Variant report

Variant	rs648607
Chromosome Location	chr1:57747403-57747404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57746941..57748529-chr1:57761920..57764175,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10889033	0.88[ASN][1000 genomes]
rs11207002	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1149628	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11587719	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12088611	0.88[ASN][1000 genomes]
rs12135189	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12143340	0.88[ASN][1000 genomes]
rs1424473	0.81[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs1811699	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1811700	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs197627	0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs197643	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs197647	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs197650	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1991093	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2432690	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2656095	1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.83[ASN][1000 genomes]
rs2764664	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764665	0.86[MEX][hapmap]
rs2764666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471548	0.87[ASN][1000 genomes]
rs485723	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492781	1.00[ASW][hapmap];0.87[GIH][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs492986	0.86[ASN][1000 genomes]
rs499397	0.81[MEX][hapmap]
rs501921	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs501970	0.88[ASN][1000 genomes]
rs508389	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs511707	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs524171	0.86[ASN][1000 genomes]
rs545582	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs545671	0.86[ASN][1000 genomes]
rs561531	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568843	0.86[ASN][1000 genomes]
rs576038	0.86[ASN][1000 genomes]
rs581886	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs583845	0.86[ASN][1000 genomes]
rs584147	0.86[MEX][hapmap]
rs595513	1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs596784	0.92[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs597941	0.89[TSI][hapmap]
rs610360	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs611276	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs611606	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs622423	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs627550	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs632935	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs634391	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs637379	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs642526	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs643382	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs659069	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs663975	0.81[MEX][hapmap];0.89[TSI][hapmap]
rs674966	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680197	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs706385	0.81[LWK][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap]
rs7529737	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs833626	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs924850	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][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	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs648607	ACOT11	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57741800-57749400	Enhancers	Fetal Intestine Small	intestine
2	chr1:57742000-57749200	Enhancers	Liver	Liver
3	chr1:57742200-57755400	Weak transcription	Fetal Brain Male	brain
4	chr1:57744400-57749600	Enhancers	Fetal Intestine Large	intestine
5	chr1:57744600-57751200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:57745400-57747600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:57745400-57748200	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:57745600-57748200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:57745800-57747600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:57746000-57747600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:57747000-57747800	Weak transcription	Fetal Brain Female	brain
12	chr1:57747000-57748200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:57747400-57748800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:57747400-57749200	Enhancers	HepG2	liver

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