Variant report

Variant	rs2024747
Chromosome Location	chr22:31914697-31914698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1044085	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap]
rs11089512	1.00[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11089514	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089515	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12166823	0.90[CEU][hapmap];1.00[LWK][hapmap];0.83[TSI][hapmap]
rs12170867	0.90[CEU][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12484606	0.83[ASN][1000 genomes]
rs12485048	0.92[TSI][hapmap]
rs12628465	1.00[MKK][hapmap]
rs13056823	0.91[ASN][1000 genomes]
rs1543416	0.86[JPT][hapmap]
rs17821102	0.86[CHB][hapmap];0.90[AFR][1000 genomes]
rs2092905	0.95[JPT][hapmap]
rs2236033	0.85[JPT][hapmap]
rs2295242	0.95[JPT][hapmap]
rs2387	0.95[JPT][hapmap]
rs2413053	0.92[ASN][1000 genomes]
rs3818134	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4535154	0.88[ASN][1000 genomes]
rs4820051	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs4820976	0.82[ASN][1000 genomes]
rs4820978	0.90[ASN][1000 genomes]
rs4820979	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4820980	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4820981	0.87[ASN][1000 genomes]
rs4820983	0.86[JPT][hapmap]
rs5749278	0.83[CHB][hapmap];0.90[AFR][1000 genomes]
rs5749280	0.86[CHB][hapmap];0.90[AFR][1000 genomes]
rs5749287	0.89[ASN][1000 genomes]
rs5749293	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749297	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749301	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749303	1.00[ASW][hapmap];0.88[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749304	0.86[JPT][hapmap]
rs5749306	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs5753559	1.00[MKK][hapmap]
rs5753620	1.00[ASW][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[TSI][hapmap]
rs5753622	1.00[ASW][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes]
rs5753627	0.86[CHB][hapmap];0.90[AFR][1000 genomes]
rs5753633	1.00[ASW][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes]
rs5753635	0.90[AFR][1000 genomes]
rs5753647	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753650	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753657	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753667	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs5753675	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753677	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753680	0.89[ASN][1000 genomes]
rs5753681	1.00[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753684	0.89[ASN][1000 genomes]
rs5753686	0.86[JPT][hapmap]
rs5753687	0.88[ASN][1000 genomes]
rs5753691	0.90[JPT][hapmap]
rs5753714	0.85[JPT][hapmap]
rs59285943	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5994415	0.85[JPT][hapmap]
rs5998011	0.88[ASN][1000 genomes]
rs5998032	0.89[ASN][1000 genomes]
rs5998042	0.82[JPT][hapmap]
rs5998054	0.85[JPT][hapmap]
rs5998087	1.00[MKK][hapmap]
rs7288464	0.84[ASN][1000 genomes]
rs7291918	0.85[JPT][hapmap]
rs738656	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs738702	1.00[ASW][hapmap];0.90[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs9306266	0.93[ASN][1000 genomes]
rs9306268	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9621269	0.91[CHB][hapmap];0.81[JPT][hapmap];0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9621291	0.84[EUR][1000 genomes]
rs9621305	0.90[CEU][hapmap];1.00[LWK][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1059314	chr22:31893613-31936088	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv914978	chr22:31897795-31942770	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893200-31934800	Weak transcription	Ovary	ovary
2	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:31893600-31925600	Weak transcription	Gastric	stomach
5	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
8	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
10	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
12	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
15	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
17	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:31893800-31934800	Weak transcription	HMEC	breast
19	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
20	chr22:31894000-31926400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
23	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:31897200-31924800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:31898000-31934800	Weak transcription	Spleen	Spleen
26	chr22:31900200-31926400	Weak transcription	HSMM	muscle
27	chr22:31900800-31919000	Weak transcription	HUVEC	blood vessel
28	chr22:31900800-31940800	Weak transcription	NHEK	skin
29	chr22:31901000-31926200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:31901000-31926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:31901800-31926000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr22:31902400-31915000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr22:31903400-31934400	Weak transcription	Hela-S3	cervix
34	chr22:31904400-31944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:31904600-31918600	Strong transcription	Primary T cells from cord blood	blood
36	chr22:31905000-31926400	Weak transcription	NHDF-Ad	bronchial
37	chr22:31905200-31957200	Weak transcription	A549	lung
38	chr22:31905600-31921400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:31905600-31925600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr22:31905600-31926400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:31905600-31928800	Weak transcription	Aorta	Aorta
42	chr22:31905600-31946200	Weak transcription	Esophagus	oesophagus
43	chr22:31905800-31926400	Weak transcription	Osteobl	bone
44	chr22:31905800-31926600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr22:31905800-31926600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr22:31907000-31914800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:31907400-31924000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:31907400-31946400	Weak transcription	Brain Germinal Matrix	brain
49	chr22:31907400-31946600	Weak transcription	Left Ventricle	heart
50	chr22:31907600-31946200	Weak transcription	Fetal Muscle Trunk	muscle

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