Variant report

Variant	rs11807917
Chromosome Location	chr1:217217013-217217014
allele	A/G
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:18)

rs_ID	r²[population]
rs1004626	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863289	0.96[CEU][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11117756	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416530	0.99[ASN][1000 genomes]
rs1416531	0.88[ASW][hapmap];0.96[CEU][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1416535	0.82[YRI][hapmap]
rs17636912	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4085455	1.00[ASW][hapmap];0.96[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4846804	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4846806	0.83[LWK][hapmap];0.83[YRI][hapmap]
rs61816725	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61816726	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6688120	0.92[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs6694626	0.94[CEU][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7516529	0.82[YRI][hapmap]
rs7523193	0.86[YRI][hapmap]
rs7538474	0.88[ASW][hapmap];0.96[CEU][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs950581	0.82[YRI][hapmap]

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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217204800-217226000	Weak transcription	Fetal Kidney	kidney
2	chr1:217212000-217223200	Weak transcription	Gastric	stomach
3	chr1:217212600-217223000	Weak transcription	Pancreas	Pancrea
4	chr1:217212600-217224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:217213400-217240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:217215400-217226600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:217216000-217217400	Weak transcription	Left Ventricle	heart
8	chr1:217216000-217221000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:217216600-217217400	Weak transcription	Right Atrium	heart
10	chr1:217216600-217218000	Enhancers	Fetal Heart	heart
11	chr1:217216600-217225000	Weak transcription	Right Ventricle	heart
12	chr1:217216800-217218800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:217217000-217217800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:217217000-217218000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:217217000-217226600	Weak transcription	Brain Anterior Caudate	brain

Quick Search:

Input of quick search could be:

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

what's new

Quick links