Variant report

Variant	rs17127949
Chromosome Location	chr1:86064691-86064692
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:86064687-86064880	HepG2	liver:	n/a	n/a
2	CTCF	chr1:86064600-86064750	RPTEC	kidney:	n/a	n/a
3	CTCF	chr1:86064640-86064790	RPTEC	kidney:	n/a	n/a
4	CTCF	chr1:86064680-86064830	SAEC	small airway:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:86043937..86050216-chr1:86058297..86066765,12	K562	blood:
2	chr1:86046008..86048463-chr1:86063364..86065472,5	MCF-7	breast:
3	chr1:86045233..86051336-chr1:86057804..86069814,19	K562	blood:
4	chr1:86046314..86048061-chr1:86063099..86064769,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230285	TF binding region
ENSG00000142871	Chromatin interaction
ENSG00000272691	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12756618	0.84[EUR][1000 genomes]
rs17127887	0.83[ASN][1000 genomes]
rs17127897	0.83[ASN][1000 genomes]
rs17127904	0.91[ASN][1000 genomes]
rs17127916	0.91[ASN][1000 genomes]
rs17127933	0.91[ASN][1000 genomes]
rs17127978	0.83[ASN][1000 genomes]
rs17127983	0.83[ASN][1000 genomes]
rs17127986	0.83[ASN][1000 genomes]
rs34201212	1.00[EUR][1000 genomes]
rs35003186	1.00[EUR][1000 genomes]
rs35587534	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35754509	1.00[EUR][1000 genomes]
rs35787923	1.00[EUR][1000 genomes]
rs36003479	1.00[EUR][1000 genomes]
rs6672587	0.83[ASN][1000 genomes]
rs6684769	1.00[EUR][1000 genomes]
rs6699699	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71502515	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512713	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517469	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518036	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519002	0.91[ASN][1000 genomes]
rs7527678	0.85[AFR][1000 genomes]
rs7550753	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9324150	0.91[ASN][1000 genomes]
rs9658588	0.91[ASN][1000 genomes]
rs9658592	0.91[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
3	chr1:86053800-86071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:86055000-86064800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:86062600-86065200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:86062800-86065000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:86063000-86064800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:86063000-86069400	Weak transcription	Fetal Lung	lung
9	chr1:86063600-86068000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:86063800-86064800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:86063800-86065200	Enhancers	A549	lung
12	chr1:86063800-86065800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:86064000-86064800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:86064000-86072600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:86064400-86065200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:86064400-86065200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:86064600-86064800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:86064600-86065000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:86064600-86065000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr1:86064600-86065200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:86064600-86065200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:86064600-86065600	Enhancers	Fetal Brain Male	brain
23	chr1:86064600-86065600	Enhancers	Fetal Stomach	stomach

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