Variant report

Variant	esv3397256
Chromosome Location	chr19:36661962-36663960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36654605..36656507-chr19:36659169..36663563,3	K562	blood:
2	chr19:36618311..36619273-chr19:36661263..36662378,12	K562	blood:
3	chr19:36618283..36619274-chr19:36661381..36662319,5	MCF-7	breast:
4	chr19:36630037..36631640-chr19:36661058..36663609,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126247	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12608840	chr19:36661993-36661994	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186728512	chr19:36662032-36662033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528040138	chr19:36662033-36662034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546167339	chr19:36662041-36662042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191172263	chr19:36662045-36662046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554600267	chr19:36662117-36662118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576267370	chr19:36662125-36662126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543476272	chr19:36662134-36662135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558910800	chr19:36662163-36662164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374586040	chr19:36662194-36662195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375933037	chr19:36662213-36662214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71354121	chr19:36662229-36662230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs71354122	chr19:36662232-36662233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71167597	chr19:36662233-36662234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111409721	chr19:36662234-36662235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs67391804	chr19:36662236-36662237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146802645	chr19:36662243-36662244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74181722	chr19:36662252-36662253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532663935	chr19:36662314-36662315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541491825	chr19:36662315-36662316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10409328	chr19:36662347-36662348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183697446	chr19:36662360-36662361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530270984	chr19:36662376-36662377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548748116	chr19:36662389-36662390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570273632	chr19:36662393-36662394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547196284	chr19:36662456-36662457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140620916	chr19:36662475-36662476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145437184	chr19:36662543-36662544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528530089	chr19:36662546-36662547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538242665	chr19:36662616-36662617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10565093	chr19:36662627-36662628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539865089	chr19:36662655-36662656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565160312	chr19:36662669-36662670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373510914	chr19:36662686-36662687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569247973	chr19:36662690-36662691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56367135	chr19:36662692-36662693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375160177	chr19:36662702-36662703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553489247	chr19:36662705-36662706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369350142	chr19:36662710-36662711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187241722	chr19:36662711-36662712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554724070	chr19:36662712-36662713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372746774	chr19:36662713-36662714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375857403	chr19:36662716-36662717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368918121	chr19:36662717-36662718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373969903	chr19:36662720-36662721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192586882	chr19:36662722-36662723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs56272199	chr19:36662728-36662729	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10410245	chr19:36662732-36662733	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10412586	chr19:36662745-36662746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10410257	chr19:36662746-36662747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36642200-36673400	Weak transcription	Primary B cells from cord blood	blood
2	chr19:36643000-36673800	Weak transcription	NH-A	brain
3	chr19:36643800-36673200	Weak transcription	Brain Germinal Matrix	brain
4	chr19:36644400-36673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:36644400-36673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:36644400-36673400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:36644400-36673400	Weak transcription	Brain Angular Gyrus	brain
8	chr19:36652400-36673400	Weak transcription	Fetal Brain Female	brain
9	chr19:36653000-36673400	Weak transcription	Primary T cells from cord blood	blood
10	chr19:36653200-36662800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:36653200-36673200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:36653200-36673200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr19:36653200-36673400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:36653200-36673400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:36653200-36673400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:36653200-36673400	Weak transcription	HMEC	breast
17	chr19:36653200-36673600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:36653200-36681400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:36653200-36684600	Weak transcription	Aorta	Aorta
20	chr19:36655000-36673600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:36655800-36673400	Weak transcription	Fetal Brain Male	brain
22	chr19:36657800-36673400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:36658000-36673600	Weak transcription	Fetal Stomach	stomach
24	chr19:36660000-36673400	Weak transcription	Lung	lung
25	chr19:36660400-36673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:36660400-36673400	Weak transcription	HSMMtube	muscle
27	chr19:36660400-36673600	Weak transcription	Pancreas	Pancrea
28	chr19:36660600-36663200	Weak transcription	Right Atrium	heart
29	chr19:36660600-36673400	Weak transcription	Thymus	Thymus
30	chr19:36660800-36673200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:36660800-36673200	Weak transcription	HSMM	muscle
32	chr19:36660800-36673400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:36660800-36673400	Weak transcription	Brain Substantia Nigra	brain
34	chr19:36660800-36673400	Weak transcription	Esophagus	oesophagus
35	chr19:36660800-36673600	Weak transcription	Right Ventricle	heart
36	chr19:36660800-36673600	Weak transcription	Spleen	Spleen
37	chr19:36661400-36662000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr19:36661400-36662000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:36661400-36662000	Active TSS	Hela-S3	cervix
40	chr19:36661600-36662000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr19:36661800-36662000	Active TSS	Stomach Smooth Muscle	stomach
42	chr19:36661800-36662000	Enhancers	A549	lung
43	chr19:36661800-36664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:36661800-36664400	Weak transcription	HepG2	liver
45	chr19:36661800-36668800	Weak transcription	Psoas Muscle	Psoas
46	chr19:36661800-36673000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:36661800-36673000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:36661800-36673000	Weak transcription	Fetal Intestine Small	intestine
49	chr19:36661800-36673200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:36661800-36673200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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