Variant report

Variant	rs9625387
Chromosome Location	chr22:28424993-28424994
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	chr22:28421365..28425106-chr22:28428246..28431609,4	MCF-7	breast:

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10154425	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10212007	0.84[EUR][1000 genomes]
rs10212036	0.86[EUR][1000 genomes]
rs10483140	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10483142	0.88[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483143	0.88[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs118840	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165651	0.93[EUR][1000 genomes]
rs12165797	0.93[EUR][1000 genomes]
rs12166023	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs12166077	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166158	0.95[EUR][1000 genomes]
rs12166164	0.86[EUR][1000 genomes]
rs12166256	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166389	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs12166719	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166740	0.89[CEU][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166912	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs12166938	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167320	0.93[EUR][1000 genomes]
rs12167735	0.89[CEU][hapmap]
rs12167829	0.93[EUR][1000 genomes]
rs12168054	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12168180	0.89[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168251	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168582	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs12169097	0.93[EUR][1000 genomes]
rs12169888	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169936	0.93[EUR][1000 genomes]
rs12170022	0.95[EUR][1000 genomes]
rs12170558	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170953	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171104	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138636	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138637	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138639	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138640	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138642	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs138646	1.00[YRI][hapmap]
rs138648	0.89[CEU][hapmap]
rs138651	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138653	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138654	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138655	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138656	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs138658	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138660	1.00[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138664	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138665	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138667	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138669	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138670	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs138671	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138672	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138676	0.89[CEU][hapmap]
rs138679	0.89[CEU][hapmap]
rs138680	0.89[CEU][hapmap]
rs16985763	0.93[EUR][1000 genomes]
rs16985967	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985976	0.86[EUR][1000 genomes]
rs16986037	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs16986077	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs16987005	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs17390800	0.93[EUR][1000 genomes]
rs17407024	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17483887	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484337	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745562	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375646	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579300	0.82[EUR][1000 genomes]
rs4036493	0.84[EUR][1000 genomes]
rs470098	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470101	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs470102	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470103	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470104	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856549	0.89[EUR][1000 genomes]
rs56233401	0.95[EUR][1000 genomes]
rs56393679	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57686964	0.95[EUR][1000 genomes]
rs58050941	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.95[EUR][1000 genomes]
rs7286519	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288331	0.93[EUR][1000 genomes]
rs7289984	0.93[EUR][1000 genomes]
rs7292562	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880355	0.91[EUR][1000 genomes]
rs73880374	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880375	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880376	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880381	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880382	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880383	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880384	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880385	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880387	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880393	0.93[EUR][1000 genomes]
rs73880395	0.86[EUR][1000 genomes]
rs73882704	0.82[EUR][1000 genomes]
rs73882705	0.82[EUR][1000 genomes]
rs761322	0.87[EUR][1000 genomes]
rs761323	0.95[EUR][1000 genomes]
rs8141163	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs8141173	0.93[EUR][1000 genomes]
rs9306451	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306452	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs9620752	0.93[EUR][1000 genomes]
rs9620753	0.93[EUR][1000 genomes]
rs9620755	0.90[EUR][1000 genomes]
rs9620757	0.93[EUR][1000 genomes]
rs9620762	1.00[CEU][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620764	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620766	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620767	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620768	0.89[CEU][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620769	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9620770	0.86[EUR][1000 genomes]
rs9620771	0.93[EUR][1000 genomes]
rs9625361	0.91[EUR][1000 genomes]
rs9625363	0.93[EUR][1000 genomes]
rs9625366	0.91[EUR][1000 genomes]
rs9625367	0.93[EUR][1000 genomes]
rs9625370	0.93[EUR][1000 genomes]
rs9625374	0.93[EUR][1000 genomes]
rs9625375	0.93[EUR][1000 genomes]
rs9625377	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625388	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625390	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625391	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625393	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625395	0.89[CEU][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625396	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625397	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625398	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625399	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625400	0.86[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625402	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625403	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625405	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs9625406	0.85[EUR][1000 genomes]
rs9625407	0.84[EUR][1000 genomes]
rs9625408	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9625409	0.93[EUR][1000 genomes]
rs9625410	0.91[EUR][1000 genomes]
rs9625413	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs9625415	0.93[EUR][1000 genomes]
rs9625416	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs9625417	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs9625418	0.93[EUR][1000 genomes]
rs9625421	0.89[EUR][1000 genomes]
rs9625425	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs9625427	0.84[EUR][1000 genomes]
rs9625430	0.86[EUR][1000 genomes]
rs9625433	0.80[CEU][hapmap]
rs9712839	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988893	0.82[EUR][1000 genomes]
rs9985213	0.93[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28399400-28425800	Weak transcription	Liver	Liver
2	chr22:28409000-28428000	Genic enhancers	Fetal Muscle Leg	muscle
3	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:28416000-28425000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:28416600-28431000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr22:28416800-28425200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:28417000-28425800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:28417200-28426000	Weak transcription	Brain Angular Gyrus	brain
9	chr22:28417600-28425400	Weak transcription	NHDF-Ad	bronchial
10	chr22:28417800-28426200	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr22:28418600-28429800	Strong transcription	Dnd41	blood
12	chr22:28419600-28426000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr22:28419800-28427400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr22:28420200-28426400	Enhancers	Psoas Muscle	Psoas
15	chr22:28420400-28425000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:28420400-28425600	Enhancers	Right Ventricle	heart
17	chr22:28421200-28425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr22:28421600-28425000	Weak transcription	HSMMtube	muscle
19	chr22:28421600-28427200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:28421800-28425800	Enhancers	Spleen	Spleen
21	chr22:28421800-28427000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:28422000-28425000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:28422000-28426400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr22:28422200-28425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:28422200-28426800	Enhancers	Primary hematopoietic stem cells	blood
26	chr22:28422400-28426800	Strong transcription	Primary T cells from cord blood	blood
27	chr22:28422600-28426000	Enhancers	Fetal Heart	heart
28	chr22:28422800-28426400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:28423000-28426400	Enhancers	Stomach Mucosa	stomach
30	chr22:28423000-28426800	Enhancers	Left Ventricle	heart
31	chr22:28423000-28427000	Genic enhancers	Fetal Stomach	stomach
32	chr22:28423000-28427400	Enhancers	Brain Cingulate Gyrus	brain
33	chr22:28423000-28427400	Genic enhancers	Fetal Brain Female	brain
34	chr22:28423000-28427600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:28423000-28427600	Enhancers	Esophagus	oesophagus
36	chr22:28423200-28425000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:28423200-28425800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr22:28423200-28426400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr22:28423200-28426800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:28423200-28426800	Enhancers	Right Atrium	heart
41	chr22:28423200-28427000	Enhancers	Brain Substantia Nigra	brain
42	chr22:28423200-28427200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr22:28423200-28427400	Enhancers	HUVEC	blood vessel
44	chr22:28423200-28427800	Enhancers	Colon Smooth Muscle	Colon
45	chr22:28423400-28425400	Enhancers	Brain Anterior Caudate	brain
46	chr22:28423400-28427600	Enhancers	Pancreas	Pancrea
47	chr22:28423400-28431800	Enhancers	Fetal Thymus	thymus
48	chr22:28423600-28426200	Genic enhancers	Lung	lung
49	chr22:28423600-28426200	Enhancers	Rectal Smooth Muscle	rectum
50	chr22:28423800-28426200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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