Variant report

Variant	rs13007394
Chromosome Location	chr2:21480075-21480076
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	chr2:21471299..21473190-chr2:21478215..21480683,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12472945	0.82[EUR][1000 genomes]
rs1397400	0.82[EUR][1000 genomes]
rs35437800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71437406	0.89[AMR][1000 genomes]
rs7584773	0.82[EUR][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:28 , 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	chr2:21475200-21481000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:21475200-21484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:21475800-21481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:21476000-21488000	Enhancers	Brain Anterior Caudate	brain
8	chr2:21476400-21482000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:21477800-21480200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:21478000-21480200	Enhancers	Adipose Nuclei	Adipose
11	chr2:21478200-21481000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:21478600-21481000	Enhancers	HMEC	breast
13	chr2:21479000-21490400	Weak transcription	Spleen	Spleen
14	chr2:21479200-21480600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:21479200-21481000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:21479400-21480600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:21479400-21481000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:21479400-21482800	Weak transcription	K562	blood
19	chr2:21479400-21494800	Enhancers	Brain Substantia Nigra	brain
20	chr2:21479600-21480200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:21479600-21480600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:21479600-21481600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:21479600-21489200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:21479800-21480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:21479800-21480800	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:21479800-21481000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:21479800-21484600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:21480000-21482600	Weak transcription	Brain Germinal Matrix	brain

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