Variant report

Variant	rs6432228
Chromosome Location	chr2:11827277-11827278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11683416..11684960-chr2:11826998..11829843,2	MCF-7	breast:
2	chr2:11634107..11636070-chr2:11826833..11828580,2	MCF-7	breast:
3	chr2:11821773..11824708-chr2:11826423..11828172,3	K562	blood:
4	chr2:11622770..11625345-chr2:11826653..11829595,2	MCF-7	breast:
5	chr2:11825505..11827525-chr2:11905750..11908186,2	K562	blood:
6	chr2:11827186..11829449-chr2:11917800..11920938,3	K562	blood:
7	chr2:11826228..11828795-chr2:11831285..11833556,4	MCF-7	breast:
8	chr2:11821199..11824708-chr2:11826185..11828507,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10169592	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180912	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11884930	0.81[EUR][1000 genomes]
rs4389306	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6432227	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432230	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6432231	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7597788	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7598716	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv527025	chr2:11823585-11833459	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11818000-11828200	Weak transcription	Right Atrium	heart
2	chr2:11818400-11828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:11818400-11828400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:11821400-11827800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:11822600-11828200	Weak transcription	Pancreas	Pancrea
6	chr2:11822800-11827600	Weak transcription	Hela-S3	cervix
7	chr2:11823000-11828200	Weak transcription	Psoas Muscle	Psoas
8	chr2:11824200-11827800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:11824200-11828200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:11824200-11828200	Weak transcription	Brain Anterior Caudate	brain
11	chr2:11824400-11827800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:11826000-11827800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:11826400-11827600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:11826800-11827800	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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