Variant report

Variant	rs17044730
Chromosome Location	chr1:217157748-217157749
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10492956	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs10863283	0.89[JPT][hapmap]
rs11117730	0.89[JPT][hapmap]
rs11572433	1.00[MEX][hapmap]
rs11572486	0.89[JPT][hapmap]
rs12406424	0.98[ASN][1000 genomes]
rs12407025	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1579635	0.89[JPT][hapmap]
rs17041541	1.00[ASW][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17044553	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs17044557	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17044582	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17044837	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs2185225	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74141713	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7417600	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	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
4	nsv1008670	chr1:217155114-217206765	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1012243	chr1:217157000-217206765	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1006155	chr1:217157000-217215465	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1004880	chr1:217157748-217206765	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217156600-217158200	Enhancers	Psoas Muscle	Psoas
2	chr1:217156800-217157800	Enhancers	Fetal Heart	heart
3	chr1:217157200-217157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:217157200-217158000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:217157200-217158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:217157200-217158200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:217157200-217158200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:217157400-217158000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:217157400-217194400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:217157600-217158000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:217157600-217158000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:217157600-217158000	Enhancers	Brain Anterior Caudate	brain
13	chr1:217157600-217158200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:217157600-217158200	Enhancers	Brain Substantia Nigra	brain
15	chr1:217157600-217158800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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