Variant report

Variant	rs12211281
Chromosome Location	chr6:39147179-39147180
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:39147161..39148825-chr6:39159496..39161252,2	K562	blood:
2	chr6:39146393..39149644-chr6:39153708..39157375,4	K562	blood:
3	chr6:39135364..39137798-chr6:39146976..39150175,3	K562	blood:
4	chr6:39145278..39148040-chr6:39193328..39197491,3	K562	blood:
5	chr6:39146215..39148913-chr6:39269564..39272045,2	MCF-7	breast:
6	chr6:39136826..39139018-chr6:39145230..39147827,2	MCF-7	breast:
7	chr6:39145356..39147354-chr6:39149327..39151993,3	K562	blood:
8	chr6:39145278..39148548-chr6:39191713..39196059,4	K562	blood:
9	chr6:39144434..39148189-chr6:39148364..39150360,3	K562	blood:
10	chr6:39145690..39147325-chr6:39148809..39151666,2	MCF-7	breast:
11	chr6:39146675..39149644-chr6:39153708..39155552,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10456468	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947786	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1155347	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55856036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55902013	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56015508	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830644	chr6:39116530-39325980	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1022974	chr6:39120271-39277553	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv524717	chr6:39139764-39149140	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39139600-39157600	Weak transcription	Ovary	ovary
2	chr6:39140000-39148800	Weak transcription	Pancreas	Pancrea
3	chr6:39140200-39147800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:39145400-39154600	Weak transcription	Gastric	stomach
5	chr6:39145600-39152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:39145800-39152400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:39146000-39147400	Enhancers	Fetal Intestine Large	intestine
8	chr6:39146200-39147600	Enhancers	Fetal Intestine Small	intestine
9	chr6:39146200-39148600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:39146200-39152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:39146200-39160400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:39146400-39147400	Enhancers	Hela-S3	cervix
13	chr6:39146400-39148400	Enhancers	Stomach Mucosa	stomach
14	chr6:39146400-39153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:39146600-39151600	Weak transcription	Fetal Stomach	stomach
16	chr6:39146600-39157400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:39146800-39153200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:39147000-39147400	Enhancers	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
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