Variant report

Variant	rs351407
Chromosome Location	chr1:212437442-212437443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212433329..212435940-chr1:212436148..212437997,2	K562	blood:
2	chr1:212432987..212434829-chr1:212436497..212438053,2	K562	blood:
3	chr1:212406214..212407731-chr1:212435193..212437929,2	K562	blood:
4	chr1:212428875..212432292-chr1:212434801..212437724,6	K562	blood:
5	chr1:212427899..212432292-chr1:212432529..212438731,7	K562	blood:
6	chr1:212404851..212407731-chr1:212434475..212437929,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10019	0.96[CEU][hapmap]
rs1009622	0.91[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs11119887	0.81[ASN][1000 genomes]
rs11119904	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12033246	0.96[CEU][hapmap]
rs12035647	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12036130	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12402397	0.84[JPT][hapmap]
rs1389371	0.92[CEU][hapmap];0.84[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17042034	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1774249	0.92[CEU][hapmap]
rs1992643	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2252044	0.96[CEU][hapmap]
rs2516331	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2589474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3099112	0.96[CEU][hapmap]
rs351373	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs351377	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351378	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351379	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351380	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs351386	0.96[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351393	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs351398	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs351401	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs351408	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351417	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs351419	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3767861	0.96[CEU][hapmap]
rs3767862	0.96[CEU][hapmap]
rs4951582	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951589	0.96[CEU][hapmap]
rs6540731	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs6540732	0.83[JPT][hapmap]
rs6540733	0.84[JPT][hapmap]
rs6668866	0.82[CHB][hapmap]
rs7415843	0.96[CEU][hapmap]
rs7519168	0.82[CHB][hapmap]
rs7519959	0.96[CEU][hapmap]
rs7544225	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv2461437	chr1:212436159-212437760	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs351407	C1orf75	Cis_1M	lymphoblastoid	RTeQTL
rs351407	TMEM206	cis	Esophagus Mucosa	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212435200-212445600	Weak transcription	Right Atrium	heart
2	chr1:212435400-212444600	Weak transcription	Stomach Mucosa	stomach
3	chr1:212435600-212444400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:212435800-212444800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:212436000-212442600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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