Variant report

Variant	rs2413054
Chromosome Location	chr22:31904170-31904171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1076674	0.85[MEX][hapmap]
rs11703079	0.85[MEX][hapmap]
rs11704156	1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs16989291	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs16989374	0.85[MEX][hapmap]
rs3091392	0.86[MEX][hapmap]
rs3747156	1.00[CEU][hapmap]
rs3804088	0.85[MEX][hapmap]
rs4820972	1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs5749277	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753649	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753683	1.00[CHD][hapmap]
rs5998023	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998045	0.86[EUR][1000 genomes]
rs5998068	0.85[MEX][hapmap]
rs5998098	0.85[MEX][hapmap]
rs695413	0.84[AMR][1000 genomes]
rs695455	0.86[MEX][hapmap]
rs695582	0.84[AMR][1000 genomes]
rs7287715	0.86[MEX][hapmap]
rs73160645	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160648	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738655	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738658	0.86[MEX][hapmap]
rs9784236	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3334530	chr22:31889221-31909085	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
6	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893000-31905200	Weak transcription	Aorta	Aorta
2	chr22:31893200-31912200	Weak transcription	Small Intestine	intestine
3	chr22:31893200-31934800	Weak transcription	Ovary	ovary
4	chr22:31893400-31905200	Weak transcription	Fetal Intestine Large	intestine
5	chr22:31893400-31907200	Weak transcription	Fetal Intestine Small	intestine
6	chr22:31893400-31909000	Weak transcription	Liver	Liver
7	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:31893600-31904600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:31893600-31904600	Weak transcription	A549	lung
11	chr22:31893600-31904800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:31893600-31907000	Weak transcription	Lung	lung
13	chr22:31893600-31909000	Weak transcription	Fetal Brain Male	brain
14	chr22:31893600-31925600	Weak transcription	Gastric	stomach
15	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
18	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
20	chr22:31893800-31904800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr22:31893800-31907000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr22:31893800-31907400	Weak transcription	Right Ventricle	heart
23	chr22:31893800-31913400	Weak transcription	Fetal Muscle Leg	muscle
24	chr22:31893800-31914600	Weak transcription	HepG2	liver
25	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
27	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
30	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
32	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:31893800-31934800	Weak transcription	HMEC	breast
34	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
35	chr22:31894000-31904600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr22:31894000-31904800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr22:31894000-31905200	Weak transcription	Thymus	Thymus
38	chr22:31894000-31913200	Weak transcription	K562	blood
39	chr22:31894000-31926400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
42	chr22:31894400-31907200	Weak transcription	Fetal Stomach	stomach
43	chr22:31894400-31913600	Weak transcription	Primary B cells from cord blood	blood
44	chr22:31895200-31906200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:31895600-31904800	Weak transcription	Fetal Thymus	thymus
47	chr22:31897200-31924800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:31898000-31904600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:31898000-31904600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:31898000-31904600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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