:18236200-18245000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:18238400-18243800	Strong transcription	Brain Germinal Matrix	brain
29	chr19:18238400-18245800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:18238400-18258800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:18238400-18258800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:18238400-18259400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:18238400-18259400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:18238400-18261400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:18238600-18245200	Strong transcription	Liver	Liver
36	chr19:18238600-18245400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr19:18238600-18245800	Strong transcription	Pancreas	Pancrea
38	chr19:18238600-18248400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:18238600-18250200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:18238600-18259600	Strong transcription	Brain Substantia Nigra	brain
41	chr19:18238600-18259600	Strong transcription	Fetal Muscle Leg	muscle
42	chr19:18238600-18260000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:18238600-18260000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:18238600-18260200	Strong transcription	Fetal Brain Female	brain
45	chr19:18238600-18260600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:18238600-18260600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr19:18238800-18243400	Strong transcription	Ovary	ovary
48	chr19:18238800-18243600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:18238800-18243600	Strong transcription	Gastric	stomach
50	chr19:18238800-18246400	Strong transcription	Colonic Mucosa	Colon

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