Variant report

Variant	rs10412053
Chromosome Location	chr19:18796256-18796257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18794491..18797092-chr19:18797337..18802619,5	K562	blood:
2	chr19:18794658..18796349-chr19:18952562..18954246,2	MCF-7	breast:
3	chr19:18704422..18706630-chr19:18794126..18797351,3	K562	blood:
4	chr19:18795506..18797071-chr19:18943433..18946389,2	K562	blood:
5	chr19:18704422..18706630-chr19:18794126..18796450,2	K562	blood:

Variant related genes	Relation type
ENSG00000006016	Chromatin interaction
ENSG00000005007	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10412858	0.84[ASN][1000 genomes]
rs10419226	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10420228	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10421503	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10854003	0.85[ASN][1000 genomes]
rs11085236	0.85[ASN][1000 genomes]
rs11883401	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12976113	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1473116	0.94[ASN][1000 genomes]
rs2214524	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2385178	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2891698	0.90[EUR][1000 genomes]
rs3829671	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4808145	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4808147	0.89[ASN][1000 genomes]
rs6510995	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6510996	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7246437	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7257812	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs757347	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs757350	0.82[AMR][1000 genomes]
rs8100824	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8102046	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs876982	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs886443	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs889364	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18795400-18796600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr19:18795400-18796600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:18795400-18796600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr19:18795400-18796600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:18795400-18796600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr19:18795400-18796800	Enhancers	Adipose Nuclei	Adipose
7	chr19:18795400-18797200	Enhancers	NHLF	lung
8	chr19:18795400-18797600	Enhancers	Liver	Liver
9	chr19:18795400-18798200	Weak transcription	A549	lung
10	chr19:18795400-18799200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:18795400-18809000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:18795400-18810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:18795400-18811400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:18795400-18811400	Weak transcription	NH-A	brain
15	chr19:18795600-18796600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr19:18795600-18796600	Enhancers	HSMMtube	muscle
17	chr19:18795600-18796800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:18795600-18797000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr19:18795600-18797200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr19:18795600-18797200	Weak transcription	Fetal Intestine Small	intestine
21	chr19:18795600-18797800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:18795600-18798200	Weak transcription	Lung	lung
23	chr19:18795600-18799000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:18795600-18800800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:18795600-18802200	Weak transcription	Fetal Stomach	stomach
26	chr19:18795600-18802400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:18795600-18810000	Weak transcription	Thymus	Thymus
28	chr19:18795600-18810800	Weak transcription	Ovary	ovary
29	chr19:18795800-18796400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:18795800-18796600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:18795800-18796600	Enhancers	Stomach Smooth Muscle	stomach
32	chr19:18795800-18796800	Enhancers	Osteobl	bone
33	chr19:18795800-18797000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:18795800-18797400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:18795800-18797600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:18795800-18797600	Weak transcription	Colonic Mucosa	Colon
37	chr19:18795800-18798200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr19:18795800-18798600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:18795800-18798800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr19:18795800-18801000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:18795800-18806800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:18795800-18807000	Weak transcription	Pancreas	Pancrea
43	chr19:18795800-18807200	Weak transcription	Esophagus	oesophagus
44	chr19:18795800-18807800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr19:18795800-18807800	Weak transcription	Fetal Muscle Leg	muscle
46	chr19:18795800-18807800	Weak transcription	Right Ventricle	heart
47	chr19:18795800-18808400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr19:18795800-18808800	Weak transcription	Spleen	Spleen
49	chr19:18795800-18809400	Weak transcription	Primary B cells from cord blood	blood
50	chr19:18795800-18809400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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