Variant report

Variant	rs133926
Chromosome Location	chr22:33392076-33392077
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33387629..33389228-chr22:33390616..33392277,2	MCF-7	breast:
2	chr22:33385978..33389779-chr22:33390514..33394605,9	MCF-7	breast:
3	chr22:33196518..33199215-chr22:33391329..33394427,4	MCF-7	breast:
4	22:32920308-32927723..22:33389304-33403028	K562	blood:
5	chr22:33196410..33199341-chr22:33390721..33395867,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs114509	0.83[CEU][hapmap]
rs133924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs133925	0.84[ASN][1000 genomes]
rs133927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133929	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133934	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs133936	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs133937	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs133938	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs133941	0.87[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs133944	0.83[CEU][hapmap]
rs133945	0.82[CEU][hapmap]
rs133946	0.82[CEU][hapmap]
rs133949	0.82[CEU][hapmap]
rs133964	0.91[AFR][1000 genomes]
rs133966	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1365837	0.87[ASN][1000 genomes]
rs137552	0.92[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs241707	0.86[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs241708	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs241709	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs241711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs241712	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs241714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs241715	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs241717	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs241721	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]
rs241722	0.90[ASN][1000 genomes]
rs241725	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs241727	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs241729	0.86[CHB][hapmap]
rs241731	0.87[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs241732	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs241756	0.85[ASN][1000 genomes]
rs241758	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs241759	0.85[ASN][1000 genomes]
rs241760	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs241764	0.86[CHB][hapmap]
rs241766	0.90[ASN][1000 genomes]
rs241767	0.93[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs4518061	0.84[ASN][1000 genomes]
rs470004	0.93[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs470006	0.82[CEU][hapmap]
rs5754366	0.80[ASN][1000 genomes]
rs5754377	0.92[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs5998684	0.89[ASN][1000 genomes]
rs739143	0.88[CEU][hapmap];0.84[CHB][hapmap]
rs78506	0.81[CEU][hapmap]
rs9609676	0.94[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33382400-33392400	Weak transcription	Lung	lung
2	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr22:33383600-33393200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:33383800-33392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:33383800-33395800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:33384800-33394600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr22:33386200-33397000	Enhancers	Placenta	Placenta
9	chr22:33386600-33393600	Enhancers	Fetal Muscle Leg	muscle
10	chr22:33388000-33392800	Weak transcription	Brain Hippocampus Middle	brain
11	chr22:33388200-33396600	Weak transcription	Brain Substantia Nigra	brain
12	chr22:33388200-33396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
14	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr22:33389600-33396600	Weak transcription	Brain Anterior Caudate	brain
16	chr22:33389800-33393600	Enhancers	Hela-S3	cervix
17	chr22:33390800-33396200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:33390800-33399800	Weak transcription	Fetal Brain Female	brain
19	chr22:33391000-33393400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr22:33391000-33395800	Weak transcription	Brain Germinal Matrix	brain
21	chr22:33391000-33396400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:33391200-33392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:33391200-33392200	Weak transcription	Adipose Nuclei	Adipose
24	chr22:33391200-33392200	Weak transcription	Right Atrium	heart
25	chr22:33391200-33392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:33391200-33392400	Weak transcription	Esophagus	oesophagus
27	chr22:33391200-33392800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr22:33391200-33392800	Weak transcription	Left Ventricle	heart
29	chr22:33391200-33395400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr22:33391200-33395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:33391200-33395800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr22:33391200-33396400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:33391200-33396400	Weak transcription	Fetal Brain Male	brain
34	chr22:33391400-33392400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:33391400-33392400	Weak transcription	Fetal Intestine Small	intestine
36	chr22:33391400-33395400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr22:33391600-33392400	Weak transcription	Fetal Stomach	stomach
38	chr22:33391600-33392600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr22:33391600-33392800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:33391600-33395000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:33391600-33395200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:33391600-33396400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:33391600-33396400	Weak transcription	Fetal Lung	lung
44	chr22:33391600-33399800	Weak transcription	HepG2	liver
45	chr22:33391800-33392400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:33391800-33392400	Weak transcription	Fetal Heart	heart
47	chr22:33391800-33395800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:33391800-33398400	Enhancers	HMEC	breast
49	chr22:33392000-33392400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:33392000-33392600	Enhancers	NHEK	skin

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