Variant report

Variant	rs16985976
Chromosome Location	chr22:28490357-28490358
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr22:28490131-28490487	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TTC28	TF binding region

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10154425	0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212007	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10212036	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212040	0.84[AMR][1000 genomes]
rs10212074	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10212083	1.00[ASN][1000 genomes]
rs10483142	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10483143	0.88[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs118840	0.81[EUR][1000 genomes]
rs12166023	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166077	0.86[EUR][1000 genomes]
rs12166158	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166164	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12166253	1.00[ASN][1000 genomes]
rs12166256	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12166719	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166740	0.89[CEU][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs12166912	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166938	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12167735	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs12168054	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168180	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12168251	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12168652	1.00[ASN][1000 genomes]
rs12169888	0.86[EUR][1000 genomes]
rs12170022	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170558	0.88[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12170953	0.80[YRI][hapmap];0.86[EUR][1000 genomes]
rs134194	1.00[ASN][1000 genomes]
rs134197	1.00[ASN][1000 genomes]
rs138636	0.81[EUR][1000 genomes]
rs138637	0.81[EUR][1000 genomes]
rs138639	0.81[EUR][1000 genomes]
rs138640	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs138642	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs138651	0.80[YRI][hapmap];0.86[EUR][1000 genomes]
rs138653	0.80[YRI][hapmap];0.81[EUR][1000 genomes]
rs138654	0.86[EUR][1000 genomes]
rs138655	0.86[EUR][1000 genomes]
rs138656	0.86[EUR][1000 genomes]
rs138658	0.80[YRI][hapmap];0.86[EUR][1000 genomes]
rs138660	0.86[EUR][1000 genomes]
rs138664	0.86[EUR][1000 genomes]
rs138665	0.86[EUR][1000 genomes]
rs138667	0.86[EUR][1000 genomes]
rs138670	0.81[EUR][1000 genomes]
rs138671	0.86[EUR][1000 genomes]
rs138672	0.86[EUR][1000 genomes]
rs16985967	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16986037	0.89[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16986077	0.89[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987005	0.89[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407024	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483887	0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs17484337	0.80[YRI][hapmap];0.86[EUR][1000 genomes]
rs2143420	0.89[YRI][hapmap]
rs2745562	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28375646	0.86[EUR][1000 genomes]
rs28579300	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4036493	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs470098	0.81[EUR][1000 genomes]
rs470102	0.86[EUR][1000 genomes]
rs470103	0.86[EUR][1000 genomes]
rs470104	0.86[EUR][1000 genomes]
rs55856549	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233401	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393679	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57686964	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59103380	0.84[AFR][1000 genomes]
rs59846801	0.84[AFR][1000 genomes]
rs7286519	0.86[EUR][1000 genomes]
rs73880374	0.86[EUR][1000 genomes]
rs73880375	0.86[EUR][1000 genomes]
rs73880376	0.86[EUR][1000 genomes]
rs73880381	0.86[EUR][1000 genomes]
rs73880382	0.92[EUR][1000 genomes]
rs73880383	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880384	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880385	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73880387	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880395	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882704	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	1.00[ASN][1000 genomes]
rs761322	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761323	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306451	0.88[CEU][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9306452	0.87[CEU][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620762	0.86[EUR][1000 genomes]
rs9620764	0.86[EUR][1000 genomes]
rs9620766	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620767	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620768	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9620769	0.89[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620770	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620771	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620779	1.00[ASN][1000 genomes]
rs9625387	0.86[EUR][1000 genomes]
rs9625388	0.86[EUR][1000 genomes]
rs9625390	0.80[YRI][hapmap];0.86[EUR][1000 genomes]
rs9625391	0.89[YRI][hapmap];0.84[EUR][1000 genomes]
rs9625393	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625396	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625397	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625398	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625399	0.88[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625400	0.86[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625402	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625403	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625405	0.88[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625406	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625407	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625408	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625409	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625410	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625413	0.89[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625415	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9625416	0.89[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625417	0.89[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625418	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625421	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625425	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9625430	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9625433	1.00[ASN][1000 genomes]
rs9625437	1.00[ASN][1000 genomes]
rs9625441	1.00[ASN][1000 genomes]
rs9712839	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs988893	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
2	chr22:28471600-28491800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:28471800-28491400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr22:28471800-28492000	Weak transcription	Aorta	Aorta
5	chr22:28472000-28494800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:28472000-28499000	Weak transcription	NHDF-Ad	bronchial
7	chr22:28472200-28498600	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:28472400-28494200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:28472800-28495400	Weak transcription	Pancreas	Pancrea
10	chr22:28472800-28501000	Weak transcription	Gastric	stomach
11	chr22:28480200-28493600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:28480400-28492000	Weak transcription	Fetal Intestine Small	intestine
13	chr22:28480400-28494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:28483600-28500000	Weak transcription	Spleen	Spleen
15	chr22:28485600-28494200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:28485600-28494600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:28485800-28501400	Strong transcription	Dnd41	blood
18	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
19	chr22:28486000-28492200	Weak transcription	Lung	lung
20	chr22:28486000-28507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:28486200-28504400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:28486200-28504800	Weak transcription	Osteobl	bone
23	chr22:28486400-28494000	Weak transcription	Right Ventricle	heart
24	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
25	chr22:28486600-28498400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:28486600-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:28486600-28499400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr22:28486800-28491200	Strong transcription	Adipose Nuclei	Adipose
29	chr22:28486800-28494800	Weak transcription	Brain Angular Gyrus	brain
30	chr22:28486800-28498600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:28487000-28496800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:28487400-28490600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:28487400-28495200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:28487400-28497000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:28487400-28501200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr22:28487600-28504400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr22:28487800-28490400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:28487800-28505000	Weak transcription	Colonic Mucosa	Colon
40	chr22:28488000-28490800	Strong transcription	Fetal Intestine Large	intestine
41	chr22:28488200-28499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:28488400-28491000	Strong transcription	Left Ventricle	heart
43	chr22:28488600-28491800	Weak transcription	Ovary	ovary
44	chr22:28488600-28492000	Enhancers	Fetal Lung	lung
45	chr22:28488800-28493600	Weak transcription	Brain Anterior Caudate	brain
46	chr22:28488800-28493600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr22:28488800-28501000	Weak transcription	Brain Hippocampus Middle	brain
48	chr22:28489000-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:28489000-28508200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr22:28489400-28491800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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