Variant report

Variant	nsv579388
Chromosome Location	chr19:35663530-35665573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
2	chr19:35644439..35646610-chr19:35662548..35664453,2	MCF-7	breast:
3	chr19:35662152..35664028-chr19:35739883..35742034,2	K562	blood:
4	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
5	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
6	chr19:35665363..35668225-chr19:35738724..35741368,2	K562	blood:
7	chr19:35662127..35664028-chr19:35738687..35742034,3	K562	blood:
8	chr19:35662646..35664738-chr19:35675000..35677629,2	K562	blood:
9	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105699	chromatin interactions
ENSG00000089327	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10417952	chr19:35663530-35663531	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75781460	chr19:35663531-35663532	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10417962	chr19:35663540-35663541	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145155324	chr19:35663559-35663560	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201104151	chr19:35663586-35663587	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs117126102	chr19:35663616-35663617	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561440821	chr19:35663617-35663618	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs148718791	chr19:35663628-35663629	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs114779849	chr19:35663632-35663633	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549128903	chr19:35663645-35663646	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs61258580	chr19:35663657-35663658	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114270268	chr19:35663663-35663664	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76585441	chr19:35663706-35663707	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1672996	chr19:35663733-35663734	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs8108355	chr19:35663736-35663737	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs547931027	chr19:35663750-35663751	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183715218	chr19:35663751-35663752	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533535285	chr19:35663754-35663755	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553384934	chr19:35663807-35663808	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs566801348	chr19:35663819-35663820	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs886134	chr19:35663843-35663844	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73596749	chr19:35663883-35663884	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs886135	chr19:35663916-35663917	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544792669	chr19:35663919-35663920	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188540238	chr19:35663937-35663938	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs116235804	chr19:35663940-35663941	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs115549281	chr19:35664010-35664011	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532568375	chr19:35664069-35664070	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572874420	chr19:35664134-35664135	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545739485	chr19:35664190-35664191	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562805782	chr19:35664201-35664202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531403544	chr19:35664206-35664207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548406234	chr19:35664210-35664211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567799239	chr19:35664211-35664212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527413585	chr19:35664245-35664246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192082634	chr19:35664250-35664251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547110447	chr19:35664268-35664269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2861490	chr19:35664304-35664305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs200001473	chr19:35664358-35664359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112061341	chr19:35664375-35664376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367623490	chr19:35664423-35664424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569578414	chr19:35664430-35664431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538044383	chr19:35664445-35664446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143828629	chr19:35664485-35664486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199765005	chr19:35664488-35664489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375887396	chr19:35664496-35664497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555232498	chr19:35664500-35664501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575110493	chr19:35664530-35664531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12710029	chr19:35664583-35664584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs183384467	chr19:35664584-35664585	Weak transcription Enhancers	n/a	n/a	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35653400-35663800	Weak transcription	Stomach Mucosa	stomach
2	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
4	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
8	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:35658000-35667000	Weak transcription	HSMM	muscle
10	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:35658200-35666800	Weak transcription	Osteobl	bone
12	chr19:35658400-35664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:35658800-35667200	Weak transcription	NH-A	brain
14	chr19:35659400-35663600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:35659400-35665600	Weak transcription	A549	lung
16	chr19:35659600-35666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:35659600-35667000	Weak transcription	GM12878-XiMat	blood
18	chr19:35659800-35666400	Weak transcription	Esophagus	oesophagus
19	chr19:35660400-35664200	Weak transcription	Hela-S3	cervix
20	chr19:35660800-35663600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:35660800-35663800	Weak transcription	Dnd41	blood
22	chr19:35660800-35673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:35661000-35666800	Weak transcription	Lung	lung
24	chr19:35661200-35666000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:35661400-35664000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:35661400-35667000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:35661600-35663800	Weak transcription	Gastric	stomach
28	chr19:35661600-35666600	Weak transcription	NHEK	skin
29	chr19:35661800-35663600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:35661800-35664800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:35661800-35666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:35661800-35666200	Weak transcription	Placenta	Placenta
33	chr19:35661800-35666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:35661800-35666800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:35661800-35666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:35661800-35666800	Weak transcription	NHLF	lung
37	chr19:35661800-35668600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr19:35661800-35670000	Weak transcription	Thymus	Thymus
39	chr19:35661800-35673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:35662000-35665000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:35662000-35666800	Weak transcription	HMEC	breast
42	chr19:35662400-35663800	Enhancers	Primary hematopoietic stem cells	blood
43	chr19:35662400-35664000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:35662400-35664800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:35662400-35664800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:35662600-35663600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:35662600-35664000	Enhancers	Primary T cells from cord blood	blood
48	chr19:35662600-35664000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr19:35662600-35664000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr19:35662600-35664000	Enhancers	Primary T helper cells PMA-I stimulated	--

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