Variant report

Variant	rs3901488
Chromosome Location	chr12:68337584-68337585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10878700	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878701	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176953	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309752	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12309845	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12314296	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12315396	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2906848	0.81[EUR][1000 genomes]
rs2930110	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930113	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3014993	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741646	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3850593	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56236103	0.83[EUR][1000 genomes]
rs7134358	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7969459	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68333200-68337800	Enhancers	Fetal Heart	heart
2	chr12:68334400-68337800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:68334600-68339000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr12:68335000-68338400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:68335200-68337800	Enhancers	HSMMtube	muscle
6	chr12:68336000-68337600	Enhancers	HSMM	muscle
7	chr12:68336200-68337600	Enhancers	Brain Germinal Matrix	brain
8	chr12:68336400-68337600	Enhancers	Colon Smooth Muscle	Colon
9	chr12:68336400-68337600	Enhancers	NHDF-Ad	bronchial
10	chr12:68336600-68337600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:68336600-68337600	Enhancers	Brain Anterior Caudate	brain
12	chr12:68336600-68337600	Enhancers	Fetal Brain Male	brain
13	chr12:68336800-68340000	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:68336800-68341000	Weak transcription	Psoas Muscle	Psoas
15	chr12:68337000-68337600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:68337000-68337600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:68337000-68337600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:68337000-68338400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:68337200-68337600	Enhancers	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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