Variant report

Variant	esv3339756
Chromosome Location	chr19:40370712-40374910
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	chr19:40371880..40372846-chr19:40476486..40477439,2	MCF-7	breast:
2	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000013275	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:204 , 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	rs567994394	chr19:40370755-40370756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535416937	chr19:40370841-40370842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139085580	chr19:40370917-40370918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556651100	chr19:40370989-40370990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568995881	chr19:40371006-40371007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539493299	chr19:40371021-40371022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372225793	chr19:40371036-40371037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535260612	chr19:40371084-40371085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573072047	chr19:40371101-40371102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540183878	chr19:40371104-40371105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141637642	chr19:40371105-40371106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555617925	chr19:40371156-40371157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187068244	chr19:40371163-40371164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573817700	chr19:40371256-40371257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542226757	chr19:40371313-40371314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563293194	chr19:40371391-40371392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374502490	chr19:40371666-40371667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530923446	chr19:40371706-40371707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147069682	chr19:40371720-40371721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367670672	chr19:40371723-40371724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372204328	chr19:40371756-40371757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375320475	chr19:40371758-40371759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201803202	chr19:40371857-40371858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369069768	chr19:40371900-40371901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372408487	chr19:40371930-40371931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553375436	chr19:40371938-40371939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376964558	chr19:40371953-40371954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4029209	chr19:40371971-40371972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528666002	chr19:40371974-40371975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373400586	chr19:40371984-40371985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375078199	chr19:40372000-40372001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547012895	chr19:40372012-40372013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377061841	chr19:40372039-40372040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529533702	chr19:40372057-40372058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550598880	chr19:40372080-40372081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371354351	chr19:40372081-40372082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369061246	chr19:40372137-40372138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568860120	chr19:40372140-40372141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372981679	chr19:40372141-40372142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539587766	chr19:40372157-40372158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557865102	chr19:40372166-40372167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566707425	chr19:40372170-40372171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534004628	chr19:40372173-40372174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555239948	chr19:40372184-40372185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573880975	chr19:40372188-40372189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1808681	chr19:40372189-40372190	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545398088	chr19:40372195-40372196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2354776	chr19:40372211-40372212	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62106951	chr19:40372234-40372235	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs59470314	chr19:40372288-40372289	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
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
Wilms tumour	21544195	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
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
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40350400-40372200	Weak transcription	Dnd41	blood
2	chr19:40352000-40372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr19:40352400-40372400	Weak transcription	Fetal Intestine Large	intestine
4	chr19:40354200-40370800	Weak transcription	Fetal Brain Female	brain
5	chr19:40354600-40372200	Weak transcription	HepG2	liver
6	chr19:40355200-40372200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:40358400-40372200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:40361000-40372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:40361200-40374000	Weak transcription	Pancreas	Pancrea
10	chr19:40364400-40372200	Weak transcription	Right Atrium	heart
11	chr19:40364400-40372400	Weak transcription	Gastric	stomach
12	chr19:40365800-40372200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:40365800-40372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:40366200-40372800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr19:40366600-40372400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr19:40367000-40372400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr19:40367000-40373400	Weak transcription	Fetal Stomach	stomach
18	chr19:40368000-40371400	Strong transcription	Fetal Intestine Small	intestine
19	chr19:40368600-40371200	Strong transcription	Primary T cells from cord blood	blood
20	chr19:40368800-40371200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:40369800-40375800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
24	chr19:40370000-40371600	Weak transcription	Stomach Mucosa	stomach
25	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
27	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine
28	chr19:40372200-40372400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:40372200-40372400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:40372200-40372400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:40372200-40372400	ZNF genes & repeats	Right Atrium	heart
32	chr19:40372200-40372600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr19:40372200-40372600	Enhancers	Primary B cells from peripheral blood	blood
34	chr19:40372200-40372600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:40372200-40372600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr19:40372200-40372600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr19:40372200-40372600	Enhancers	A549	lung
38	chr19:40372200-40372600	Enhancers	GM12878-XiMat	blood
39	chr19:40372200-40372800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr19:40372200-40372800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:40372200-40372800	Enhancers	Dnd41	blood
42	chr19:40372200-40372800	Enhancers	HepG2	liver
43	chr19:40372200-40372800	Enhancers	K562	blood
44	chr19:40372200-40373000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:40372400-40372600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr19:40372400-40372600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:40372400-40372600	Enhancers	Fetal Intestine Large	intestine
48	chr19:40372400-40372600	Enhancers	Fetal Muscle Trunk	muscle
49	chr19:40372400-40372600	Enhancers	Fetal Muscle Leg	muscle
50	chr19:40372400-40372600	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links