Variant report

Variant	rs5996491
Chromosome Location	chr22:23555901-23555902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11702988	1.00[ASN][1000 genomes]
rs11703730	1.00[ASN][1000 genomes]
rs11704318	1.00[ASN][1000 genomes]
rs12157290	1.00[ASN][1000 genomes]
rs12160795	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16998648	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs28742008	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs5996486	1.00[AMR][1000 genomes]
rs5996487	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5996489	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5996493	1.00[ASN][1000 genomes]
rs5996494	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996495	0.80[AMR][1000 genomes]
rs5996496	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6003552	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003553	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003554	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003557	0.90[AMR][1000 genomes]
rs6003559	0.90[AMR][1000 genomes]
rs6003560	0.90[AMR][1000 genomes]
rs6003561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003566	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003567	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003568	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003569	0.80[AMR][1000 genomes]
rs6003576	1.00[ASN][1000 genomes]
rs62219783	1.00[ASN][1000 genomes]
rs7284383	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7285367	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7286520	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7286963	1.00[ASN][1000 genomes]
rs7287313	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7287429	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7288943	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7289320	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7290258	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7290260	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7290275	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7290643	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7291888	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7292343	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8136130	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8137379	1.00[ASN][1000 genomes]
rs8138947	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8139366	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141268	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8142547	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608087	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23526400-23560800	Weak transcription	A549	lung
2	chr22:23530400-23558800	Weak transcription	Small Intestine	intestine
3	chr22:23530600-23557200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr22:23535000-23556000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:23535800-23559400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:23536000-23557200	Weak transcription	Hela-S3	cervix
7	chr22:23536400-23557600	Weak transcription	NHLF	lung
8	chr22:23536400-23557800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:23536600-23557600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:23542200-23557200	Weak transcription	NH-A	brain
11	chr22:23542400-23557600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:23546200-23557400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:23546400-23557600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:23547200-23559400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:23547200-23560200	Weak transcription	Colonic Mucosa	Colon
16	chr22:23547400-23559400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:23547600-23556000	Weak transcription	Stomach Mucosa	stomach
18	chr22:23547600-23556800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:23547600-23557200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:23547600-23557800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:23547600-23558800	Weak transcription	Fetal Brain Male	brain
22	chr22:23547800-23556600	Weak transcription	Ovary	ovary
23	chr22:23547800-23557400	Weak transcription	Aorta	Aorta
24	chr22:23547800-23560400	Weak transcription	Fetal Intestine Large	intestine
25	chr22:23548000-23557400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr22:23548200-23556200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr22:23548200-23557600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:23548400-23557200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:23548400-23557400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr22:23548400-23557400	Weak transcription	HMEC	breast
31	chr22:23548400-23560400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr22:23548600-23557400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr22:23550400-23557200	Weak transcription	HepG2	liver
34	chr22:23550400-23557400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:23550600-23556600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:23550600-23556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:23550600-23556600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:23550800-23557400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr22:23551400-23557600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr22:23552400-23564000	Enhancers	Right Ventricle	heart
41	chr22:23552600-23557200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:23552600-23559800	Genic enhancers	K562	blood
43	chr22:23553200-23556400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr22:23553200-23556800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr22:23553200-23562600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr22:23553800-23557400	Enhancers	Brain Hippocampus Middle	brain
47	chr22:23554000-23556000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr22:23554000-23556600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr22:23554000-23556800	Genic enhancers	Fetal Thymus	thymus
50	chr22:23554000-23556800	Enhancers	Skeletal Muscle Female	skeletal muscle

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