Variant report

Variant	rs6424975
Chromosome Location	chr1:185300032-185300033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185297615..185300332-chr1:185301504..185303093,2	K562	blood:
2	chr1:185285397..185289190-chr1:185299692..185306897,6	K562	blood:
3	chr1:185284226..185288398-chr1:185298111..185303024,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261024	Chromatin interaction
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10157996	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs10737258	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs10752948	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10798003	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10798004	0.91[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs10798006	0.85[ASN][1000 genomes]
rs10911700	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10911706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911711	0.86[EUR][1000 genomes]
rs12096987	0.95[JPT][hapmap]
rs12135172	0.95[JPT][hapmap]
rs12135769	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12136040	0.83[ASN][1000 genomes]
rs1336753	0.82[ASN][1000 genomes]
rs1889976	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2095610	0.82[ASN][1000 genomes]
rs2207518	0.83[EUR][1000 genomes]
rs2207519	0.83[EUR][1000 genomes]
rs2295212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34611062	0.83[ASN][1000 genomes]
rs4651253	0.84[EUR][1000 genomes]
rs57977436	0.83[ASN][1000 genomes]
rs6424976	0.96[CEU][hapmap]
rs6659669	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs6665186	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6666742	0.95[JPT][hapmap]
rs6679327	0.84[EUR][1000 genomes]
rs6682074	0.85[EUR][1000 genomes]
rs6682891	0.91[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs6689206	0.84[EUR][1000 genomes]
rs7537341	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7539575	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7539658	0.95[JPT][hapmap]
rs7542721	0.83[ASN][1000 genomes]
rs7548599	0.82[EUR][1000 genomes]
rs9988622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6424975	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185295000-185302200	Weak transcription	K562	blood
2	chr1:185298400-185305200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:185299800-185303000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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