Variant report

Variant	rs2092312
Chromosome Location	chr1:168797147-168797148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168795902..168797646-chr1:168799852..168802336,3	K562	blood:
2	chr1:168792989..168797367-chr1:169074002..169077779,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10800385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800387	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10800388	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10918991	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10918992	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10918999	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12030111	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12035896	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12047566	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs200558	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs200565	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs200571	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2206295	0.90[EUR][1000 genomes]
rs2206296	0.90[EUR][1000 genomes]
rs2419382	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6670747	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6679675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683811	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6695006	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6698634	1.00[YRI][hapmap]
rs6704039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704296	0.95[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv464250	chr1:168772393-168826032	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv548145	chr1:168772393-168826032	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168793800-168803200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168794000-168801600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:168794000-168802800	Weak transcription	Gastric	stomach
4	chr1:168795200-168797400	Enhancers	Colon Smooth Muscle	Colon
5	chr1:168795600-168801600	Weak transcription	Fetal Stomach	stomach
6	chr1:168796000-168798800	Weak transcription	Fetal Heart	heart
7	chr1:168796400-168797800	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:168797000-168798200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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