Variant report

Variant	rs59020225
Chromosome Location	chr2:21512214-21512215
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	chr2:21503800..21505769-chr2:21511701..21513411,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10185261	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10185535	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10192339	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10196906	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10199484	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10199765	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12467767	0.83[EUR][1000 genomes]
rs21730	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs219505	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs219506	0.83[EUR][1000 genomes]
rs219507	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs219508	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs219509	0.83[EUR][1000 genomes]
rs219510	0.83[EUR][1000 genomes]
rs219531	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs219532	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs219533	0.84[EUR][1000 genomes]
rs219534	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs219535	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs219536	0.85[EUR][1000 genomes]
rs219537	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs219538	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs219539	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs219540	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs219541	0.84[EUR][1000 genomes]
rs219546	0.82[EUR][1000 genomes]
rs2217745	0.84[EUR][1000 genomes]
rs380969	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389795	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs390062	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs391070	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs399991	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs401843	0.84[EUR][1000 genomes]
rs412558	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs418451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs423277	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs425440	0.84[EUR][1000 genomes]
rs439907	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55841071	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56286635	0.84[EUR][1000 genomes]
rs59014890	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59920883	0.82[EUR][1000 genomes]
rs61603728	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6708193	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72789650	0.84[EUR][1000 genomes]
rs72789652	0.81[EUR][1000 genomes]
rs72789656	0.84[EUR][1000 genomes]
rs7369047	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	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
2	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	chr2:21510600-21512800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:21510600-21513200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:21510600-21513200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:21510600-21513400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:21510600-21513600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:21510600-21514600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:21510600-21514600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:21510800-21512400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:21510800-21512400	Enhancers	K562	blood
10	chr2:21510800-21513200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:21510800-21513200	Enhancers	Brain Hippocampus Middle	brain
12	chr2:21511200-21512800	Enhancers	Brain Anterior Caudate	brain
13	chr2:21511200-21513000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:21511200-21513400	Enhancers	Brain Germinal Matrix	brain
15	chr2:21511400-21513000	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:21511400-21513200	Enhancers	Brain Angular Gyrus	brain
17	chr2:21511400-21527400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:21511600-21512800	Weak transcription	Aorta	Aorta
19	chr2:21511600-21513000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:21511600-21513400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:21511600-21513400	Enhancers	Ovary	ovary
22	chr2:21511800-21512800	Enhancers	Fetal Brain Male	brain
23	chr2:21511800-21512800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:21511800-21513400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:21511800-21513600	Enhancers	Brain Substantia Nigra	brain
26	chr2:21512000-21513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:21512000-21513400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:21512200-21512400	Enhancers	Fetal Kidney	kidney
29	chr2:21512200-21512600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:21512200-21512600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:21512200-21512600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:21512200-21513000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:21512200-21513400	Enhancers	Fetal Brain Female	brain

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