Variant report

Variant	rs72789650
Chromosome Location	chr2:21511746-21511747
allele	A/G
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:
2	chr2:21510166..21511895-chr2:21519620..21521270,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10185261	0.83[EUR][1000 genomes]
rs10185535	0.83[EUR][1000 genomes]
rs10192339	0.83[EUR][1000 genomes]
rs10196906	0.83[EUR][1000 genomes]
rs10199484	0.83[EUR][1000 genomes]
rs10199765	0.83[EUR][1000 genomes]
rs12467767	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs21730	0.84[EUR][1000 genomes]
rs219505	0.83[EUR][1000 genomes]
rs219506	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs219507	0.83[EUR][1000 genomes]
rs219508	0.83[EUR][1000 genomes]
rs219509	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs219510	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs219531	0.83[EUR][1000 genomes]
rs219532	0.84[EUR][1000 genomes]
rs219533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs219534	0.84[EUR][1000 genomes]
rs219535	0.84[EUR][1000 genomes]
rs219536	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs219537	0.84[EUR][1000 genomes]
rs219538	0.84[EUR][1000 genomes]
rs219539	0.82[EUR][1000 genomes]
rs219540	0.84[EUR][1000 genomes]
rs219541	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs219546	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2217745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs380969	0.84[EUR][1000 genomes]
rs389795	0.84[EUR][1000 genomes]
rs390062	0.84[EUR][1000 genomes]
rs391070	0.84[EUR][1000 genomes]
rs399991	0.83[EUR][1000 genomes]
rs401843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs412558	0.84[EUR][1000 genomes]
rs418451	0.84[EUR][1000 genomes]
rs423277	0.84[EUR][1000 genomes]
rs425440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs439907	0.84[EUR][1000 genomes]
rs55815563	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55841071	0.84[EUR][1000 genomes]
rs56286635	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59020225	0.84[EUR][1000 genomes]
rs59920883	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61603728	0.83[EUR][1000 genomes]
rs6704721	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6708193	0.86[ASN][1000 genomes]
rs72789652	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789656	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7369047	0.83[EUR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21503200-21511800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:21505000-21511800	Weak transcription	Fetal Brain Male	brain
3	chr2:21510600-21511800	Enhancers	Rectal Smooth Muscle	rectum
4	chr2:21510600-21512200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:21510600-21512800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:21510600-21513200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:21510600-21513200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:21510600-21513400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:21510600-21513600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:21510600-21514600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:21510600-21514600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:21510800-21512200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:21510800-21512200	Enhancers	Colon Smooth Muscle	Colon
14	chr2:21510800-21512400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:21510800-21512400	Enhancers	K562	blood
16	chr2:21510800-21513200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:21510800-21513200	Enhancers	Brain Hippocampus Middle	brain
18	chr2:21511000-21512000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:21511000-21512200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:21511200-21511800	Enhancers	Fetal Heart	heart
21	chr2:21511200-21512800	Enhancers	Brain Anterior Caudate	brain
22	chr2:21511200-21513000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:21511200-21513400	Enhancers	Brain Germinal Matrix	brain
24	chr2:21511400-21511800	Enhancers	Fetal Intestine Large	intestine
25	chr2:21511400-21511800	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:21511400-21512200	Weak transcription	Fetal Kidney	kidney
27	chr2:21511400-21513000	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:21511400-21513200	Enhancers	Brain Angular Gyrus	brain
29	chr2:21511400-21527400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:21511600-21511800	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr2:21511600-21512000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:21511600-21512800	Weak transcription	Aorta	Aorta
33	chr2:21511600-21513000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:21511600-21513400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:21511600-21513400	Enhancers	Ovary	ovary

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