Variant report

Variant	nsv9690
Chromosome Location	chr19:23824265-23834203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:23829651..23831958-chr19:23839297..23841446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197372	chromatin interactions

Extended variants
information (count: 295 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:295 , 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	rs555178025	chr19:23828033-23828034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573380351	chr19:23828041-23828042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12982090	chr19:23828055-23828056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113903873	chr19:23828057-23828058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577574593	chr19:23828063-23828064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12980325	chr19:23828115-23828116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563993001	chr19:23828129-23828130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12980344	chr19:23828130-23828131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543226451	chr19:23828156-23828157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575027055	chr19:23828225-23828226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34180554	chr19:23828249-23828250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377493166	chr19:23828254-23828255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186677199	chr19:23828261-23828262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546791747	chr19:23828267-23828268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565238678	chr19:23828268-23828269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202063924	chr19:23828284-23828285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532424735	chr19:23828296-23828297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370889335	chr19:23828302-23828303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12981012	chr19:23828308-23828309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12981435	chr19:23828317-23828318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12980803	chr19:23828321-23828322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548764854	chr19:23828331-23828332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559829256	chr19:23828363-23828364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35345186	chr19:23828364-23828365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs552794797	chr19:23828375-23828376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367575834	chr19:23828406-23828407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532125209	chr19:23828407-23828408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577537128	chr19:23828458-23828459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545465076	chr19:23828464-23828465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189510695	chr19:23828472-23828473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557028250	chr19:23828478-23828479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575984622	chr19:23828489-23828490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78077817	chr19:23828501-23828502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561429607	chr19:23828530-23828531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573363188	chr19:23828533-23828534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181079674	chr19:23828547-23828548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62120165	chr19:23828577-23828578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148579093	chr19:23828612-23828613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34068360	chr19:23828613-23828614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55812686	chr19:23828641-23828642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397936802	chr19:23828648-23828649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10417223	chr19:23828724-23828725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs4378735	chr19:23828755-23828756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375158656	chr19:23828773-23828774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530705700	chr19:23828812-23828813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548874396	chr19:23828846-23828847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567075827	chr19:23828856-23828857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185956604	chr19:23828887-23828888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546639169	chr19:23828906-23828907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571237288	chr19:23828911-23828912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23828000-23838800	Weak transcription	Stomach Mucosa	stomach
2	chr19:23831400-23831800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr19:23831800-23832400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr19:23832200-23835600	Weak transcription	HSMM	muscle
5	chr19:23832400-23833000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:23832400-23833600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:23832600-23834200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:23832600-23835400	Weak transcription	Fetal Brain Male	brain
9	chr19:23832600-23865800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:23832800-23833000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:23832800-23833000	ZNF genes & repeats	Placenta	Placenta
12	chr19:23832800-23833000	Enhancers	K562	blood
13	chr19:23833000-23835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:23833000-23835200	Weak transcription	Fetal Lung	lung
15	chr19:23833000-23836400	Weak transcription	Placenta	Placenta
16	chr19:23833000-23836600	Weak transcription	K562	blood
17	chr19:23833200-23836200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:23833400-23849800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:23833600-23834200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:23833600-23835200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:23833800-23835400	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:23833800-23836400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:23833800-23849600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:23834000-23842600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr19:23834200-23834600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links