Variant report

Variant	rs72898452
Chromosome Location	chr2:21478702-21478703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21476934..21479840-chr2:21484756..21486875,2	MCF-7	breast:
2	chr2:21471299..21473190-chr2:21478215..21480683,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10514650	1.00[ASN][1000 genomes]
rs12713252	1.00[ASN][1000 genomes]
rs12993526	1.00[ASN][1000 genomes]
rs12995036	1.00[ASN][1000 genomes]
rs17395484	1.00[ASN][1000 genomes]
rs182584	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312032	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312034	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312035	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312037	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312038	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312039	1.00[ASN][1000 genomes]
rs312040	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312044	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35127135	1.00[ASN][1000 genomes]
rs4665631	0.84[EUR][1000 genomes]
rs72898450	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898454	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898467	1.00[ASN][1000 genomes]
rs7601166	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519215	chr2:21473751-21502727	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
2	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21462200-21480800	Weak transcription	Aorta	Aorta
2	chr2:21473200-21488800	Enhancers	Brain Hippocampus Middle	brain
3	chr2:21473600-21487400	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:21474600-21478800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:21475000-21478800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:21475000-21479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:21475200-21481000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:21475200-21484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:21475800-21478800	Enhancers	Brain Substantia Nigra	brain
10	chr2:21475800-21481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:21476000-21479200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:21476000-21479800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:21476000-21488000	Enhancers	Brain Anterior Caudate	brain
14	chr2:21476200-21479800	Enhancers	Brain Angular Gyrus	brain
15	chr2:21476400-21479600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:21476400-21482000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:21477600-21479400	Enhancers	K562	blood
18	chr2:21477800-21478800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:21477800-21480200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:21478000-21478800	Enhancers	GM12878-XiMat	blood
21	chr2:21478000-21479000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:21478000-21479000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:21478000-21479200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:21478000-21480000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:21478000-21480200	Enhancers	Adipose Nuclei	Adipose
26	chr2:21478200-21481000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:21478400-21478800	Weak transcription	Spleen	Spleen
28	chr2:21478400-21479800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:21478600-21479000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr2:21478600-21479600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:21478600-21479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:21478600-21480000	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:21478600-21481000	Enhancers	HMEC	breast

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