Variant report

Variant	rs72908283
Chromosome Location	chr2:173781705-173781706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10514633	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1104635	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17704262	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17704332	0.90[EUR][1000 genomes]
rs17704976	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705358	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705390	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705429	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705626	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705739	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705834	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705852	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17706174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17706349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17706854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17706880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17755063	0.90[EUR][1000 genomes]
rs17755348	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756405	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756703	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756739	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756834	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17757877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900203	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900214	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900223	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900226	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900228	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900229	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900230	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72900235	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900248	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902287	0.90[EUR][1000 genomes]
rs72902296	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72906101	0.83[AMR][1000 genomes]
rs72906193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908114	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908118	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908120	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908147	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908174	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908191	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908195	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908196	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908198	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908199	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908218	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72908222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908230	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908285	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7420491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs951314	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs951315	1.00[AMR][1000 genomes];0.90[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173764400-173792600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173769200-173792400	Weak transcription	Fetal Kidney	kidney
3	chr2:173772000-173786000	Weak transcription	Right Atrium	heart
4	chr2:173774000-173786000	Weak transcription	Lung	lung
5	chr2:173775000-173783400	Weak transcription	GM12878-XiMat	blood
6	chr2:173777200-173788800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:173780200-173784200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:173780600-173782000	Enhancers	Thymus	Thymus
9	chr2:173780800-173782600	Enhancers	Fetal Thymus	thymus
10	chr2:173781000-173785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:173781400-173782200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:173781400-173782400	Enhancers	Brain Germinal Matrix	brain
13	chr2:173781600-173782400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:173781600-173782800	Enhancers	Fetal Brain Female	brain

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