Variant report

Variant	rs10411209
Chromosome Location	chr19:39418929-39418930
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	chr19:39418846-39427915	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39338595..39344864-chr19:39418604..39422934,11	K562	blood:
2	chr19:39386472..39392494-chr19:39418718..39424791,9	K562	blood:
3	chr19:39414900..39416436-chr19:39417401..39420305,2	K562	blood:

Variant related genes	Relation type
MRPS12	TF binding region
ENSG00000068903	Chromatin interaction
ENSG00000104825	Chromatin interaction
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10411301	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343573	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972885	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2070250	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2116853	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304115	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304116	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362605	1.00[ASN][1000 genomes]
rs28808414	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28824318	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28844707	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28860185	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181068	1.00[ASN][1000 genomes]
rs34264048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399999	1.00[ASN][1000 genomes]
rs61194027	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61232096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508826	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508827	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73537679	1.00[ASN][1000 genomes]
rs73930228	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73930229	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8113749	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 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	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
2	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
3	chr19:39398000-39420600	Weak transcription	Psoas Muscle	Psoas
4	chr19:39402800-39420200	Weak transcription	Colon Smooth Muscle	Colon
5	chr19:39403600-39420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:39403800-39420200	Weak transcription	Fetal Brain Male	brain
7	chr19:39406400-39420000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:39406800-39420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:39409200-39419000	Strong transcription	Fetal Intestine Small	intestine
10	chr19:39409200-39420400	Weak transcription	Stomach Mucosa	stomach
11	chr19:39411400-39419000	Strong transcription	Fetal Stomach	stomach
12	chr19:39411600-39420400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:39411600-39420400	Weak transcription	Fetal Heart	heart
14	chr19:39412000-39419000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:39412000-39419600	Strong transcription	Fetal Muscle Leg	muscle
16	chr19:39412200-39419200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:39412800-39420600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:39413200-39420200	Weak transcription	Primary B cells from cord blood	blood
19	chr19:39413200-39420200	Weak transcription	NH-A	brain
20	chr19:39413200-39420200	Weak transcription	NHLF	lung
21	chr19:39413200-39420400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr19:39413200-39420400	Weak transcription	Fetal Kidney	kidney
23	chr19:39413200-39420800	Weak transcription	Aorta	Aorta
24	chr19:39414400-39419400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:39414800-39419200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:39415400-39420000	Weak transcription	NHEK	skin
27	chr19:39415400-39420200	Weak transcription	NHDF-Ad	bronchial
28	chr19:39415600-39420200	Weak transcription	Brain Angular Gyrus	brain
29	chr19:39415600-39420400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:39415600-39420400	Weak transcription	Colonic Mucosa	Colon
31	chr19:39415600-39420600	Weak transcription	Pancreas	Pancrea
32	chr19:39415800-39419600	Weak transcription	K562	blood
33	chr19:39415800-39420200	Weak transcription	Primary T cells from cord blood	blood
34	chr19:39415800-39420200	Weak transcription	HUVEC	blood vessel
35	chr19:39415800-39420400	Weak transcription	HSMM	muscle
36	chr19:39416200-39420200	Weak transcription	Brain Substantia Nigra	brain
37	chr19:39416200-39420200	Weak transcription	Osteobl	bone
38	chr19:39416400-39419800	Weak transcription	Left Ventricle	heart
39	chr19:39416400-39420000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:39416400-39420000	Weak transcription	Adipose Nuclei	Adipose
41	chr19:39416400-39420200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr19:39416400-39420200	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:39416400-39420200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:39416400-39420200	Weak transcription	HMEC	breast
45	chr19:39416400-39420400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:39416400-39420400	Weak transcription	HSMMtube	muscle
47	chr19:39416400-39420600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:39416400-39420600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr19:39416400-39420600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:39416600-39419000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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