Variant report

Variant	esv2762033
Chromosome Location	chr19:35666047-35667511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35665363..35668225-chr19:35738724..35741368,2	K562	blood:
2	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
3	chr19:35666862..35669002-chr19:35676994..35679868,2	K562	blood:
4	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
5	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
6	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:

Variant related genes	Relation type
ENSG00000105699	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150699250	chr19:35666063-35666064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542686185	chr19:35666119-35666120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs10419422	chr19:35666128-35666129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs184983061	chr19:35666142-35666143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10411557	chr19:35666150-35666151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs189364269	chr19:35666157-35666158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572739071	chr19:35666182-35666183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575975225	chr19:35666197-35666198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570094702	chr19:35666233-35666234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10419663	chr19:35666248-35666249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs555374576	chr19:35666252-35666253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565615060	chr19:35666264-35666265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534573223	chr19:35666280-35666281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56370249	chr19:35666355-35666356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139675230	chr19:35666379-35666380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34677175	chr19:35666395-35666396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114398017	chr19:35666398-35666399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35921432	chr19:35666400-35666401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55957448	chr19:35666403-35666404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559364933	chr19:35666405-35666406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149768311	chr19:35666413-35666414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs61192962	chr19:35666424-35666425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs180898152	chr19:35666452-35666453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371896262	chr19:35666503-35666504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139966990	chr19:35666546-35666547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112199808	chr19:35666550-35666551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545443678	chr19:35666585-35666586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs58300983	chr19:35666587-35666588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs529373756	chr19:35666606-35666607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs56413999	chr19:35666629-35666630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs545393659	chr19:35666631-35666632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs73044054	chr19:35666661-35666662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs199787062	chr19:35666678-35666679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201849914	chr19:35666680-35666681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558032752	chr19:35666770-35666771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571492997	chr19:35666771-35666772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537235248	chr19:35666785-35666786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35746990	chr19:35666857-35666858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs573904832	chr19:35666880-35666881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11882781	chr19:35666912-35666913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs553111997	chr19:35666920-35666921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185795213	chr19:35666976-35666977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544725319	chr19:35667072-35667073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564789836	chr19:35667084-35667085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572822834	chr19:35667108-35667109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543971900	chr19:35667156-35667157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563510591	chr19:35667184-35667185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10419079	chr19:35667187-35667188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7255878	chr19:35667192-35667193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs559469992	chr19:35667200-35667201	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

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
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
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	18160780	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
3	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
5	chr19:35658000-35667000	Weak transcription	HSMM	muscle
6	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:35658200-35666800	Weak transcription	Osteobl	bone
8	chr19:35658800-35667200	Weak transcription	NH-A	brain
9	chr19:35659600-35666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:35659600-35667000	Weak transcription	GM12878-XiMat	blood
11	chr19:35659800-35666400	Weak transcription	Esophagus	oesophagus
12	chr19:35660800-35673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:35661000-35666800	Weak transcription	Lung	lung
14	chr19:35661400-35667000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:35661600-35666600	Weak transcription	NHEK	skin
16	chr19:35661800-35666200	Weak transcription	Placenta	Placenta
17	chr19:35661800-35666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:35661800-35666800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:35661800-35666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:35661800-35666800	Weak transcription	NHLF	lung
21	chr19:35661800-35668600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:35661800-35670000	Weak transcription	Thymus	Thymus
23	chr19:35661800-35673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:35662000-35666800	Weak transcription	HMEC	breast
25	chr19:35662800-35666200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:35662800-35666600	Weak transcription	NHDF-Ad	bronchial
27	chr19:35663000-35667200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr19:35663400-35666600	Weak transcription	Spleen	Spleen
29	chr19:35663400-35666800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:35663400-35666800	Weak transcription	Adipose Nuclei	Adipose
31	chr19:35663400-35667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:35663600-35666800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:35663800-35666800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:35663800-35667200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:35663800-35667200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:35664000-35666800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:35664000-35666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:35664000-35666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:35664000-35667000	Weak transcription	Fetal Intestine Small	intestine
40	chr19:35664000-35668200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr19:35664000-35668200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:35664000-35669800	Weak transcription	Primary T cells from cord blood	blood
43	chr19:35664000-35669800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:35664000-35670000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:35664200-35666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr19:35664200-35666800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:35664200-35667000	Weak transcription	Stomach Mucosa	stomach
48	chr19:35664200-35669600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:35664200-35670400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:35664800-35668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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