Variant report

Variant	nsv516540
Chromosome Location	chr19:35660450-35685536
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:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
2	chr19:35662646..35664738-chr19:35675000..35677629,2	K562	blood:
3	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
4	chr19:35662646..35664738-chr19:35675000..35677629,2	K562	blood:
5	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
6	chr19:35644439..35646610-chr19:35662548..35664453,2	MCF-7	breast:
7	chr19:35659165..35661294-chr19:35670153..35671780,2	K562	blood:
8	chr19:35662152..35664028-chr19:35739883..35742034,2	K562	blood:
9	chr19:35670858..35673817-chr19:35687638..35690435,2	K562	blood:
10	chr19:35671709..35673473-chr19:35759064..35761234,2	K562	blood:
11	chr19:35676990..35679771-chr19:35683266..35685850,2	K562	blood:
12	chr19:35681330..35684144-chr19:35686479..35687982,2	K562	blood:
13	chr19:35658538..35660564-chr19:35760467..35762500,2	K562	blood:
14	chr19:35672500..35675529-chr19:35737438..35741898,4	K562	blood:
15	chr19:35676990..35679771-chr19:35683266..35685850,2	K562	blood:
16	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
17	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
18	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
19	chr19:35658697..35660776-chr19:35739212..35740943,2	K562	blood:
20	chr19:35669103..35671214-chr19:35737457..35739938,2	K562	blood:
21	chr19:35680181..35681833-chr19:35683643..35685960,2	K562	blood:
22	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
23	chr19:35680181..35681833-chr19:35683643..35685960,2	K562	blood:
24	chr19:35666862..35669002-chr19:35676994..35679868,2	K562	blood:
25	chr19:35665363..35668225-chr19:35738724..35741368,2	K562	blood:
26	chr19:35662127..35664028-chr19:35738687..35742034,3	K562	blood:
27	chr19:35666862..35669002-chr19:35676994..35679868,2	K562	blood:
28	chr19:35660696..35663351-chr19:35770755..35773033,2	K562	blood:
29	chr19:35656275..35658757-chr19:35668459..35673698,5	K562	blood:
30	chr19:35659165..35661294-chr19:35670153..35671780,2	K562	blood:
31	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FXYD7-2	chr19:35660469-35660788	NR_028406

No data

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

Extended variants
information (count: 965 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:965 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2285515	chr19:35660450-35660451	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543604257	chr19:35660479-35660480	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs141471950	chr19:35660493-35660494	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs202199564	chr19:35660501-35660502	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs12110	chr19:35660508-35660509	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs139275772	chr19:35660515-35660516	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs368367031	chr19:35660517-35660518	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs371459976	chr19:35660521-35660522	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs201779969	chr19:35660525-35660526	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs1046294	chr19:35660546-35660547	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs374136501	chr19:35660547-35660548	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs559369154	chr19:35660585-35660586	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs533690554	chr19:35660609-35660610	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs368699970	chr19:35660633-35660634	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs574000332	chr19:35660638-35660639	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs143873147	chr19:35660669-35660670	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs3458	chr19:35660670-35660671	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs146882632	chr19:35660674-35660675	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs140736585	chr19:35660697-35660698	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs570020111	chr19:35660715-35660716	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs193021834	chr19:35660717-35660718	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs1046345	chr19:35660752-35660753	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs60886964	chr19:35660811-35660812	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534703187	chr19:35660829-35660830	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557630542	chr19:35660830-35660831	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs62111373	chr19:35660844-35660845	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs563802339	chr19:35660875-35660876	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142775256	chr19:35660886-35660887	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543239289	chr19:35660901-35660902	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563528480	chr19:35660915-35660916	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs62111374	chr19:35660919-35660920	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374279668	chr19:35660951-35660952	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs59975720	chr19:35660954-35660955	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs561116687	chr19:35660965-35660966	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs151049011	chr19:35661007-35661008	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528044821	chr19:35661045-35661046	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551442832	chr19:35661107-35661108	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564758884	chr19:35661112-35661113	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140985552	chr19:35661131-35661132	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184671217	chr19:35661139-35661140	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570201308	chr19:35661235-35661236	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112942964	chr19:35661331-35661332	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150222371	chr19:35661403-35661404	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77103900	chr19:35661449-35661450	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188336590	chr19:35661474-35661475	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565884977	chr19:35661481-35661482	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534691261	chr19:35661493-35661494	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557765867	chr19:35661562-35661563	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147812566	chr19:35661568-35661569	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537324775	chr19:35661573-35661574	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	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:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35648000-35661600	Strong transcription	H1 Cell Line	embryonic stem cell
2	chr19:35648000-35661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:35652000-35661800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:35653400-35663800	Weak transcription	Stomach Mucosa	stomach
6	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:35653800-35661400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
9	chr19:35655600-35661400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:35657400-35662200	Weak transcription	Small Intestine	intestine
11	chr19:35657400-35663200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:35657600-35660600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr19:35657600-35661800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:35657600-35663000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:35657800-35660600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:35657800-35660600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:35657800-35661200	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr19:35657800-35661400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:35657800-35661800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:35657800-35661800	Strong transcription	NHLF	lung
22	chr19:35657800-35662800	Weak transcription	Fetal Intestine Large	intestine
23	chr19:35657800-35663400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
27	chr19:35658000-35660800	Genic enhancers	NHEK	skin
28	chr19:35658000-35661000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:35658000-35661600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:35658000-35662600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:35658000-35667000	Weak transcription	HSMM	muscle
33	chr19:35658200-35660800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:35658200-35660800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:35658200-35662600	Weak transcription	HUVEC	blood vessel
36	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:35658200-35666800	Weak transcription	Osteobl	bone
38	chr19:35658400-35661600	Strong transcription	Spleen	Spleen
39	chr19:35658400-35661800	Strong transcription	Thymus	Thymus
40	chr19:35658400-35662600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr19:35658400-35663200	Weak transcription	Aorta	Aorta
42	chr19:35658400-35664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:35658800-35661400	Weak transcription	NHDF-Ad	bronchial
44	chr19:35658800-35661800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:35658800-35661800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:35658800-35662000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:35658800-35667200	Weak transcription	NH-A	brain
48	chr19:35659000-35661000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:35659000-35661200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr19:35659200-35661000	Strong transcription	Primary B cells from peripheral blood	blood

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