Variant report

Variant	rs57027900
Chromosome Location	chr11:72874844-72874845
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:72865432..72868225-chr11:72873076..72874981,2	K562	blood:
2	chr11:72869685..72871497-chr11:72873517..72875859,2	K562	blood:
3	chr11:72871963..72873973-chr11:72874457..72877070,2	MCF-7	breast:
4	chr11:72865367..72868837-chr11:72873486..72875825,3	MCF-7	breast:
5	chr11:72865579..72869527-chr11:72872570..72875196,3	MCF-7	breast:
6	chr11:72870371..72871885-chr11:72874212..72876545,2	MCF-7	breast:
7	chr11:72851886..72854776-chr11:72874193..72875824,2	K562	blood:
8	chr11:72873535..72875164-chr11:72892310..72895031,2	K562	blood:
9	chr11:72874691..72878123-chr11:72880193..72884667,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12416806	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12416851	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417247	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418733	0.81[ASN][1000 genomes]
rs12420406	0.85[ASN][1000 genomes]
rs12421033	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17131839	0.85[ASN][1000 genomes]
rs34406022	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4578418	0.81[ASN][1000 genomes]
rs55797855	0.92[AFR][1000 genomes]
rs55932161	0.89[AFR][1000 genomes]
rs55956429	0.92[AFR][1000 genomes]
rs56332894	0.86[AFR][1000 genomes]
rs59340990	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7940725	0.90[AFR][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	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv386	chr11:72849097-72893807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72870200-72875000	Weak transcription	Adipose Nuclei	Adipose
2	chr11:72870200-72875200	Weak transcription	Liver	Liver
3	chr11:72870400-72878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:72870800-72880200	Enhancers	HepG2	liver
5	chr11:72871000-72876000	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:72871200-72879800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:72871600-72880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:72871800-72875000	Weak transcription	Fetal Intestine Small	intestine
9	chr11:72871800-72875800	Weak transcription	Fetal Heart	heart
10	chr11:72871800-72880000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:72873000-72875000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:72873200-72875000	Enhancers	Right Ventricle	heart
13	chr11:72873200-72876400	Enhancers	Placenta	Placenta
14	chr11:72873200-72876600	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:72873400-72876400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:72873400-72876400	Enhancers	Left Ventricle	heart
17	chr11:72873800-72876400	Enhancers	Fetal Intestine Large	intestine
18	chr11:72873800-72878200	Weak transcription	HUVEC	blood vessel
19	chr11:72873800-72880000	Weak transcription	Lung	lung
20	chr11:72874200-72876000	Weak transcription	Primary B cells from cord blood	blood
21	chr11:72874200-72876000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:72874200-72878800	Weak transcription	Spleen	Spleen
23	chr11:72874600-72875200	Enhancers	HSMMtube	muscle
24	chr11:72874600-72875400	Enhancers	Ovary	ovary
25	chr11:72874600-72875600	Weak transcription	K562	blood
26	chr11:72874600-72876000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:72874800-72875200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:72874800-72875800	Weak transcription	GM12878-XiMat	blood
29	chr11:72874800-72876200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:72874800-72876200	Enhancers	Right Atrium	heart

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