Variant report

Variant	rs492986
Chromosome Location	chr1:57717488-57717489
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	chr1:57710451..57711985-chr1:57716837..57718696,2	MCF-7	breast:
2	chr1:57683471..57685888-chr1:57717054..57719218,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10889033	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207002	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11587719	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12088611	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12143340	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs127600	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1811699	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1811700	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197625	0.84[EUR][1000 genomes]
rs197626	0.85[EUR][1000 genomes]
rs197627	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs197635	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs197636	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs197637	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs197638	0.85[EUR][1000 genomes]
rs197639	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs197640	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs197641	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs197642	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs197643	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197644	0.86[EUR][1000 genomes]
rs197645	0.86[EUR][1000 genomes]
rs197647	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197649	0.86[EUR][1000 genomes]
rs197650	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1991093	0.81[ASN][1000 genomes]
rs2251472	0.85[EUR][1000 genomes]
rs2764664	0.86[ASN][1000 genomes]
rs2764666	0.86[ASN][1000 genomes]
rs471548	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs485723	0.84[ASN][1000 genomes]
rs488405	0.86[EUR][1000 genomes]
rs492905	0.86[EUR][1000 genomes]
rs493846	0.86[EUR][1000 genomes]
rs501921	0.82[ASN][1000 genomes]
rs508389	0.81[ASN][1000 genomes]
rs515802	0.86[EUR][1000 genomes]
rs524171	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529527	0.86[EUR][1000 genomes]
rs539229	0.85[EUR][1000 genomes]
rs542873	0.86[EUR][1000 genomes]
rs542949	0.86[EUR][1000 genomes]
rs552727	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs561531	0.86[ASN][1000 genomes]
rs572092	0.86[EUR][1000 genomes]
rs583845	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs593154	0.85[EUR][1000 genomes]
rs595513	0.82[ASN][1000 genomes]
rs610360	0.82[ASN][1000 genomes]
rs611276	0.86[EUR][1000 genomes]
rs611606	0.81[ASN][1000 genomes]
rs614488	0.86[EUR][1000 genomes]
rs627489	0.86[EUR][1000 genomes]
rs627936	0.86[EUR][1000 genomes]
rs643382	0.84[ASN][1000 genomes]
rs648607	0.86[ASN][1000 genomes]
rs655277	0.86[EUR][1000 genomes]
rs659069	0.86[EUR][1000 genomes]
rs669931	0.86[EUR][1000 genomes]
rs674966	0.86[ASN][1000 genomes]
rs680197	0.82[ASN][1000 genomes]
rs686702	0.81[EUR][1000 genomes]
rs693942	0.86[EUR][1000 genomes]
rs7529737	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924850	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	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
3	esv2754702	chr1:57716116-57743244	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57712400-57718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57712400-57728000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:57712600-57727800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57712800-57731200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:57715200-57718400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:57715800-57718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:57716600-57718800	Weak transcription	Fetal Brain Female	brain
8	chr1:57717000-57718200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:57717200-57717800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:57717200-57726200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:57717400-57717800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:57717400-57717800	Enhancers	Fetal Brain Male	brain
13	chr1:57717400-57718400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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