Variant report

Variant	rs241721
Chromosome Location	chr22:33385241-33385242
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	chr22:33196563..33199846-chr22:33384873..33387711,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs133924	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133925	0.81[ASN][1000 genomes]
rs133926	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs133927	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs133929	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133931	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133934	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs133936	0.89[ASN][1000 genomes]
rs133937	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs133938	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs133941	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs133966	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs1365837	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs137552	0.84[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241707	0.88[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs241708	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs241709	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs241711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241714	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241717	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs241722	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs241725	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs241727	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs241729	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs241731	0.87[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs241732	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs241756	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241758	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs241759	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241760	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241764	0.86[CHB][hapmap]
rs241766	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs241767	0.89[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4518061	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs470004	0.86[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5754366	0.85[ASN][1000 genomes]
rs5754377	0.81[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap]
rs5998684	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs739143	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs9609676	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
2	chr22:33380800-33389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:33381000-33385400	Enhancers	NHEK	skin
4	chr22:33381400-33385400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:33381800-33386600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:33381800-33389200	Enhancers	HMEC	breast
7	chr22:33382000-33390200	Weak transcription	Right Atrium	heart
8	chr22:33382400-33387600	Weak transcription	NHDF-Ad	bronchial
9	chr22:33382400-33392400	Weak transcription	Lung	lung
10	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:33382600-33387600	Weak transcription	Brain Angular Gyrus	brain
12	chr22:33382600-33387800	Weak transcription	Brain Substantia Nigra	brain
13	chr22:33382600-33387800	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:33382600-33390400	Weak transcription	Right Ventricle	heart
15	chr22:33383200-33387600	Weak transcription	Fetal Heart	heart
16	chr22:33383400-33387400	Weak transcription	Adipose Nuclei	Adipose
17	chr22:33383400-33387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:33383600-33386800	Weak transcription	Left Ventricle	heart
19	chr22:33383600-33387400	Weak transcription	Fetal Brain Male	brain
20	chr22:33383600-33387600	Weak transcription	Brain Anterior Caudate	brain
21	chr22:33383600-33387600	Weak transcription	Brain Hippocampus Middle	brain
22	chr22:33383600-33387600	Weak transcription	Fetal Lung	lung
23	chr22:33383600-33387600	Weak transcription	HSMM	muscle
24	chr22:33383600-33387800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr22:33383600-33387800	Weak transcription	Fetal Intestine Small	intestine
26	chr22:33383600-33393200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:33383800-33387400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:33383800-33387400	Weak transcription	Brain Germinal Matrix	brain
29	chr22:33383800-33387400	Weak transcription	Fetal Stomach	stomach
30	chr22:33383800-33387600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:33383800-33387600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:33383800-33387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:33383800-33387600	Weak transcription	HSMMtube	muscle
34	chr22:33383800-33388200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:33383800-33389200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:33383800-33389200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr22:33383800-33390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:33383800-33390400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:33383800-33392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:33383800-33395800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr22:33384000-33387600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:33384400-33385800	Enhancers	Placenta	Placenta
44	chr22:33384400-33390800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:33384600-33385400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr22:33384600-33386200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:33384800-33385400	Enhancers	Esophagus	oesophagus
48	chr22:33384800-33386800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr22:33384800-33394600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr22:33385000-33387400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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