Variant report

Variant	rs62126357
Chromosome Location	chr19:55794266-55794267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:55768870..55771541-chr19:55794018..55795820,2	MCF-7	breast:
2	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:
3	chr19:55789007..55794976-chr19:55917716..55921043,9	K562	blood:
4	chr19:55793274..55795541-chr19:55812526..55814100,2	MCF-7	breast:
5	chr19:55790346..55793216-chr19:55794114..55797002,3	MCF-7	breast:
6	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:
7	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105063	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000108107	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10411896	0.95[ASN][1000 genomes]
rs11665832	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667472	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669313	0.94[EUR][1000 genomes]
rs11672373	0.81[EUR][1000 genomes]
rs11672710	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672774	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159664	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848610	0.94[EUR][1000 genomes]
rs62126346	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126347	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126348	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126352	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509938	0.96[EUR][1000 genomes]
rs7258327	0.90[EUR][1000 genomes]
rs8105032	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	228 gene(s)	inside rSNPs	diseases
6	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv912459	chr19:55791380-55845386	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv3442638	chr19:55794165-55797013	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55791600-55796000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:55791800-55795000	Weak transcription	HSMMtube	muscle
3	chr19:55791800-55796600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:55792000-55795000	Weak transcription	HSMM	muscle
5	chr19:55792200-55794400	Weak transcription	Fetal Brain Male	brain
6	chr19:55792200-55794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:55792200-55794800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:55792200-55795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:55792200-55795000	Weak transcription	Aorta	Aorta
10	chr19:55792200-55795000	Weak transcription	Right Atrium	heart
11	chr19:55792200-55795000	Weak transcription	NH-A	brain
12	chr19:55792400-55794400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:55792400-55794400	Weak transcription	Brain Anterior Caudate	brain
14	chr19:55792400-55794400	Weak transcription	Brain Germinal Matrix	brain
15	chr19:55792400-55794400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:55792400-55794600	Weak transcription	Primary T cells from cord blood	blood
17	chr19:55792400-55794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:55792400-55794600	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:55792400-55794600	Weak transcription	Brain Substantia Nigra	brain
20	chr19:55792400-55794600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:55792400-55794800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:55792400-55794800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:55792400-55795000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:55792400-55795000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:55792400-55795000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr19:55792400-55795000	Weak transcription	Dnd41	blood
27	chr19:55792400-55795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:55792400-55796800	Weak transcription	Gastric	stomach
29	chr19:55792400-55797000	Weak transcription	Pancreas	Pancrea
30	chr19:55792600-55794400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:55792600-55794400	Weak transcription	Brain Angular Gyrus	brain
32	chr19:55792600-55794400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:55792600-55794600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr19:55792600-55794800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr19:55792600-55794800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:55792600-55794800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:55792600-55794800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:55792600-55794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:55792600-55794800	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:55792600-55794800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:55792600-55794800	Weak transcription	Fetal Heart	heart
42	chr19:55792600-55794800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:55792600-55795000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:55792600-55795000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:55792600-55795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr19:55792600-55795000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:55792600-55795000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:55792600-55795000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr19:55792600-55795000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:55792600-55795000	Weak transcription	Fetal Kidney	kidney

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