Variant report

Variant	rs12166389
Chromosome Location	chr22:28323693-28323694
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	chr22:28313170..28318455-chr22:28322115..28328804,10	MCF-7	breast:
2	chr22:28314240..28318483-chr22:28320569..28325658,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264073	Chromatin interaction
ENSG00000180957	Chromatin interaction
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10154425	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10483140	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483142	0.82[EUR][1000 genomes]
rs10483143	0.82[EUR][1000 genomes]
rs118840	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12165651	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165797	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166023	0.86[EUR][1000 genomes]
rs12166077	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs12166158	0.88[EUR][1000 genomes]
rs12166256	0.88[EUR][1000 genomes]
rs12166740	0.91[EUR][1000 genomes]
rs12166912	0.88[EUR][1000 genomes]
rs12166938	0.82[EUR][1000 genomes]
rs12167320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167829	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168054	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs12168180	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12168251	0.82[EUR][1000 genomes]
rs12168582	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169097	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12169888	0.93[EUR][1000 genomes]
rs12169936	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170022	0.88[EUR][1000 genomes]
rs12170558	0.81[EUR][1000 genomes]
rs12170953	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs12171104	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138636	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs138637	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs138639	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs138640	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs138642	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs138646	0.81[CEU][hapmap]
rs138651	0.86[CEU][hapmap];0.93[EUR][1000 genomes]
rs138653	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs138654	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138655	0.93[EUR][1000 genomes]
rs138656	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138658	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138660	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138664	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138665	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138667	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138669	0.86[EUR][1000 genomes]
rs138670	0.88[EUR][1000 genomes]
rs138671	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138672	0.93[EUR][1000 genomes]
rs16985691	0.84[YRI][hapmap]
rs16985763	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986037	0.88[EUR][1000 genomes]
rs16987005	0.88[EUR][1000 genomes]
rs17390800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407024	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17483887	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs17484337	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs2745562	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28375646	0.93[EUR][1000 genomes]
rs470098	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs470101	0.90[CEU][hapmap]
rs470102	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs470103	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs470104	0.93[EUR][1000 genomes]
rs55856549	0.83[EUR][1000 genomes]
rs56233401	0.88[EUR][1000 genomes]
rs57686964	0.88[EUR][1000 genomes]
rs58050941	0.88[EUR][1000 genomes]
rs58823697	0.88[EUR][1000 genomes]
rs7286519	0.93[EUR][1000 genomes]
rs7288331	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289984	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292562	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73880355	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73880374	0.93[EUR][1000 genomes]
rs73880375	0.93[EUR][1000 genomes]
rs73880376	0.93[EUR][1000 genomes]
rs73880381	0.93[EUR][1000 genomes]
rs73880382	0.86[EUR][1000 genomes]
rs73880383	0.82[EUR][1000 genomes]
rs73880384	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73880385	0.81[EUR][1000 genomes]
rs73880387	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880393	0.86[EUR][1000 genomes]
rs761322	0.81[EUR][1000 genomes]
rs761323	0.88[EUR][1000 genomes]
rs8141163	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141173	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142920	0.84[YRI][hapmap]
rs9306451	0.81[EUR][1000 genomes]
rs9620752	0.81[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620753	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620755	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620762	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9620764	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9620766	0.81[EUR][1000 genomes]
rs9620767	0.81[EUR][1000 genomes]
rs9620768	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9620769	0.86[EUR][1000 genomes]
rs9620771	0.86[EUR][1000 genomes]
rs9625352	0.84[YRI][hapmap]
rs9625361	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625363	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625366	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625367	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625370	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625374	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625375	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625377	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625387	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9625388	0.93[EUR][1000 genomes]
rs9625390	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9625391	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs9625393	0.82[EUR][1000 genomes]
rs9625395	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625396	0.81[EUR][1000 genomes]
rs9625397	0.81[EUR][1000 genomes]
rs9625398	0.81[EUR][1000 genomes]
rs9625399	0.81[EUR][1000 genomes]
rs9625400	0.81[EUR][1000 genomes]
rs9625402	0.81[EUR][1000 genomes]
rs9625408	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs9625409	0.86[EUR][1000 genomes]
rs9625410	0.84[EUR][1000 genomes]
rs9625413	0.88[EUR][1000 genomes]
rs9625415	0.86[EUR][1000 genomes]
rs9625416	0.88[EUR][1000 genomes]
rs9625417	0.88[EUR][1000 genomes]
rs9625418	0.86[EUR][1000 genomes]
rs9625421	0.83[EUR][1000 genomes]
rs9712839	0.81[AMR][1000 genomes]
rs9985213	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316200-28326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:28316200-28328400	Weak transcription	Aorta	Aorta
3	chr22:28316200-28337400	Weak transcription	Ovary	ovary
4	chr22:28316400-28326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:28316400-28326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:28316400-28326400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:28316400-28326400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr22:28316400-28326600	Weak transcription	Right Ventricle	heart
9	chr22:28316400-28327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:28316400-28328200	Weak transcription	Left Ventricle	heart
11	chr22:28316400-28329000	Weak transcription	Pancreas	Pancrea
12	chr22:28316400-28329000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr22:28316400-28335000	Weak transcription	Colonic Mucosa	Colon
14	chr22:28316400-28336800	Weak transcription	Fetal Muscle Leg	muscle
15	chr22:28316400-28342600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:28316400-28358600	Weak transcription	Placenta	Placenta
17	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
20	chr22:28316600-28325400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:28316600-28328600	Weak transcription	Stomach Mucosa	stomach
22	chr22:28316600-28348400	Weak transcription	Brain Substantia Nigra	brain
23	chr22:28316800-28325400	Weak transcription	Psoas Muscle	Psoas
24	chr22:28316800-28325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:28316800-28326600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr22:28316800-28329000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr22:28316800-28333800	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:28316800-28336600	Weak transcription	Fetal Intestine Large	intestine
29	chr22:28316800-28340400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr22:28317000-28323800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr22:28317000-28325400	Weak transcription	HMEC	breast
32	chr22:28317000-28325800	Weak transcription	NHEK	skin
33	chr22:28317000-28326000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:28317000-28327400	Weak transcription	Adipose Nuclei	Adipose
35	chr22:28317000-28338800	Weak transcription	Fetal Intestine Small	intestine
36	chr22:28317000-28340800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:28317000-28348200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr22:28317200-28336600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:28317400-28325000	Weak transcription	HSMM	muscle
40	chr22:28317400-28326000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:28317400-28326400	Weak transcription	NHDF-Ad	bronchial
42	chr22:28317600-28329000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr22:28317600-28340800	Weak transcription	Thymus	Thymus
44	chr22:28317800-28342600	Weak transcription	Small Intestine	intestine
45	chr22:28317800-28345200	Weak transcription	HepG2	liver
46	chr22:28318600-28325600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr22:28318600-28332400	Weak transcription	K562	blood
48	chr22:28318800-28325200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr22:28319400-28334000	Weak transcription	Fetal Stomach	stomach

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