Variant report

Variant	rs6547681
Chromosome Location	chr2:86621870-86621871
allele	A/C
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	chr2:86620715..86623394-chr2:86849025..86850946,2	MCF-7	breast:
3	chr2:86619507..86623794-chr2:86667300..86670065,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10181540	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1105862	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105864	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105865	0.88[LWK][hapmap]
rs13405197	0.88[ASN][1000 genomes]
rs2276624	1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3731811	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3821013	0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41318646	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58449699	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58740162	1.00[ASN][1000 genomes]
rs58914241	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59064682	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59714766	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61748134	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6547683	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547684	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547685	0.88[LWK][hapmap]
rs6706736	0.84[AFR][1000 genomes]
rs6707865	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709505	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6730867	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731264	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731801	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736342	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744590	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748880	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751871	0.81[AFR][1000 genomes]
rs6756078	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72928446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73945294	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73949503	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73949512	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7568093	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7574555	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs870372	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870373	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949922	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86619600-86622000	Enhancers	Fetal Intestine Small	intestine
2	chr2:86619800-86622800	Enhancers	Psoas Muscle	Psoas
3	chr2:86620800-86623400	Weak transcription	Left Ventricle	heart
4	chr2:86621000-86623400	Weak transcription	Aorta	Aorta
5	chr2:86621000-86623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:86621200-86622400	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:86621400-86623200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:86621600-86622000	Enhancers	Stomach Mucosa	stomach
9	chr2:86621600-86622400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:86621600-86622800	Weak transcription	GM12878-XiMat	blood
11	chr2:86621600-86623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:86621600-86623000	Weak transcription	Brain Anterior Caudate	brain
13	chr2:86621600-86623000	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:86621600-86623000	Weak transcription	Brain Substantia Nigra	brain
15	chr2:86621600-86623200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:86621600-86623200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:86621600-86623200	Weak transcription	Pancreas	Pancrea
18	chr2:86621600-86623200	Weak transcription	HSMM	muscle
19	chr2:86621600-86623400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:86621600-86624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:86621600-86631000	Weak transcription	Gastric	stomach
22	chr2:86621800-86622800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:86621800-86625000	Weak transcription	HSMMtube	muscle

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