Variant report

Variant	nsv1063254
Chromosome Location	chr19:23633911-23665874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 787 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:787 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1842224	chr19:23643430-23643431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1842225	chr19:23643457-23643458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559181988	chr19:23643475-23643476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577479156	chr19:23643481-23643482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544600869	chr19:23643491-23643492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371398628	chr19:23643510-23643511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12972120	chr19:23643523-23643524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542202979	chr19:23643527-23643528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560239645	chr19:23643533-23643534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184221473	chr19:23643549-23643550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568710843	chr19:23643595-23643596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571128578	chr19:23643599-23643600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs67501428	chr19:23643629-23643630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550612761	chr19:23643635-23643636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528297843	chr19:23643666-23643667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550713002	chr19:23643717-23643718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546386239	chr19:23643720-23643721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535916010	chr19:23643729-23643730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554585681	chr19:23643740-23643741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141600115	chr19:23643748-23643749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150715715	chr19:23643760-23643761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76759016	chr19:23643783-23643784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs649627	chr19:23643786-23643787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577369284	chr19:23643803-23643804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10415791	chr19:23643810-23643811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73553169	chr19:23643824-23643825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577186787	chr19:23643825-23643826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570329710	chr19:23643847-23643848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541891453	chr19:23643874-23643875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560127580	chr19:23643891-23643892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527648536	chr19:23643898-23643899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7254213	chr19:23643913-23643914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188515085	chr19:23643945-23643946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553313053	chr19:23643956-23643957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539121635	chr19:23643974-23643975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140471843	chr19:23643999-23644000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144421738	chr19:23644039-23644040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529988536	chr19:23644043-23644044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369605648	chr19:23644058-23644059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79145543	chr19:23644078-23644079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79561178	chr19:23644088-23644089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533723970	chr19:23644135-23644136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575866345	chr19:23644136-23644137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370516626	chr19:23644170-23644171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147838312	chr19:23644187-23644188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145106496	chr19:23648003-23648004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4932856	chr19:23648027-23648028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577333536	chr19:23648031-23648032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549441412	chr19:23648041-23648042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4932857	chr19:23648043-23648044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23643400-23644000	Enhancers	Placenta	Placenta
2	chr19:23643400-23644200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:23643400-23644200	Enhancers	HMEC	breast
4	chr19:23648000-23653000	Weak transcription	Lung	lung
5	chr19:23648200-23651400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:23648400-23652000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:23650800-23651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:23652400-23653800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:23652400-23654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:23652800-23654600	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:23653000-23654200	ZNF genes & repeats	Lung	lung
12	chr19:23653000-23654600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr19:23653200-23654200	ZNF genes & repeats	Placenta	Placenta
14	chr19:23653200-23654400	ZNF genes & repeats	Fetal Stomach	stomach
15	chr19:23653200-23654800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr19:23653400-23653600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:23653400-23654400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr19:23653400-23654400	Active TSS	Colonic Mucosa	Colon
19	chr19:23653400-23654400	ZNF genes & repeats	Esophagus	oesophagus
20	chr19:23653600-23653800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:23653600-23653800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:23653600-23654000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:23653600-23654000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr19:23653600-23654000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr19:23653600-23654200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr19:23653600-23654400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:23653600-23654400	ZNF genes & repeats	Pancreas	Pancrea
28	chr19:23653600-23654400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr19:23653600-23654600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:23653800-23654000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:23653800-23654000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr19:23653800-23654000	Bivalent/Poised TSS	Left Ventricle	heart
33	chr19:23653800-23654200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:23653800-23654200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:23653800-23654200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
36	chr19:23653800-23654200	Flanking Bivalent TSS/Enh	NHEK	skin
37	chr19:23653800-23654400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr19:23653800-23654400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:23653800-23654400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
40	chr19:23653800-23654400	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr19:23653800-23654400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
42	chr19:23653800-23654400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr19:23653800-23654400	Active TSS	Fetal Kidney	kidney
44	chr19:23653800-23654400	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr19:23653800-23654400	Active TSS	Rectal Smooth Muscle	rectum
46	chr19:23653800-23654400	Active TSS	Right Atrium	heart
47	chr19:23653800-23654400	ZNF genes & repeats	HMEC	breast
48	chr19:23653800-23654600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr19:23653800-23654600	Enhancers	Fetal Brain Male	brain
50	chr19:23653800-23654600	Active TSS	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links