Variant report

Variant	rs73917221
Chromosome Location	chr2:11620917-11620918
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11619254..11621182-chr20:52208800..52211669,2	MCF-7	breast:
2	chr2:11619498..11621530-chr8:102501858..102504474,2	MCF-7	breast:
3	chr2:11620780..11623645-chr2:11748441..11751021,2	MCF-7	breast:
4	chr2:11583321..11585484-chr2:11620633..11622396,2	MCF-7	breast:
5	chr2:11619147..11621466-chr2:11720727..11723071,2	K562	blood:
6	chr2:11620802..11622693-chr2:11801885..11804962,3	MCF-7	breast:
7	chr2:11620752..11623461-chr7:108208476..108211188,2	MCF-7	breast:
8	chr2:11295276..11298034-chr2:11619894..11623397,3	MCF-7	breast:
9	chr2:11620284..11621192-chr2:11722895..11723465,2	K562	blood:
10	chr2:11620746..11622950-chr6:35997193..35998902,2	MCF-7	breast:
11	chr2:11619432..11626810-chr2:11815160..11825829,15	MCF-7	breast:
12	chr2:11620854..11623036-chr5:41911701..41913647,2	MCF-7	breast:
13	chr2:11259705..11263284-chr2:11619132..11621032,3	MCF-7	breast:
14	chr2:11619575..11623223-chr2:11785570..11788850,5	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000135241	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000228496	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000177683	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6432202	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729306	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11607000-11621200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11607200-11622400	Weak transcription	Spleen	Spleen
3	chr2:11618200-11622400	Enhancers	HepG2	liver
4	chr2:11618400-11621000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:11618400-11621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:11618400-11622400	Weak transcription	Psoas Muscle	Psoas
7	chr2:11618600-11621800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:11618600-11622200	Weak transcription	Brain Anterior Caudate	brain
9	chr2:11619200-11622400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:11619600-11621200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:11620400-11621400	Enhancers	Fetal Stomach	stomach
12	chr2:11620400-11622800	Enhancers	Fetal Lung	lung
13	chr2:11620600-11621000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:11620600-11621400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:11620800-11621400	Active TSS	Ovary	ovary
16	chr2:11620800-11621800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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