Variant report

Variant	rs122730
Chromosome Location	chr5:127220271-127220272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127218363..127221289-chr5:127269313..127271970,2	MCF-7	breast:
2	chr5:127219412..127221913-chr5:127243574..127245487,2	MCF-7	breast:
3	chr5:127212385..127215145-chr5:127219355..127222619,3	MCF-7	breast:
4	chr5:127219396..127221268-chr5:127372444..127374595,2	MCF-7	breast:
5	chr5:127218008..127223291-chr5:127416858..127420836,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction
ENSG00000230561	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10042555	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058856	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs111941	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs111942	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs122731	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs122734	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12332194	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332385	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12332386	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332552	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421748	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1421749	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1421750	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1421751	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151853	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151855	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs151856	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs151858	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs151859	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151882	0.92[CEU][hapmap]
rs1520247	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs173444	1.00[ASN][1000 genomes]
rs187381	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193495	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2006195	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2108653	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409033	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245156	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245158	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs245160	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs245167	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245172	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245173	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245174	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245175	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245181	0.92[CEU][hapmap]
rs245186	0.88[CEU][hapmap]
rs245192	0.92[CEU][hapmap]
rs245195	0.96[CEU][hapmap]
rs245221	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245237	0.99[ASN][1000 genomes]
rs2544779	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544780	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681512	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764766	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127207800-127220800	Weak transcription	Brain Angular Gyrus	brain
2	chr5:127211600-127220600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:127212400-127220800	Weak transcription	Fetal Lung	lung
4	chr5:127214400-127221800	Weak transcription	Left Ventricle	heart
5	chr5:127215800-127220800	Weak transcription	Fetal Stomach	stomach
6	chr5:127216800-127221000	Enhancers	Stomach Mucosa	stomach
7	chr5:127217200-127221400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr5:127218400-127223200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:127219600-127221000	Enhancers	Small Intestine	intestine
10	chr5:127220000-127220400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:127220000-127220600	Enhancers	A549	lung
12	chr5:127220200-127221200	Enhancers	Brain Substantia Nigra	brain
13	chr5:127220200-127221200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:127220200-127221800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:127220200-127222000	Enhancers	Psoas Muscle	Psoas
16	chr5:127220200-127222200	Enhancers	Fetal Muscle Leg	muscle
17	chr5:127220200-127222200	Enhancers	HSMMtube	muscle
18	chr5:127220200-127222400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:127220200-127222600	Enhancers	Fetal Intestine Large	intestine
20	chr5:127220200-127222600	Enhancers	Fetal Intestine Small	intestine
21	chr5:127220200-127222800	Enhancers	HUVEC	blood vessel

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