Variant report

Variant	esv3415057
Chromosome Location	chr19:21748212-21751810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-3	chr19:21748631-21748673	XLOC_013263

Extended variants
information (count: 266 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544616663	chr19:21748216-21748217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375023037	chr19:21748260-21748261	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563035092	chr19:21748268-21748269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541645790	chr19:21748278-21748279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530566291	chr19:21748294-21748295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148835253	chr19:21748341-21748342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143437988	chr19:21748349-21748350	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191830795	chr19:21748350-21748351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116322889	chr19:21748387-21748388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200259104	chr19:21748409-21748410	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563405355	chr19:21748529-21748530	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546844495	chr19:21748537-21748538	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184261118	chr19:21748567-21748568	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532509250	chr19:21748585-21748586	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201420848	chr19:21748664-21748665	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs551031879	chr19:21748685-21748686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145119027	chr19:21748686-21748687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201483222	chr19:21748689-21748690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528377418	chr19:21748706-21748707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111487216	chr19:21748721-21748722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138928361	chr19:21748723-21748724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573266604	chr19:21748724-21748725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113680175	chr19:21748729-21748730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113151492	chr19:21748737-21748738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77289608	chr19:21748763-21748764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548032934	chr19:21748776-21748777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567029379	chr19:21748782-21748783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375844576	chr19:21748813-21748814	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534135060	chr19:21748834-21748835	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79141118	chr19:21748835-21748836	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577161314	chr19:21748845-21748846	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377292808	chr19:21748858-21748859	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111964747	chr19:21748934-21748935	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112298459	chr19:21748945-21748946	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556568641	chr19:21748949-21748950	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375301086	chr19:21748968-21748969	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs118063113	chr19:21748976-21748977	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542670896	chr19:21748987-21748988	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560839786	chr19:21749012-21749013	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1113577	chr19:21749035-21749036	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs371315486	chr19:21749055-21749056	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375575096	chr19:21749063-21749064	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368056090	chr19:21749065-21749066	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370526772	chr19:21749073-21749074	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369470665	chr19:21749079-21749080	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536887858	chr19:21749082-21749083	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374886727	chr19:21749084-21749085	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7343111	chr19:21749085-21749086	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565168017	chr19:21749089-21749090	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367545765	chr19:21749098-21749099	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21738000-21749400	Weak transcription	Left Ventricle	heart
2	chr19:21738000-21751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:21738600-21751600	Weak transcription	Osteobl	bone
4	chr19:21739400-21751200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:21740600-21750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:21742800-21750600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:21743200-21750400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:21743600-21751600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:21744800-21750600	Weak transcription	Colonic Mucosa	Colon
10	chr19:21744800-21750600	Weak transcription	Fetal Kidney	kidney
11	chr19:21745000-21750600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:21745200-21749400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr19:21746600-21748400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:21746600-21749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:21746600-21749200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:21746600-21749200	Weak transcription	Adipose Nuclei	Adipose
17	chr19:21746600-21750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:21746600-21751200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr19:21746600-21751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:21746600-21751600	Weak transcription	Fetal Brain Male	brain
21	chr19:21746800-21750200	Weak transcription	Ovary	ovary
22	chr19:21746800-21750400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:21746800-21750600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr19:21746800-21750800	Weak transcription	Fetal Lung	lung
25	chr19:21747000-21750200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:21747000-21750200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:21747000-21750400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr19:21747200-21751200	Weak transcription	Fetal Stomach	stomach
29	chr19:21747400-21750600	Enhancers	Fetal Intestine Large	intestine
30	chr19:21747600-21749600	Weak transcription	Primary T cells from cord blood	blood
31	chr19:21747800-21750400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr19:21748000-21748400	Strong transcription	Fetal Intestine Small	intestine
33	chr19:21748000-21749000	Weak transcription	Dnd41	blood
34	chr19:21748000-21750600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:21748200-21750400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:21748400-21748600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:21748400-21749200	Weak transcription	Fetal Intestine Small	intestine
38	chr19:21748400-21751600	Weak transcription	Stomach Mucosa	stomach
39	chr19:21748600-21748800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:21748800-21749600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:21749000-21749200	Enhancers	Fetal Heart	heart
42	chr19:21749000-21749800	ZNF genes & repeats	Liver	Liver
43	chr19:21749000-21750600	Enhancers	Dnd41	blood
44	chr19:21749000-21751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:21749000-21751400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:21749200-21749400	Enhancers	Brain Germinal Matrix	brain
47	chr19:21749200-21750000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr19:21749200-21750200	Enhancers	Fetal Intestine Small	intestine
49	chr19:21749200-21750400	Enhancers	Adipose Nuclei	Adipose
50	chr19:21749200-21750800	Weak transcription	Fetal Heart	heart

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