Variant report

Variant	rs10410695
Chromosome Location	chr19:40489297-40489298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40489174-40490211	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:40472172-40495393	PANC-1	pancreas:	n/a	n/a
3	BCL3	chr19:40489271-40490313	A549	lung:	n/a	n/a
4	POLR2A	chr19:40489256-40490361	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr19:40489269-40490163	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40473089..40482317-chr19:40483091..40492558,21	K562	blood:
2	chr19:40475627..40477448-chr19:40488528..40491173,2	MCF-7	breast:
3	chr19:40487341..40489900-chr19:40495161..40497738,2	K562	blood:

Variant related genes	Relation type
ZNF546	TF binding region
ENSG00000013275	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs170898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234297	1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	1.00[EUR][1000 genomes]
rs234316	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234319	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234321	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234327	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234339	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234342	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2542302	1.00[EUR][1000 genomes]
rs2542311	1.00[AMR][1000 genomes]
rs28589691	0.93[AMR][1000 genomes]
rs28661993	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28776318	1.00[EUR][1000 genomes]
rs28832070	1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	1.00[EUR][1000 genomes]
rs7245930	1.00[EUR][1000 genomes]
rs7250945	1.00[EUR][1000 genomes]
rs7257627	1.00[EUR][1000 genomes]
rs7258111	1.00[EUR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	1.00[EUR][1000 genomes]
rs73930679	1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40477800-40501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:40478200-40489400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:40478200-40489400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr19:40478200-40489600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:40478400-40489400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:40478400-40489400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr19:40478400-40489400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:40478400-40489400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:40478400-40490000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:40478400-40490400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:40478400-40491000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr19:40478400-40491200	Weak transcription	Fetal Heart	heart
13	chr19:40478600-40489600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:40478600-40489600	Strong transcription	Liver	Liver
15	chr19:40478600-40489600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:40478600-40489800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:40478600-40490000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:40478600-40501800	Weak transcription	Right Atrium	heart
19	chr19:40479000-40490200	Strong transcription	HSMMtube	muscle
20	chr19:40479200-40490200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:40479600-40490200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:40480400-40489600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:40481800-40489400	Weak transcription	Fetal Kidney	kidney
24	chr19:40481800-40490800	Weak transcription	Stomach Mucosa	stomach
25	chr19:40482800-40489400	Strong transcription	Placenta	Placenta
26	chr19:40482800-40489600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:40482800-40489600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:40482800-40489800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:40482800-40490000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr19:40482800-40490000	Strong transcription	Brain Hippocampus Middle	brain
31	chr19:40482800-40490200	Strong transcription	Osteobl	bone
32	chr19:40483200-40489400	Strong transcription	Brain Germinal Matrix	brain
33	chr19:40483200-40489800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr19:40483200-40489800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr19:40483200-40489800	Strong transcription	HSMM	muscle
36	chr19:40483200-40490000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:40483200-40490000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:40483200-40490400	Strong transcription	Fetal Thymus	thymus
39	chr19:40483800-40489600	Strong transcription	NHDF-Ad	bronchial
40	chr19:40483800-40489800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr19:40485400-40490000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:40485800-40494600	ZNF genes & repeats	A549	lung
43	chr19:40486000-40489600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:40486400-40489800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr19:40486800-40490800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:40486800-40492800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:40487000-40489600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:40487200-40489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:40487200-40490000	ZNF genes & repeats	GM12878-XiMat	blood
50	chr19:40487200-40499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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