Variant report

Variant	rs17114816
Chromosome Location	chr1:57481883-57481884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57479454..57482343-chr1:57482459..57484417,2	MCF-7	breast:
2	chr1:57479613..57481966-chr1:57490580..57493279,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11206942	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11206954	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11206955	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11206958	0.86[ASN][1000 genomes]
rs11206961	0.82[ASN][1000 genomes]
rs11206962	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11589281	0.82[ASN][1000 genomes]
rs11810899	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12035887	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12036280	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12062362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12082861	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12118564	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12144161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1329448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1329451	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17114695	0.81[AMR][1000 genomes]
rs1831871	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1854508	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2026083	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3738558	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3754268	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3768200	0.83[ASN][1000 genomes]
rs3768201	0.86[ASN][1000 genomes]
rs3768202	0.86[ASN][1000 genomes]
rs3768203	0.86[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3768204	0.86[ASN][1000 genomes]
rs3768205	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3768206	0.86[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3768209	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3768211	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3820578	0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs3820579	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3820581	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912233	0.86[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4912420	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4912422	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4912423	0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs6668180	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6668269	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6676740	1.00[CEU][hapmap];1.00[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];0.96[ASN][1000 genomes]
rs6679906	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6681325	0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs697580	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs706353	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs706357	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs706360	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs706361	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs706364	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs72917455	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7533953	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs835447	0.86[ASN][1000 genomes]
rs944923	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs952703	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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
rs17114816	C8B	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57460400-57483000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:57463800-57482200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:57471200-57482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:57472600-57484400	Weak transcription	Fetal Brain Male	brain
5	chr1:57474200-57490200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:57476000-57482400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:57477600-57490200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:57479400-57487000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:57479800-57482800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:57479800-57484800	Weak transcription	Fetal Heart	heart
11	chr1:57480000-57484400	Weak transcription	Liver	Liver
12	chr1:57480400-57483000	Strong transcription	Fetal Intestine Small	intestine
13	chr1:57481000-57482800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:57481600-57484400	Weak transcription	Fetal Brain Female	brain
15	chr1:57481600-57490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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