Variant report

Variant	rs10225552
Chromosome Location	chr7:124466668-124466669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10224463	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10226033	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10228201	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230610	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10233385	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10233596	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10240673	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10241173	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10244817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246424	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10249722	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10253613	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10264060	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10265763	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10268372	0.81[ASN][1000 genomes]
rs10271646	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10281582	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10464529	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12111865	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1541416	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541418	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17246404	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107939	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239532	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2286175	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2402751	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2402752	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28523990	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28622327	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28638102	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28728448	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28844358	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34986416	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36045816	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3925331	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4473974	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4532534	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55964341	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56313563	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56321835	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56356267	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56387611	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59294613	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59670428	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66492217	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66513837	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66526112	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66665074	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66922607	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67084428	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67146030	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67552763	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67585224	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67939974	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68007199	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68091803	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6943653	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6952721	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6971909	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs720613	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs722560	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs727505	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7777947	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790856	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791430	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7795943	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7801661	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7806680	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9655845	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs988699	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs989177	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124450800-124467000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:124452800-124475000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:124454400-124497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:124454600-124501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:124457600-124497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:124459000-124497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:124459200-124467600	Weak transcription	Esophagus	oesophagus
8	chr7:124459200-124469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:124459200-124497600	Weak transcription	Pancreas	Pancrea
10	chr7:124459200-124499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:124459400-124497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:124459400-124497600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:124460200-124483400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:124460400-124488600	Weak transcription	HSMMtube	muscle
15	chr7:124460600-124486200	Weak transcription	Brain Substantia Nigra	brain
16	chr7:124460800-124476200	Weak transcription	Fetal Brain Male	brain
17	chr7:124461000-124499200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:124461000-124499600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
20	chr7:124461600-124466800	Strong transcription	Liver	Liver
21	chr7:124461600-124467200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:124461600-124467800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:124461600-124467800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:124461600-124490600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:124461600-124493400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:124461600-124499800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:124462000-124466800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:124462000-124466800	Strong transcription	Adipose Nuclei	Adipose
29	chr7:124462000-124467200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:124462200-124466800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:124462200-124467800	Strong transcription	Dnd41	blood
32	chr7:124462200-124468000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr7:124462200-124474600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:124462200-124495000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:124462200-124498200	Weak transcription	Psoas Muscle	Psoas
36	chr7:124462200-124510200	Weak transcription	Brain Angular Gyrus	brain
37	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:124462400-124466800	Strong transcription	Primary T cells from cord blood	blood
39	chr7:124462400-124475000	Weak transcription	Thymus	Thymus
40	chr7:124462400-124488200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:124462400-124497400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:124462600-124479800	Weak transcription	HepG2	liver
43	chr7:124462600-124504000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:124463000-124467800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:124463000-124469400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:124463800-124467600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:124464000-124470600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:124464000-124506400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:124464000-124510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:124464200-124475000	Weak transcription	Left Ventricle	heart

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