Variant report

Variant	rs2006195
Chromosome Location	chr5:127216523-127216524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127211793..127217903-chr5:127417278..127420388,8	MCF-7	breast:
2	chr5:127208944..127216752-chr5:127415805..127421659,21	MCF-7	breast:
3	chr5:127216027..127217529-chr5:127303056..127305148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10042555	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10058856	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs111941	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs111942	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs122730	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs122731	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs122734	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12332194	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12332385	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12332386	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12332552	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1421748	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1421749	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1421750	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1421751	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs151853	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151855	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151856	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151858	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151859	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1520247	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs173444	0.99[ASN][1000 genomes]
rs187381	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs193495	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2108653	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2409033	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245156	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245158	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245160	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245167	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245172	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245173	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245174	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245175	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245221	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs245237	0.98[ASN][1000 genomes]
rs2544779	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2544780	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2681512	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2764766	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127207800-127220800	Weak transcription	Brain Angular Gyrus	brain
2	chr5:127211600-127216800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:127211600-127220600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:127212200-127219600	Weak transcription	Small Intestine	intestine
5	chr5:127212400-127217200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:127212400-127217200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:127212400-127220200	Weak transcription	Psoas Muscle	Psoas
8	chr5:127212400-127220800	Weak transcription	Fetal Lung	lung
9	chr5:127212600-127218400	Weak transcription	Fetal Kidney	kidney
10	chr5:127213800-127218200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:127214000-127218400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:127214400-127216800	Weak transcription	Stomach Mucosa	stomach
13	chr5:127214400-127217000	Weak transcription	A549	lung
14	chr5:127214400-127218000	Weak transcription	Fetal Intestine Small	intestine
15	chr5:127214400-127218400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:127214400-127219600	Weak transcription	Fetal Intestine Large	intestine
17	chr5:127214400-127219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:127214400-127220200	Weak transcription	Brain Substantia Nigra	brain
19	chr5:127214400-127221800	Weak transcription	Left Ventricle	heart
20	chr5:127215800-127220800	Weak transcription	Fetal Stomach	stomach

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