Variant report

Variant	nsv9721
Chromosome Location	chr19:39281857-39287128
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	chr19:39263336..39266472-chr19:39281321..39283014,3	K562	blood:

Variant related genes	Relation type
ENSG00000205076	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201307108	chr19:39281862-39281863	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs199598749	chr19:39282050-39282051	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541967287	chr19:39282065-39282066	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563657269	chr19:39282100-39282101	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575574071	chr19:39282260-39282261	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200453968	chr19:39282609-39282610	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201749097	chr19:39282792-39282793	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368656848	chr19:39282846-39282847	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532170561	chr19:39282856-39282857	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547226947	chr19:39282862-39282863	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559128179	chr19:39282874-39282875	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529693911	chr19:39282945-39282946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs8110658	chr19:39282956-39282957	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs375827345	chr19:39282981-39282982	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370258858	chr19:39282998-39282999	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552814698	chr19:39283024-39283025	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs8110778	chr19:39283035-39283036	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs374985072	chr19:39283143-39283144	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs12980032	chr19:39283144-39283145	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191453062	chr19:39283148-39283149	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs8111887	chr19:39283190-39283191	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs568676920	chr19:39283204-39283205	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs535919144	chr19:39283247-39283248	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs557192365	chr19:39283273-39283274	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs575581141	chr19:39283298-39283299	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs549502462	chr19:39283311-39283312	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs545923070	chr19:39283335-39283336	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs12980315	chr19:39283345-39283346	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371813465	chr19:39283365-39283366	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs10422547	chr19:39283371-39283372	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs142255237	chr19:39283395-39283396	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs10422360	chr19:39283401-39283402	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs10422733	chr19:39283427-39283428	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs151280237	chr19:39283435-39283436	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs568059194	chr19:39283452-39283453	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs563266072	chr19:39283477-39283478	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs558257782	chr19:39283504-39283505	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs530525620	chr19:39283555-39283556	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs10424200	chr19:39283558-39283559	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs570471323	chr19:39283570-39283571	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs369030134	chr19:39283591-39283592	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs547341715	chr19:39283596-39283597	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs57457466	chr19:39283633-39283634	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs535706598	chr19:39283642-39283643	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551314497	chr19:39283668-39283669	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11669239	chr19:39283673-39283674	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs369318770	chr19:39283697-39283698	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10423052	chr19:39283719-39283720	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs553215317	chr19:39283722-39283723	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10423065	chr19:39283737-39283738	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39265600-39283000	Weak transcription	Spleen	Spleen
2	chr19:39276200-39283000	Weak transcription	Pancreas	Pancrea
3	chr19:39277200-39283200	Weak transcription	NH-A	brain
4	chr19:39277800-39282800	Weak transcription	Placenta	Placenta
5	chr19:39277800-39283000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:39277800-39283000	Weak transcription	Right Ventricle	heart
7	chr19:39278000-39283000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:39279000-39283400	Weak transcription	HSMM	muscle
9	chr19:39279400-39283400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:39279600-39282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:39279600-39282800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:39279600-39283000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:39279600-39283000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:39279600-39283200	Weak transcription	HepG2	liver
15	chr19:39279600-39283400	Weak transcription	A549	lung
16	chr19:39279800-39282800	Weak transcription	Fetal Muscle Leg	muscle
17	chr19:39279800-39282800	Weak transcription	HMEC	breast
18	chr19:39279800-39283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:39279800-39291600	Weak transcription	Stomach Mucosa	stomach
20	chr19:39281200-39282200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr19:39281400-39282200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr19:39281400-39283000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:39281600-39283000	Weak transcription	Esophagus	oesophagus
24	chr19:39281600-39283000	Weak transcription	NHEK	skin
25	chr19:39281800-39282000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr19:39281800-39282000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr19:39281800-39282200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr19:39281800-39282200	Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr19:39281800-39282200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:39281800-39282200	Active TSS	Brain Anterior Caudate	brain
31	chr19:39281800-39282200	Active TSS	Brain Cingulate Gyrus	brain
32	chr19:39281800-39282200	Enhancers	Colonic Mucosa	Colon
33	chr19:39281800-39282200	Active TSS	Colon Smooth Muscle	Colon
34	chr19:39281800-39282200	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr19:39281800-39282200	Active TSS	Fetal Muscle Trunk	muscle
36	chr19:39281800-39282200	Active TSS	Fetal Thymus	thymus
37	chr19:39281800-39282200	Active TSS	Rectal Smooth Muscle	rectum
38	chr19:39281800-39282200	Active TSS	Stomach Smooth Muscle	stomach
39	chr19:39281800-39282800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr19:39281800-39282800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr19:39281800-39282800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:39281800-39283000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr19:39281800-39283000	Active TSS	Fetal Intestine Large	intestine
44	chr19:39281800-39283000	Active TSS	Fetal Intestine Small	intestine
45	chr19:39281800-39283000	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr19:39281800-39283200	Active TSS	Duodenum Mucosa	Duodenum
47	chr19:39282000-39282200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:39282000-39282400	Enhancers	Primary B cells from peripheral blood	blood
49	chr19:39282000-39283000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr19:39282200-39282800	Weak transcription	Rectal Mucosa Donor 29	rectum

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