Variant report

Variant	rs59354031
Chromosome Location	chr1:212437757-212437758
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	chr1:212427899..212432292-chr1:212432529..212438731,7	K562	blood:
5	chr1:212404851..212407731-chr1:212434475..212437929,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10157725	1.00[AMR][1000 genomes]
rs10465692	1.00[AMR][1000 genomes]
rs13375351	1.00[AMR][1000 genomes]
rs1663629	1.00[AMR][1000 genomes]
rs1774254	1.00[AMR][1000 genomes]
rs2921126	1.00[AMR][1000 genomes]
rs3121292	1.00[AMR][1000 genomes]
rs351389	1.00[AMR][1000 genomes]
rs351411	1.00[AMR][1000 genomes]
rs351412	1.00[AMR][1000 genomes]
rs351415	1.00[AMR][1000 genomes]
rs56056407	1.00[AMR][1000 genomes]
rs56087556	1.00[AMR][1000 genomes]
rs56160775	1.00[AMR][1000 genomes]
rs56909493	1.00[AMR][1000 genomes]
rs57517430	1.00[AMR][1000 genomes]
rs58193366	1.00[AMR][1000 genomes]
rs58843897	1.00[AMR][1000 genomes]
rs60404556	1.00[AMR][1000 genomes]
rs61460239	1.00[AMR][1000 genomes]
rs61682449	1.00[AMR][1000 genomes]
rs701909	1.00[AMR][1000 genomes]
rs74138106	1.00[AMR][1000 genomes]
rs74138118	1.00[AMR][1000 genomes]
rs74138120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138123	1.00[AMR][1000 genomes]
rs74138132	1.00[AMR][1000 genomes]
rs74138133	1.00[AMR][1000 genomes]
rs74138134	1.00[AMR][1000 genomes]
rs74138135	1.00[AMR][1000 genomes]
rs74138136	1.00[AMR][1000 genomes]
rs74138137	1.00[AMR][1000 genomes]
rs74138138	1.00[AMR][1000 genomes]
rs74138139	1.00[AMR][1000 genomes]
rs74140412	1.00[AMR][1000 genomes]
rs792432	1.00[AMR][1000 genomes]
rs811040	1.00[AMR][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

No data

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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