Variant report

Variant	rs9625361
Chromosome Location	chr22:28317118-28317119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28314687..28317374-chr22:28386537..28389209,3	MCF-7	breast:
2	chr22:28317023..28318646-chr22:28319576..28321605,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10154425	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10212036	0.81[EUR][1000 genomes]
rs10483140	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483142	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10483143	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs118840	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12165651	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165797	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166023	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12166077	0.91[EUR][1000 genomes]
rs12166158	0.86[EUR][1000 genomes]
rs12166256	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12166389	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166719	0.80[AMR][1000 genomes]
rs12166740	0.89[EUR][1000 genomes]
rs12166912	0.86[EUR][1000 genomes]
rs12166938	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12167320	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167829	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168054	0.88[EUR][1000 genomes]
rs12168180	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12168251	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12168582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169097	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12169888	0.91[EUR][1000 genomes]
rs12169936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170022	0.86[EUR][1000 genomes]
rs12170558	0.80[AMR][1000 genomes]
rs12170953	0.91[EUR][1000 genomes]
rs12171104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138636	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs138637	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs138639	0.96[EUR][1000 genomes]
rs138640	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs138642	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs138651	0.91[EUR][1000 genomes]
rs138653	0.86[EUR][1000 genomes]
rs138654	0.91[EUR][1000 genomes]
rs138655	0.91[EUR][1000 genomes]
rs138656	0.91[EUR][1000 genomes]
rs138658	0.91[EUR][1000 genomes]
rs138660	0.91[EUR][1000 genomes]
rs138664	0.91[EUR][1000 genomes]
rs138665	0.91[EUR][1000 genomes]
rs138667	0.91[EUR][1000 genomes]
rs138669	0.84[EUR][1000 genomes]
rs138670	0.86[EUR][1000 genomes]
rs138671	0.91[EUR][1000 genomes]
rs138672	0.91[EUR][1000 genomes]
rs16985763	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985967	0.80[AMR][1000 genomes]
rs16986037	0.86[EUR][1000 genomes]
rs16986077	0.81[EUR][1000 genomes]
rs16987005	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17390800	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407024	0.82[EUR][1000 genomes]
rs17483887	0.91[EUR][1000 genomes]
rs17484337	0.91[EUR][1000 genomes]
rs2745562	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28375646	0.91[EUR][1000 genomes]
rs470098	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs470102	0.91[EUR][1000 genomes]
rs470103	0.91[EUR][1000 genomes]
rs470104	0.91[EUR][1000 genomes]
rs55856549	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56233401	0.86[EUR][1000 genomes]
rs56393679	0.80[AMR][1000 genomes]
rs57686964	0.86[EUR][1000 genomes]
rs58050941	0.86[EUR][1000 genomes]
rs58823697	0.86[EUR][1000 genomes]
rs7286519	0.91[EUR][1000 genomes]
rs7288331	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289984	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292562	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73880355	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880374	0.91[EUR][1000 genomes]
rs73880375	0.91[EUR][1000 genomes]
rs73880376	0.91[EUR][1000 genomes]
rs73880381	0.91[EUR][1000 genomes]
rs73880382	0.84[EUR][1000 genomes]
rs73880383	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73880384	0.81[EUR][1000 genomes]
rs73880387	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73880393	0.84[EUR][1000 genomes]
rs761323	0.86[EUR][1000 genomes]
rs8141163	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141173	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620752	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620755	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9620757	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620762	0.91[EUR][1000 genomes]
rs9620764	0.91[EUR][1000 genomes]
rs9620766	0.80[AMR][1000 genomes]
rs9620767	0.80[AMR][1000 genomes]
rs9620768	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9620769	0.84[EUR][1000 genomes]
rs9620771	0.84[EUR][1000 genomes]
rs9625350	0.84[AFR][1000 genomes]
rs9625363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625366	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625367	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625370	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625374	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625375	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625377	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625387	0.91[EUR][1000 genomes]
rs9625388	0.91[EUR][1000 genomes]
rs9625390	0.91[EUR][1000 genomes]
rs9625391	0.89[EUR][1000 genomes]
rs9625393	0.81[EUR][1000 genomes]
rs9625395	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625403	0.80[AMR][1000 genomes]
rs9625408	0.86[EUR][1000 genomes]
rs9625409	0.84[EUR][1000 genomes]
rs9625410	0.83[EUR][1000 genomes]
rs9625413	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625415	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9625416	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625417	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625418	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9625421	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9985213	0.97[AMR][1000 genomes];0.98[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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28313000-28317200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:28314200-28317200	Active TSS	K562	blood
3	chr22:28315600-28317200	Flanking Active TSS	HUVEC	blood vessel
4	chr22:28316000-28317800	Enhancers	Small Intestine	intestine
5	chr22:28316200-28326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28316200-28328400	Weak transcription	Aorta	Aorta
7	chr22:28316200-28337400	Weak transcription	Ovary	ovary
8	chr22:28316400-28317200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:28316400-28317200	Enhancers	Fetal Lung	lung
10	chr22:28316400-28317400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr22:28316400-28317400	Enhancers	Fetal Stomach	stomach
12	chr22:28316400-28317600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr22:28316400-28317600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:28316400-28317600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr22:28316400-28317800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr22:28316400-28317800	Enhancers	Fetal Heart	heart
17	chr22:28316400-28318000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:28316400-28319400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:28316400-28320400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:28316400-28321400	Weak transcription	Spleen	Spleen
21	chr22:28316400-28322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:28316400-28322400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:28316400-28322600	Weak transcription	HSMMtube	muscle
24	chr22:28316400-28326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:28316400-28326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:28316400-28326400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:28316400-28326400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:28316400-28326600	Weak transcription	Right Ventricle	heart
29	chr22:28316400-28327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:28316400-28328200	Weak transcription	Left Ventricle	heart
31	chr22:28316400-28329000	Weak transcription	Pancreas	Pancrea
32	chr22:28316400-28329000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr22:28316400-28335000	Weak transcription	Colonic Mucosa	Colon
34	chr22:28316400-28336800	Weak transcription	Fetal Muscle Leg	muscle
35	chr22:28316400-28342600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:28316400-28358600	Weak transcription	Placenta	Placenta
37	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
40	chr22:28316600-28317200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:28316600-28317200	Enhancers	Colon Smooth Muscle	Colon
42	chr22:28316600-28317200	Flanking Active TSS	NHLF	lung
43	chr22:28316600-28317600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr22:28316600-28317600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr22:28316600-28317600	Enhancers	Thymus	Thymus
46	chr22:28316600-28318000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr22:28316600-28319200	Weak transcription	Fetal Thymus	thymus
48	chr22:28316600-28320000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr22:28316600-28323200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr22:28316600-28325400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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