Variant report

Variant	nsv578955
Chromosome Location	chr19:21750541-21751778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12611250	chr19:21750541-21750542	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556489517	chr19:21750553-21750554	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574690068	chr19:21750555-21750556	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs542188677	chr19:21750568-21750569	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73929322	chr19:21750602-21750603	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs201294825	chr19:21750633-21750634	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs112904401	chr19:21750635-21750636	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs368397466	chr19:21750636-21750637	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs371897432	chr19:21750639-21750640	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs7259708	chr19:21750648-21750649	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs36179772	chr19:21750649-21750650	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs558926047	chr19:21750669-21750670	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs545866954	chr19:21750670-21750671	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs73025870	chr19:21750711-21750712	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs375025023	chr19:21750726-21750727	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs143131149	chr19:21750728-21750729	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs36161008	chr19:21750731-21750732	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs185439493	chr19:21750747-21750748	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs190151483	chr19:21750766-21750767	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs140173594	chr19:21750772-21750773	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs537796639	chr19:21750778-21750779	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs144000980	chr19:21750787-21750788	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs529588051	chr19:21750882-21750883	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370681940	chr19:21750936-21750937	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548154017	chr19:21750938-21750939	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566308743	chr19:21750939-21750940	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533790634	chr19:21750964-21750965	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375110162	chr19:21750981-21750982	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs146412828	chr19:21750982-21750983	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs368062022	chr19:21751021-21751022	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373646382	chr19:21751027-21751028	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372155929	chr19:21751040-21751041	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs141440622	chr19:21751048-21751049	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181422413	chr19:21751078-21751079	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574700312	chr19:21751082-21751083	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145138665	chr19:21751103-21751104	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs74167860	chr19:21751144-21751145	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs572301596	chr19:21751145-21751146	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs542096753	chr19:21751155-21751156	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs367826085	chr19:21751161-21751162	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372296658	chr19:21751193-21751194	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376728813	chr19:21751204-21751205	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs148992091	chr19:21751206-21751207	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564228003	chr19:21751236-21751237	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs541030594	chr19:21751257-21751258	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576172602	chr19:21751278-21751279	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369464704	chr19:21751285-21751286	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs11085463	chr19:21751302-21751303	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs10854048	chr19:21751314-21751315	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs78943207	chr19:21751322-21751323	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	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:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21738000-21751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:21738600-21751600	Weak transcription	Osteobl	bone
3	chr19:21739400-21751200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:21740600-21750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:21742800-21750600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:21743600-21751600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:21744800-21750600	Weak transcription	Colonic Mucosa	Colon
8	chr19:21744800-21750600	Weak transcription	Fetal Kidney	kidney
9	chr19:21745000-21750600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:21746600-21750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:21746600-21751200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr19:21746600-21751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:21746600-21751600	Weak transcription	Fetal Brain Male	brain
14	chr19:21746800-21750600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr19:21746800-21750800	Weak transcription	Fetal Lung	lung
16	chr19:21747200-21751200	Weak transcription	Fetal Stomach	stomach
17	chr19:21747400-21750600	Enhancers	Fetal Intestine Large	intestine
18	chr19:21748000-21750600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:21748400-21751600	Weak transcription	Stomach Mucosa	stomach
20	chr19:21749000-21750600	Enhancers	Dnd41	blood
21	chr19:21749000-21751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:21749000-21751400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:21749200-21750800	Weak transcription	Fetal Heart	heart
24	chr19:21749400-21750800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr19:21749600-21750600	Enhancers	Primary T cells from cord blood	blood
26	chr19:21749800-21750600	Weak transcription	Liver	Liver
27	chr19:21749800-21750600	Enhancers	Thymus	Thymus
28	chr19:21749800-21752800	Active TSS	Duodenum Mucosa	Duodenum
29	chr19:21750000-21750600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:21750200-21750600	Weak transcription	Fetal Intestine Small	intestine
31	chr19:21750200-21750600	Active TSS	Ovary	ovary
32	chr19:21750200-21750600	Weak transcription	NHDF-Ad	bronchial
33	chr19:21750200-21750800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:21750200-21750800	Active TSS	Brain Anterior Caudate	brain
35	chr19:21750200-21750800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr19:21750200-21750800	Active TSS	Brain Substantia Nigra	brain
37	chr19:21750200-21750800	Active TSS	Pancreas	Pancrea
38	chr19:21750200-21750800	Active TSS	Psoas Muscle	Psoas
39	chr19:21750200-21750800	Active TSS	Right Atrium	heart
40	chr19:21750200-21752600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:21750400-21750600	Active TSS	Primary B cells from peripheral blood	blood
42	chr19:21750400-21750600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:21750400-21750600	Active TSS	Adipose Nuclei	Adipose
44	chr19:21750400-21750600	Active TSS	Brain Hippocampus Middle	brain
45	chr19:21750400-21750600	Active TSS	Esophagus	oesophagus
46	chr19:21750400-21750600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr19:21750400-21750600	Active TSS	Placenta	Placenta
48	chr19:21750400-21750600	Flanking Active TSS	Left Ventricle	heart
49	chr19:21750400-21750800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr19:21750400-21750800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links