Variant report

Variant	rs851171
Chromosome Location	chr1:223349020-223349021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223347792..223351314-chr1:223536155..223539425,4	MCF-7	breast:
2	chr1:223348177..223349036-chr1:223518828..223519736,4	MCF-7	breast:
3	chr1:223347773..223350235-chr1:223355257..223357879,2	K562	blood:
4	chr1:223348196..223351831-chr1:223853498..223856683,4	MCF-7	breast:
5	chr1:223316299..223318079-chr1:223347833..223351056,3	MCF-7	breast:
6	chr1:223347406..223350324-chr1:223382149..223383994,2	K562	blood:
7	chr1:223348245..223349466-chr1:223871619..223872551,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction
ENSG00000143502	Chromatin interaction
ENSG00000236846	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12122451	0.95[CEU][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1341987	0.92[CHD][hapmap];0.81[JPT][hapmap]
rs17609948	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17661703	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773755	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1773756	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773757	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773758	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2096141	0.97[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2096142	0.97[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2247421	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353475	0.93[ASN][1000 genomes]
rs2353476	0.97[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2353477	0.82[ASN][1000 genomes]
rs2883182	0.93[ASN][1000 genomes]
rs34849527	0.93[ASN][1000 genomes]
rs35442320	0.93[ASN][1000 genomes]
rs35511158	0.94[ASN][1000 genomes]
rs4140967	0.95[CEU][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5744105	0.92[ASN][1000 genomes]
rs5744113	0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5744129	0.83[ASN][1000 genomes]
rs61837564	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61837568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61837569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61837573	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61837574	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61837575	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61837576	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61837577	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67947164	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs723960	0.93[ASN][1000 genomes]
rs72743863	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72743865	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743873	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72743881	0.84[AMR][1000 genomes]
rs851166	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9442047	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs9442048	0.96[ASN][1000 genomes]
rs975089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs851171	SUSD4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223347800-223357600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:223348200-223349800	Enhancers	Liver	Liver
3	chr1:223348400-223349200	Enhancers	Placenta	Placenta
4	chr1:223348600-223350200	Enhancers	Esophagus	oesophagus
5	chr1:223348600-223352200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:223348600-223352200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:223348800-223349400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:223348800-223350000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:223348800-223352400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:223348800-223355400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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