Variant report

Variant	rs12484233
Chromosome Location	chr22:31921254-31921255
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31915170..31916943-chr22:31918334..31921689,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483159	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[ASN][1000 genomes]
rs11089503	1.00[JPT][hapmap]
rs12169794	0.86[ASN][1000 genomes]
rs12484188	1.00[ASN][1000 genomes]
rs12484858	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12484966	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12485131	0.82[AMR][1000 genomes]
rs12485142	0.84[AMR][1000 genomes]
rs12485176	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17821048	1.00[JPT][hapmap]
rs17821132	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2273248	0.86[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs2295240	0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs2295241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2413055	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35047625	0.81[ASN][1000 genomes]
rs35208364	0.82[ASN][1000 genomes]
rs3747155	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[ASN][1000 genomes]
rs3788434	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3788435	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41496947	1.00[TSI][hapmap]
rs58055951	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58915086	0.82[AMR][1000 genomes]
rs59416609	0.89[ASN][1000 genomes]
rs7287937	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs7293134	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap]
rs9621263	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9621264	0.82[ASN][1000 genomes]
rs9621270	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893200-31934800	Weak transcription	Ovary	ovary
2	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:31893600-31925600	Weak transcription	Gastric	stomach
4	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
7	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
9	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
11	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
13	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
14	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
16	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:31893800-31934800	Weak transcription	HMEC	breast
18	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
19	chr22:31894000-31926400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
22	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:31897200-31924800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:31898000-31934800	Weak transcription	Spleen	Spleen
25	chr22:31900200-31926400	Weak transcription	HSMM	muscle
26	chr22:31900800-31940800	Weak transcription	NHEK	skin
27	chr22:31901000-31926200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:31901000-31926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:31901800-31926000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr22:31903400-31934400	Weak transcription	Hela-S3	cervix
31	chr22:31904400-31944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:31905000-31926400	Weak transcription	NHDF-Ad	bronchial
33	chr22:31905200-31957200	Weak transcription	A549	lung
34	chr22:31905600-31921400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:31905600-31925600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr22:31905600-31926400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:31905600-31928800	Weak transcription	Aorta	Aorta
38	chr22:31905600-31946200	Weak transcription	Esophagus	oesophagus
39	chr22:31905800-31926400	Weak transcription	Osteobl	bone
40	chr22:31905800-31926600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr22:31905800-31926600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr22:31907400-31924000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr22:31907400-31946400	Weak transcription	Brain Germinal Matrix	brain
44	chr22:31907400-31946600	Weak transcription	Left Ventricle	heart
45	chr22:31907600-31946200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr22:31907800-31934400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:31907800-31942800	Weak transcription	Fetal Intestine Large	intestine
48	chr22:31908000-31926400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:31908200-31924800	Weak transcription	Lung	lung
50	chr22:31908200-31925600	Weak transcription	Muscle Satellite Cultured Cells	--

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