Variant report

Variant	rs6547685
Chromosome Location	chr2:86625528-86625529
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86621403..86626884-chr2:86666803..86669988,9	MCF-7	breast:
2	chr2:86616684..86621383-chr2:86622282..86625754,5	K562	blood:
3	chr2:86625137..86627583-chr2:86669030..86671469,2	K562	blood:
4	chr2:86421249..86424265-chr2:86622916..86627060,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273080	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10180036	0.82[CHB][hapmap]
rs10451666	1.00[CEU][hapmap]
rs1105862	1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1105863	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1105864	0.91[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1105865	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714186	0.82[CHB][hapmap]
rs13387570	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13425101	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1863062	1.00[CEU][hapmap]
rs2292887	0.82[CHB][hapmap]
rs3821015	1.00[CEU][hapmap]
rs56026070	0.87[ASN][1000 genomes]
rs56673455	0.87[ASN][1000 genomes]
rs6547681	0.88[LWK][hapmap]
rs6547683	0.92[AFR][1000 genomes]
rs6547684	0.92[AFR][1000 genomes]
rs6706736	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723711	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6737677	0.89[ASN][1000 genomes]
rs6743884	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586057	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7589635	0.87[ASN][1000 genomes]
rs870372	0.92[AFR][1000 genomes]
rs870373	0.92[AFR][1000 genomes]
rs870374	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs870375	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs958561	0.82[CHB][hapmap]

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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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	45 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	chr2:86621600-86631000	Weak transcription	Gastric	stomach
2	chr2:86623600-86626000	Weak transcription	HSMM	muscle
3	chr2:86623600-86627000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:86623800-86626200	Weak transcription	Aorta	Aorta
5	chr2:86623800-86626400	Weak transcription	Psoas Muscle	Psoas
6	chr2:86624800-86625600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:86625000-86628000	Enhancers	HSMMtube	muscle
8	chr2:86625400-86626200	Enhancers	K562	blood

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