Variant report

Variant	nsv961219
Chromosome Location	chr19:41324679-41328254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41252878..41254657-chr19:41324128..41326565,2	K562	blood:
2	chr19:41256025..41258219-chr19:41326526..41328364,2	K562	blood:
3	chr19:41305847..41307435-chr19:41322147..41325035,2	K562	blood:
4	chr19:41323756..41325875-chr19:41632979..41635488,2	MCF-7	breast:
5	chr19:41167522..41169643-chr19:41327340..41330313,2	K562	blood:

Variant related genes	Relation type
ENSG00000268797	chromatin interactions
ENSG00000188493	chromatin interactions
ENSG00000269858	chromatin interactions
ENSG00000077312	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55711298	chr19:41324683-41324684	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2545771	chr19:41324684-41324685	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs144073569	chr19:41324707-41324708	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554903079	chr19:41324710-41324711	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573615604	chr19:41324716-41324717	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs2545772	chr19:41324746-41324747	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs56081382	chr19:41324769-41324770	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562374318	chr19:41324773-41324774	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs55869029	chr19:41324801-41324802	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs71358937	chr19:41324810-41324811	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577750105	chr19:41324812-41324813	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2545773	chr19:41324832-41324833	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564422819	chr19:41324833-41324834	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs191763029	chr19:41324858-41324859	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547024386	chr19:41324876-41324877	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184736665	chr19:41324915-41324916	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529633434	chr19:41324954-41324955	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114078318	chr19:41325007-41325008	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141084373	chr19:41325032-41325033	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539633894	chr19:41325036-41325037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs113505230	chr19:41325043-41325044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112518112	chr19:41325050-41325051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115947763	chr19:41325060-41325061	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112711471	chr19:41325073-41325074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs180672633	chr19:41325080-41325081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs111827135	chr19:41325081-41325082	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554312419	chr19:41325113-41325114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185938953	chr19:41325119-41325120	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs573282689	chr19:41325129-41325130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537785857	chr19:41325197-41325198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs146465456	chr19:41325199-41325200	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577816507	chr19:41325200-41325201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs544877703	chr19:41325213-41325214	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs560251202	chr19:41325239-41325240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558197495	chr19:41325259-41325260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181874503	chr19:41325273-41325274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540700254	chr19:41325328-41325329	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562093186	chr19:41325406-41325407	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs186199160	chr19:41325407-41325408	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190505753	chr19:41325423-41325424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563036529	chr19:41325543-41325544	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs367589269	chr19:41325554-41325555	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs577046437	chr19:41325593-41325594	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533636587	chr19:41325602-41325603	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551699225	chr19:41325624-41325625	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs183048052	chr19:41325630-41325631	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs567027373	chr19:41325644-41325645	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186314619	chr19:41325767-41325768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs533670766	chr19:41325789-41325790	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs548655103	chr19:41325799-41325800	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
2	chr19:41316400-41325400	Weak transcription	Dnd41	blood
3	chr19:41320200-41332800	Weak transcription	HSMMtube	muscle
4	chr19:41322600-41330600	Enhancers	Placenta	Placenta
5	chr19:41322800-41326000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:41323200-41326200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr19:41323800-41325400	Enhancers	Fetal Intestine Small	intestine
8	chr19:41323800-41325800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr19:41323800-41325800	Enhancers	Liver	Liver
10	chr19:41323800-41325800	Enhancers	Colon Smooth Muscle	Colon
11	chr19:41323800-41325800	Enhancers	Fetal Stomach	stomach
12	chr19:41324000-41324800	Enhancers	Brain Substantia Nigra	brain
13	chr19:41324000-41325800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr19:41324000-41326000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:41324000-41326000	Enhancers	Fetal Thymus	thymus
16	chr19:41324200-41324800	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr19:41324200-41324800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr19:41324200-41324800	Enhancers	Fetal Intestine Large	intestine
19	chr19:41324200-41325000	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr19:41324200-41325200	Enhancers	Stomach Mucosa	stomach
21	chr19:41324200-41325800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr19:41324200-41325800	Enhancers	GM12878-XiMat	blood
23	chr19:41324400-41324800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:41324400-41324800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr19:41324400-41324800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:41324400-41324800	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr19:41324400-41324800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:41324400-41324800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr19:41324400-41324800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr19:41324400-41324800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr19:41324400-41324800	Active TSS	Primary T cells from cord blood	blood
32	chr19:41324400-41324800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr19:41324400-41324800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:41324400-41324800	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr19:41324400-41324800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr19:41324400-41324800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:41324400-41324800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:41324400-41324800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:41324400-41324800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:41324400-41324800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:41324400-41324800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr19:41324400-41324800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr19:41324400-41324800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:41324400-41324800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:41324400-41324800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:41324400-41324800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:41324400-41324800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:41324400-41324800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:41324400-41324800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr19:41324400-41324800	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links