Variant report

Variant	nsv817831
Chromosome Location	chr19:35661787-35673243
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35665363..35668225-chr19:35738724..35741368,2	K562	blood:
2	chr19:35672500..35675529-chr19:35737438..35741898,4	K562	blood:
3	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
4	chr19:35669103..35671214-chr19:35737457..35739938,2	K562	blood:
5	chr19:35666862..35669002-chr19:35676994..35679868,2	K562	blood:
6	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
7	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
8	chr19:35644439..35646610-chr19:35662548..35664453,2	MCF-7	breast:
9	chr19:35660696..35663351-chr19:35770755..35773033,2	K562	blood:
10	chr19:35670858..35673817-chr19:35687638..35690435,2	K562	blood:
11	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
12	chr19:35662127..35664028-chr19:35738687..35742034,3	K562	blood:
13	chr19:35662152..35664028-chr19:35739883..35742034,2	K562	blood:
14	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
15	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
16	chr19:35659165..35661294-chr19:35670153..35671780,2	K562	blood:
17	chr19:35671709..35673473-chr19:35759064..35761234,2	K562	blood:
18	chr19:35656275..35658757-chr19:35668459..35673698,5	K562	blood:
19	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
20	chr19:35662646..35664738-chr19:35675000..35677629,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105699	chromatin interactions
ENSG00000105697	chromatin interactions
ENSG00000105698	chromatin interactions
ENSG00000089327	chromatin interactions

Extended variants
information (count: 507 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7249921	chr19:35661787-35661788	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115716812	chr19:35661789-35661790	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565821713	chr19:35661811-35661812	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116166540	chr19:35661814-35661815	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs117476373	chr19:35661837-35661838	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377126482	chr19:35661865-35661866	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200945340	chr19:35661889-35661890	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377228727	chr19:35661892-35661893	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12981475	chr19:35661906-35661907	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12981515	chr19:35661951-35661952	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10588120	chr19:35662032-35662033	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35758274	chr19:35662037-35662038	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs36046353	chr19:35662039-35662040	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143020877	chr19:35662072-35662073	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557035609	chr19:35662100-35662101	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189428424	chr19:35662116-35662117	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs721251	chr19:35662148-35662149	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148195442	chr19:35662150-35662151	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74382548	chr19:35662156-35662157	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs8104375	chr19:35662174-35662175	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs12982235	chr19:35662185-35662186	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs58532360	chr19:35662223-35662224	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs57899179	chr19:35662246-35662247	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs397976976	chr19:35662247-35662248	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111613043	chr19:35662248-35662249	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113675035	chr19:35662249-35662250	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7249578	chr19:35662257-35662258	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs66465261	chr19:35662315-35662316	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7254324	chr19:35662316-35662317	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs374397170	chr19:35662406-35662407	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs567061672	chr19:35662411-35662412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs575134341	chr19:35662456-35662457	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs6510468	chr19:35662457-35662458	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10410590	chr19:35662504-35662505	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2014850	chr19:35662505-35662506	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs186539362	chr19:35662513-35662514	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs190663014	chr19:35662527-35662528	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs182042650	chr19:35662550-35662551	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs739494	chr19:35662551-35662552	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs549060472	chr19:35662573-35662574	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs371270618	chr19:35662596-35662597	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs2003447	chr19:35662603-35662604	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs368476131	chr19:35662612-35662613	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs530930523	chr19:35662632-35662633	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs550738370	chr19:35662637-35662638	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs114986689	chr19:35662649-35662650	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs374335753	chr19:35662697-35662698	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs536577336	chr19:35662740-35662741	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs13344454	chr19:35662787-35662788	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs739495	chr19:35662809-35662810	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35648000-35661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:35652000-35661800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:35653400-35663800	Weak transcription	Stomach Mucosa	stomach
5	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
7	chr19:35657400-35662200	Weak transcription	Small Intestine	intestine
8	chr19:35657400-35663200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:35657600-35661800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:35657600-35663000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:35657800-35661800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:35657800-35661800	Strong transcription	NHLF	lung
14	chr19:35657800-35662800	Weak transcription	Fetal Intestine Large	intestine
15	chr19:35657800-35663400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
19	chr19:35658000-35662600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:35658000-35667000	Weak transcription	HSMM	muscle
22	chr19:35658200-35662600	Weak transcription	HUVEC	blood vessel
23	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:35658200-35666800	Weak transcription	Osteobl	bone
25	chr19:35658400-35661800	Strong transcription	Thymus	Thymus
26	chr19:35658400-35662600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:35658400-35663200	Weak transcription	Aorta	Aorta
28	chr19:35658400-35664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:35658800-35661800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:35658800-35661800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:35658800-35662000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:35658800-35667200	Weak transcription	NH-A	brain
33	chr19:35659200-35661800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:35659400-35662200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr19:35659400-35662200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:35659400-35663600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr19:35659400-35665600	Weak transcription	A549	lung
38	chr19:35659600-35661800	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr19:35659600-35662000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:35659600-35662600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:35659600-35662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:35659600-35663200	Strong transcription	K562	blood
43	chr19:35659600-35666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:35659600-35667000	Weak transcription	GM12878-XiMat	blood
45	chr19:35659800-35661800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:35659800-35662600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr19:35659800-35662800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:35659800-35666400	Weak transcription	Esophagus	oesophagus
49	chr19:35660000-35662000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:35660400-35661800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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