Variant report

Variant	rs62119430
Chromosome Location	chr2:9748419-9748420
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9746496..9749378-chr2:9771144..9772887,2	MCF-7	breast:
2	chr2:9747634..9749510-chr2:9768569..9771290,2	MCF-7	breast:
3	chr2:9695637..9698629-chr2:9748252..9750554,2	K562	blood:

Variant related genes	Relation type
ENSG00000151694	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11888902	0.95[EUR][1000 genomes]
rs11902431	0.94[EUR][1000 genomes]
rs12465158	0.90[EUR][1000 genomes]
rs12470619	0.90[EUR][1000 genomes]
rs12476008	0.97[EUR][1000 genomes]
rs16867062	0.91[EUR][1000 genomes]
rs16867073	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867074	0.97[EUR][1000 genomes]
rs41308184	0.93[EUR][1000 genomes]
rs4669401	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62119390	0.90[EUR][1000 genomes]
rs62119425	0.94[EUR][1000 genomes]
rs6715408	0.93[EUR][1000 genomes]
rs7597961	1.00[EUR][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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62119430	LOC645233///LOC732360///TDG	trans	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9741400-9752600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:9741400-9760000	Weak transcription	Fetal Kidney	kidney
4	chr2:9741600-9751000	Weak transcription	Fetal Intestine Large	intestine
5	chr2:9741800-9752600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:9742000-9753600	Weak transcription	Fetal Lung	lung
7	chr2:9742200-9751200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:9742200-9757000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:9742400-9753400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:9742800-9752400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:9742800-9757800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:9743400-9748600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:9744400-9749600	Weak transcription	Brain Germinal Matrix	brain
14	chr2:9744600-9755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:9744800-9766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:9746800-9752800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:9747600-9748600	Strong transcription	Dnd41	blood
18	chr2:9747600-9748800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:9747600-9748800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:9747600-9748800	Enhancers	Placenta	Placenta
21	chr2:9747600-9748800	Enhancers	Right Ventricle	heart
22	chr2:9747600-9748800	Enhancers	HMEC	breast
23	chr2:9747600-9749000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:9747600-9749200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:9747600-9749200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr2:9747600-9749200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:9747600-9749200	Enhancers	Hela-S3	cervix
28	chr2:9747600-9751600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:9747800-9748600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr2:9747800-9748600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr2:9747800-9748800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr2:9747800-9748800	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr2:9747800-9748800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr2:9747800-9748800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:9747800-9749000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:9747800-9749000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:9747800-9749000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:9747800-9749000	Enhancers	Fetal Thymus	thymus
39	chr2:9747800-9749000	Enhancers	Psoas Muscle	Psoas
40	chr2:9747800-9750200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:9747800-9751400	Enhancers	Fetal Heart	heart
42	chr2:9747800-9760200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:9748000-9748600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:9748000-9748600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:9748000-9748600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr2:9748000-9748600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:9748000-9748600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:9748000-9748600	Active TSS	Aorta	Aorta
49	chr2:9748000-9748600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:9748000-9748600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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