Variant report

Variant	rs12126992
Chromosome Location	chr1:155067608-155067609
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155066425..155068289-chr1:155084131..155086403,2	MCF-7	breast:
2	chr1:155066514..155068580-chr1:155068788..155070553,2	MCF-7	breast:
3	chr1:155066957..155067711-chr1:155138966..155139492,2	MCF-7	breast:
4	chr1:155067274..155067813-chr1:155140046..155140799,2	K562	blood:
5	chr1:155062448..155069217-chr1:155142816..155147773,12	MCF-7	breast:
6	chr1:155065702..155067995-chr1:155139570..155140962,16	MCF-7	breast:
7	chr1:155065499..155067791-chr1:155070241..155073223,2	MCF-7	breast:
8	chr1:155055416..155060440-chr1:155063419..155068026,8	K562	blood:
9	chr1:155064469..155067923-chr1:155161991..155164572,4	MCF-7	breast:
10	chr1:155066076..155068136-chr1:155139564..155141486,24	MCF-7	breast:
11	chr1:154931783..154934509-chr1:155065563..155068170,2	MCF-7	breast:
12	chr1:155066341..155068339-chr1:155131182..155134101,2	MCF-7	breast:
13	chr1:155049589..155073019-chr1:155085330..155115362,149	MCF-7	breast:
14	chr1:155061878..155067935-chr1:155138836..155144212,15	MCF-7	breast:
15	chr1:155066706..155067679-chr1:155149226..155149765,2	MCF-7	breast:
16	chr1:155066619..155069585-chr1:155195780..155198713,2	K562	blood:
17	chr1:155061833..155068204-chr1:155135824..155142287,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163463	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000271380	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000179085	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000202027	Chromatin interaction
ENSG00000163348	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000169241	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10908457	0.86[EUR][1000 genomes]
rs11264324	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11264325	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11264326	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12081692	0.88[EUR][1000 genomes]
rs13375955	0.88[EUR][1000 genomes]
rs1462854	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28670060	0.85[AMR][1000 genomes]
rs57157364	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58925616	0.94[EUR][1000 genomes]
rs66474937	0.86[EUR][1000 genomes]
rs67333363	0.90[EUR][1000 genomes]
rs72702273	0.90[EUR][1000 genomes]
rs72702285	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72702288	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72702293	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73001391	0.88[EUR][1000 genomes]
rs7517158	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7517162	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7548383	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155065800-155067800	Enhancers	Fetal Heart	heart
2	chr1:155067200-155067800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:155067200-155067800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:155067200-155067800	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:155067200-155074400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:155067200-155075000	Weak transcription	K562	blood
7	chr1:155067400-155074400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:155067600-155068000	Weak transcription	Liver	Liver
9	chr1:155067600-155068000	Weak transcription	HepG2	liver

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