Variant report

Variant	rs10426310
Chromosome Location	chr19:42776580-42776581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42775700..42778314-chr19:42814238..42816528,2	K562	blood:
2	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105722	Chromatin interaction
ENSG00000268643	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10410185	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410198	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410698	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412833	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10426306	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11557114	0.91[ASN][1000 genomes]
rs11878620	0.91[ASN][1000 genomes]
rs11882654	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206009	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1209280	0.90[ASN][1000 genomes]
rs1211265	0.90[ASN][1000 genomes]
rs1676217	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1676220	0.81[ASN][1000 genomes]
rs2267630	0.87[ASN][1000 genomes]
rs2302485	0.91[ASN][1000 genomes]
rs2537697	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2615614	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28537976	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35493131	0.91[ASN][1000 genomes]
rs3810148	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4141062	0.95[ASN][1000 genomes]
rs57938324	1.00[ASN][1000 genomes]
rs7258795	1.00[ASN][1000 genomes]
rs73552881	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73552895	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741070	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851612	0.95[ASN][1000 genomes]
rs851615	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9636121	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
13	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
14	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
15	esv1801251	chr19:42768288-42788467	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
16	esv1803455	chr19:42768288-42788467	Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
17	esv1803706	chr19:42768288-42788467	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
18	esv1801291	chr19:42772432-42788467	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
19	esv1801294	chr19:42772432-42788467	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
20	esv1801914	chr19:42772432-42788467	Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
21	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42774000-42776800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:42774200-42778400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:42774400-42783600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:42774600-42777400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr19:42774800-42777200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:42775000-42777200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:42775000-42778800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:42775400-42776600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:42775400-42776600	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr19:42775400-42776600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:42775400-42776800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:42775400-42781400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:42775400-42781800	Weak transcription	Small Intestine	intestine
14	chr19:42775400-42782000	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr19:42775600-42776600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:42775600-42776600	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr19:42775600-42777000	Genic enhancers	HMEC	breast
18	chr19:42775600-42777200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:42775600-42778000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:42775600-42778600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:42775600-42778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:42775600-42778800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:42775600-42779800	Strong transcription	NHLF	lung
24	chr19:42775600-42781400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:42775800-42776600	Weak transcription	HUVEC	blood vessel
26	chr19:42775800-42776800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:42775800-42777000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:42775800-42777000	Strong transcription	HepG2	liver
29	chr19:42775800-42777400	Weak transcription	Fetal Lung	lung
30	chr19:42775800-42777400	Weak transcription	NHDF-Ad	bronchial
31	chr19:42775800-42777600	Weak transcription	K562	blood
32	chr19:42775800-42777800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:42775800-42778000	Strong transcription	Fetal Muscle Leg	muscle
34	chr19:42775800-42778600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:42775800-42778600	Strong transcription	Brain Anterior Caudate	brain
36	chr19:42775800-42778600	Weak transcription	HSMMtube	muscle
37	chr19:42775800-42778600	Weak transcription	NH-A	brain
38	chr19:42775800-42778800	Weak transcription	HSMM	muscle
39	chr19:42775800-42779200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:42775800-42780200	Strong transcription	Colonic Mucosa	Colon
41	chr19:42775800-42780400	Strong transcription	Fetal Stomach	stomach
42	chr19:42775800-42780600	Weak transcription	Fetal Heart	heart
43	chr19:42775800-42780600	Genic enhancers	Spleen	Spleen
44	chr19:42775800-42781600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:42775800-42781800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:42775800-42782400	Weak transcription	Fetal Kidney	kidney
47	chr19:42775800-42783600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:42776000-42776600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:42776000-42776600	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:42776000-42776600	Weak transcription	Brain Inferior Temporal Lobe	brain

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