Variant report

Variant	rs2889937
Chromosome Location	chr1:222960167-222960168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222959012..222961255-chr1:222964820..222967601,2	K562	blood:
2	chr1:222959352..222961255-chr1:222964566..222966320,2	K562	blood:
3	chr1:222932221..222934925-chr1:222959124..222961923,2	K562	blood:
4	chr1:222928279..222930727-chr1:222957957..222960468,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11490203	0.83[EUR][1000 genomes]
rs11490204	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11490205	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17163484	0.95[ASN][1000 genomes]
rs17474556	0.82[ASN][1000 genomes]
rs17474745	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17533651	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17533810	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17533873	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378602	0.94[ASN][1000 genomes]
rs2889940	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34251271	0.95[ASN][1000 genomes]
rs34311160	0.83[EUR][1000 genomes]
rs34430931	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34494528	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs34643154	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34687048	0.94[ASN][1000 genomes]
rs34807177	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35292789	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35325797	0.94[ASN][1000 genomes]
rs35472374	0.94[ASN][1000 genomes]
rs35554894	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35651802	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35840203	0.94[ASN][1000 genomes]
rs35976854	0.97[ASN][1000 genomes]
rs3922772	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4011743	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4240935	0.84[EUR][1000 genomes]
rs4264001	0.95[ASN][1000 genomes]
rs4303078	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4322239	0.94[ASN][1000 genomes]
rs4424514	0.95[ASN][1000 genomes]
rs4472762	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4480364	0.94[ASN][1000 genomes]
rs4562632	0.97[ASN][1000 genomes]
rs4846387	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs61826464	0.94[ASN][1000 genomes]
rs61826465	0.94[ASN][1000 genomes]
rs61826467	0.94[ASN][1000 genomes]
rs61826474	0.95[ASN][1000 genomes]
rs61837141	0.95[ASN][1000 genomes]
rs61837143	0.95[ASN][1000 genomes]
rs61837144	0.88[ASN][1000 genomes]
rs61837147	0.95[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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222948200-222961600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:222953400-222968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:222957200-222960400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:222957200-222960400	Enhancers	Hela-S3	cervix
5	chr1:222957400-222961600	Enhancers	Fetal Lung	lung
6	chr1:222957800-222960200	Enhancers	HUVEC	blood vessel
7	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:222959000-222962200	Enhancers	Fetal Muscle Leg	muscle
9	chr1:222959400-222960200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:222959400-222960200	Enhancers	Brain Substantia Nigra	brain
11	chr1:222959600-222960600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:222959600-222960600	Enhancers	Fetal Stomach	stomach
13	chr1:222959600-222961000	Enhancers	Placenta	Placenta
14	chr1:222959600-222962400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:222959800-222960200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:222959800-222960200	Enhancers	Lung	lung
17	chr1:222959800-222960600	Enhancers	Colon Smooth Muscle	Colon
18	chr1:222959800-222961400	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:222959800-222966400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:222960000-222960200	Enhancers	Fetal Kidney	kidney
21	chr1:222960000-222961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:222960000-222964400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:222960000-222967800	Weak transcription	Stomach Mucosa	stomach

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