Variant report

Variant	rs7514213
Chromosome Location	chr1:47937532-47937533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47933954..47935903-chr1:47936440..47938746,2	MCF-7	breast:
2	chr1:47935019..47937863-chr1:47961957..47963491,2	K562	blood:
3	chr1:47927907..47930707-chr1:47937413..47940085,2	MCF-7	breast:
4	chr1:47935982..47938205-chr1:47941085..47943640,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10218615	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789509	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890480	0.80[ASN][1000 genomes]
rs11211489	0.86[ASN][1000 genomes]
rs11211490	0.86[ASN][1000 genomes]
rs11211492	0.86[ASN][1000 genomes]
rs11211495	0.86[ASN][1000 genomes]
rs11211500	0.86[ASN][1000 genomes]
rs11211505	0.86[ASN][1000 genomes]
rs11211512	0.86[ASN][1000 genomes]
rs11211533	0.80[ASN][1000 genomes]
rs11211537	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577960	0.86[ASN][1000 genomes]
rs11578360	0.86[ASN][1000 genomes]
rs11580114	0.86[ASN][1000 genomes]
rs11580148	0.86[ASN][1000 genomes]
rs11583162	0.86[ASN][1000 genomes]
rs11587014	0.86[ASN][1000 genomes]
rs11587107	0.86[ASN][1000 genomes]
rs11588964	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065137	0.80[ASN][1000 genomes]
rs12080109	0.80[ASN][1000 genomes]
rs12118205	0.86[ASN][1000 genomes]
rs12118206	0.86[ASN][1000 genomes]
rs12123358	0.86[ASN][1000 genomes]
rs12129594	0.86[ASN][1000 genomes]
rs12131978	0.86[ASN][1000 genomes]
rs12132909	0.86[ASN][1000 genomes]
rs12143808	0.86[ASN][1000 genomes]
rs12145974	0.86[ASN][1000 genomes]
rs12184262	0.86[ASN][1000 genomes]
rs12184269	0.86[ASN][1000 genomes]
rs12184297	0.86[ASN][1000 genomes]
rs12406951	0.86[ASN][1000 genomes]
rs12407463	0.86[ASN][1000 genomes]
rs12410850	0.86[ASN][1000 genomes]
rs12729251	0.86[ASN][1000 genomes]
rs12732067	0.83[AMR][1000 genomes]
rs12735320	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12738065	0.86[ASN][1000 genomes]
rs12751405	0.80[ASN][1000 genomes]
rs13374382	0.86[ASN][1000 genomes]
rs13376679	0.86[ASN][1000 genomes]
rs1572546	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17103095	0.86[ASN][1000 genomes]
rs2097	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405787	0.86[ASN][1000 genomes]
rs2897238	0.86[ASN][1000 genomes]
rs33980430	0.86[ASN][1000 genomes]
rs4480403	0.80[ASN][1000 genomes]
rs56804458	0.86[ASN][1000 genomes]
rs58891696	0.86[ASN][1000 genomes]
rs6660651	0.86[ASN][1000 genomes]
rs6665067	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6670458	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688804	0.86[ASN][1000 genomes]
rs6691723	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs67905093	0.86[ASN][1000 genomes]
rs71502303	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686209	0.86[ASN][1000 genomes]
rs7354822	0.86[ASN][1000 genomes]
rs7525802	0.80[ASN][1000 genomes]
rs7548099	0.86[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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47934400-47950600	Weak transcription	Right Atrium	heart
2	chr1:47935000-47940000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:47935000-47943400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:47935000-47943600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:47935000-47943600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:47936000-47945400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:47936600-47937600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:47936800-47937800	Enhancers	Stomach Mucosa	stomach
9	chr1:47937000-47942600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:47937200-47937600	Enhancers	Adipose Nuclei	Adipose

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