Variant report

Variant	rs1316959
Chromosome Location	chr12:44771815-44771816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10880646	0.85[EUR][1000 genomes]
rs1353148	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55702001	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55726837	0.86[EUR][1000 genomes]
rs55761438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55882010	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55921214	0.85[EUR][1000 genomes]
rs56126066	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56204845	1.00[EUR][1000 genomes]
rs56209461	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56246701	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56286815	0.85[EUR][1000 genomes]
rs68098210	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086772	0.91[AMR][1000 genomes]
rs73086790	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73086798	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088659	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088660	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088663	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088667	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088671	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088684	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088689	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088699	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088702	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090608	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090670	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090676	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090679	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090700	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092503	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092508	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092511	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094321	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73094394	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73094402	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73096308	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73096318	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73096329	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
2	chr12:44754000-44775600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:44762000-44777400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:44767400-44773000	Weak transcription	HMEC	breast
6	chr12:44768200-44773400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:44769000-44772400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:44769800-44772000	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:44769800-44773800	Weak transcription	Psoas Muscle	Psoas
10	chr12:44770000-44784400	Weak transcription	Pancreas	Pancrea
11	chr12:44770000-44785200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:44770200-44774200	Weak transcription	HSMMtube	muscle
13	chr12:44770600-44772800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:44770800-44772000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:44770800-44773400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:44770800-44775400	Enhancers	Fetal Brain Female	brain
17	chr12:44771200-44772200	Enhancers	Fetal Brain Male	brain
18	chr12:44771200-44775800	Weak transcription	Left Ventricle	heart
19	chr12:44771200-44781800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:44771400-44772400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:44771600-44772000	Enhancers	Colon Smooth Muscle	Colon
22	chr12:44771600-44772000	Enhancers	Fetal Muscle Leg	muscle
23	chr12:44771600-44772000	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:44771800-44772000	Enhancers	HUES48 Cell Line	embryonic stem cell

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