Variant report

Variant	rs62489334
Chromosome Location	chr7:129390401-129390402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129388926..129391795-chr7:129396383..129398661,2	MCF-7	breast:
2	chr7:129358443..129361944-chr7:129389455..129392209,3	K562	blood:
3	chr7:129358443..129361588-chr7:129390162..129392270,3	K562	blood:
4	chr7:129388426..129393265-chr7:129394279..129399447,9	K562	blood:
5	chr7:129389134..129391918-chr7:129464788..129466826,2	MCF-7	breast:
6	chr7:129386194..129388656-chr7:129389433..129393027,3	K562	blood:
7	chr7:129389570..129391224-chr7:129418594..129421023,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212238	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12535925	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12537627	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537713	0.84[EUR][1000 genomes]
rs12538512	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540281	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239849	0.84[EUR][1000 genomes]
rs13241028	1.00[ASN][1000 genomes]
rs13246347	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806626	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2402974	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34783564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35240725	0.84[EUR][1000 genomes]
rs35343997	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35629686	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731610	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731611	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731613	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731618	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59675752	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62489293	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71583713	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71583720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813824	chr7:129379450-129424461	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
2	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 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	chr7:129348200-129392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr7:129351600-129394800	Weak transcription	Hela-S3	cervix
3	chr7:129357000-129392400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:129360600-129394800	Weak transcription	Small Intestine	intestine
5	chr7:129361800-129392400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:129364200-129397600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:129366800-129399400	Weak transcription	Fetal Kidney	kidney
8	chr7:129369600-129399400	Weak transcription	Fetal Brain Male	brain
9	chr7:129372200-129397800	Weak transcription	NH-A	brain
10	chr7:129372400-129398800	Weak transcription	NHLF	lung
11	chr7:129373800-129392000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:129374600-129394800	Weak transcription	Gastric	stomach
13	chr7:129375000-129391600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:129375000-129394800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:129375000-129395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:129375800-129392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:129376600-129393000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr7:129376600-129397200	Strong transcription	Dnd41	blood
19	chr7:129376800-129392200	Strong transcription	Primary T cells from cord blood	blood
20	chr7:129377200-129392800	Strong transcription	Thymus	Thymus
21	chr7:129379800-129400400	Weak transcription	HSMM	muscle
22	chr7:129380000-129394800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:129380000-129397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:129380000-129406600	Weak transcription	HSMMtube	muscle
25	chr7:129380400-129394800	Weak transcription	A549	lung
26	chr7:129380800-129391400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:129380800-129397800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:129381200-129392600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:129381800-129391800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:129381800-129404200	Weak transcription	HepG2	liver
31	chr7:129381800-129415600	Weak transcription	Pancreas	Pancrea
32	chr7:129382000-129392200	Strong transcription	Fetal Thymus	thymus
33	chr7:129382000-129398400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:129382200-129392000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:129382400-129391800	Strong transcription	Fetal Muscle Leg	muscle
36	chr7:129382400-129394800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:129382400-129395400	Weak transcription	Right Ventricle	heart
38	chr7:129382400-129395800	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:129382400-129396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:129382400-129408600	Weak transcription	Right Atrium	heart
41	chr7:129382400-129408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:129382600-129391800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr7:129382600-129407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:129382800-129390600	Weak transcription	Brain Germinal Matrix	brain
45	chr7:129382800-129394800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:129382800-129411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:129383400-129395200	Weak transcription	Brain Angular Gyrus	brain
48	chr7:129383400-129395800	Weak transcription	Brain Anterior Caudate	brain
49	chr7:129383400-129398400	Weak transcription	Brain Substantia Nigra	brain
50	chr7:129383600-129394800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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