Variant report

Variant	rs62120130
Chromosome Location	chr19:38471048-38471049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38420982..38422890-chr19:38471015..38472804,2	MCF-7	breast:
2	chr19:38421146..38425969-chr19:38469812..38473788,8	MCF-7	breast:
3	chr19:38470130..38474074-chr19:38479565..38484723,5	MCF-7	breast:
4	chr19:38429570..38433364-chr19:38470420..38473384,4	MCF-7	breast:
5	chr19:38459331..38461760-chr19:38470604..38472306,2	MCF-7	breast:
6	chr19:38394269..38398486-chr19:38470778..38473091,3	MCF-7	breast:
7	chr19:38395951..38398517-chr19:38469657..38472006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171804	Chromatin interaction
ENSG00000105738	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs62112272	0.90[EUR][1000 genomes]
rs62112273	0.90[EUR][1000 genomes]
rs62112274	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112275	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112277	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112279	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112280	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112282	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112285	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62112286	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62112287	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112288	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112289	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112290	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62112291	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62120128	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62120129	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62120131	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62120132	0.98[ASN][1000 genomes]
rs7257838	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7258680	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38461600-38472000	Weak transcription	NHDF-Ad	bronchial
2	chr19:38461600-38476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:38461600-38493600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:38461600-38493600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr19:38461800-38476800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:38462200-38471800	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:38463600-38476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:38463800-38476200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:38463800-38484800	Weak transcription	Fetal Stomach	stomach
10	chr19:38466000-38472400	Weak transcription	Primary T cells from cord blood	blood
11	chr19:38466000-38475800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:38467800-38471800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr19:38468000-38472000	Enhancers	Primary B cells from cord blood	blood
14	chr19:38468200-38471200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:38468200-38473600	Enhancers	Lung	lung
16	chr19:38468200-38474200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:38468200-38474600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:38468200-38475600	Enhancers	HMEC	breast
19	chr19:38468200-38475800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:38468200-38483600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr19:38468400-38473000	Enhancers	NH-A	brain
22	chr19:38468400-38473200	Enhancers	HSMM	muscle
23	chr19:38468800-38474000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:38469000-38471200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:38469000-38474200	Enhancers	Fetal Intestine Large	intestine
26	chr19:38469200-38471200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr19:38469200-38471400	Weak transcription	Osteobl	bone
28	chr19:38469200-38474800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:38469200-38479600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:38469800-38475800	Genic enhancers	Fetal Intestine Small	intestine
31	chr19:38470000-38472800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr19:38470200-38471400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:38470200-38471400	Flanking Active TSS	GM12878-XiMat	blood
34	chr19:38470200-38472000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:38470200-38472200	Enhancers	Duodenum Mucosa	Duodenum
36	chr19:38470200-38472200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr19:38470200-38472600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:38470200-38473200	Enhancers	Fetal Lung	lung
39	chr19:38470200-38474200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr19:38470200-38474200	Enhancers	Stomach Mucosa	stomach
41	chr19:38470200-38474400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr19:38470400-38471200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:38470400-38471200	Enhancers	Fetal Heart	heart
44	chr19:38470400-38471400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:38470400-38471400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:38470400-38471400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:38470400-38471400	Enhancers	Brain Cingulate Gyrus	brain
48	chr19:38470400-38471400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr19:38470400-38471400	Enhancers	NHLF	lung
50	chr19:38470400-38471600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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