Variant report

Variant	rs7631251
Chromosome Location	chr3:70120546-70120547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12488275	1.00[EUR][1000 genomes]
rs13318952	1.00[EUR][1000 genomes]
rs13319628	1.00[EUR][1000 genomes]
rs13321870	1.00[EUR][1000 genomes]
rs13325308	1.00[EUR][1000 genomes]
rs13325643	1.00[EUR][1000 genomes]
rs28545381	1.00[EUR][1000 genomes]
rs28548134	1.00[EUR][1000 genomes]
rs28583802	1.00[EUR][1000 genomes]
rs55906238	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56086555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57240203	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59761935	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60327342	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60618858	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61545912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61678936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6770281	1.00[EUR][1000 genomes]
rs6797799	1.00[EUR][1000 genomes]
rs73836017	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836023	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836025	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73836026	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836027	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836029	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836030	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836031	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836034	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836035	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836039	1.00[AMR][1000 genomes]
rs73836041	1.00[AMR][1000 genomes]
rs73836042	1.00[AMR][1000 genomes]
rs73836043	1.00[AMR][1000 genomes]
rs73836046	1.00[AMR][1000 genomes]
rs73836049	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836053	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836054	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73836056	1.00[AMR][1000 genomes]
rs73836057	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836058	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73836059	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73836089	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73836091	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836094	1.00[AMR][1000 genomes]
rs73836095	1.00[AMR][1000 genomes]
rs73838685	1.00[AMR][1000 genomes]
rs7620183	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7621139	1.00[EUR][1000 genomes]
rs7626775	1.00[EUR][1000 genomes]
rs7633610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814696	1.00[AMR][1000 genomes]
rs9824748	1.00[EUR][1000 genomes]
rs9830619	1.00[EUR][1000 genomes]
rs9836115	1.00[EUR][1000 genomes]
rs9836196	1.00[EUR][1000 genomes]
rs9836245	1.00[EUR][1000 genomes]
rs9837652	1.00[EUR][1000 genomes]
rs9837698	1.00[EUR][1000 genomes]
rs9839441	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9840427	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9843425	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9874322	1.00[EUR][1000 genomes]
rs9879292	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	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70112600-70120600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:70113800-70123800	Weak transcription	Gastric	stomach
3	chr3:70117200-70121200	Weak transcription	Psoas Muscle	Psoas
4	chr3:70118200-70120800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:70118600-70120600	Weak transcription	Fetal Heart	heart
6	chr3:70119000-70120800	Weak transcription	Aorta	Aorta
7	chr3:70119800-70120600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:70120000-70120600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:70120000-70120600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:70120200-70120600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:70120200-70120800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:70120200-70121800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr3:70120200-70121800	Active TSS	Brain Angular Gyrus	brain
14	chr3:70120400-70120600	Active TSS	Brain Anterior Caudate	brain
15	chr3:70120400-70120600	Enhancers	Brain Substantia Nigra	brain
16	chr3:70120400-70120600	Bivalent Enhancer	Fetal Brain Female	brain
17	chr3:70120400-70121000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:70120400-70121200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr3:70120400-70121200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:70120400-70121200	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr3:70120400-70121600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:70120400-70121600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr3:70120400-70121600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:70120400-70121600	Active TSS	Brain Cingulate Gyrus	brain
25	chr3:70120400-70121800	Active TSS	Brain Hippocampus Middle	brain
26	chr3:70120400-70121800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr3:70120400-70121800	Active TSS	Stomach Smooth Muscle	stomach

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