Variant report

Variant	rs12485131
Chromosome Location	chr22:31910510-31910511
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12169794	1.00[EUR][1000 genomes]
rs12484233	0.82[AMR][1000 genomes]
rs12484646	1.00[EUR][1000 genomes]
rs12484858	0.83[AMR][1000 genomes]
rs12485004	1.00[EUR][1000 genomes]
rs12485142	0.84[AMR][1000 genomes]
rs2295240	1.00[EUR][1000 genomes]
rs2295241	0.91[AMR][1000 genomes]
rs2413055	0.91[AMR][1000 genomes]
rs35208364	1.00[EUR][1000 genomes]
rs3788435	0.83[AMR][1000 genomes]
rs5753561	1.00[EUR][1000 genomes]
rs5753574	1.00[EUR][1000 genomes]
rs58659480	1.00[EUR][1000 genomes]
rs58915086	1.00[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	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
6	esv3520575	chr22:31910402-31914600	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893200-31912200	Weak transcription	Small Intestine	intestine
2	chr22:31893200-31934800	Weak transcription	Ovary	ovary
3	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:31893600-31925600	Weak transcription	Gastric	stomach
6	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
9	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
11	chr22:31893800-31913400	Weak transcription	Fetal Muscle Leg	muscle
12	chr22:31893800-31914600	Weak transcription	HepG2	liver
13	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
15	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
17	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
20	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:31893800-31934800	Weak transcription	HMEC	breast
22	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
23	chr22:31894000-31913200	Weak transcription	K562	blood
24	chr22:31894000-31926400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
27	chr22:31894400-31913600	Weak transcription	Primary B cells from cord blood	blood
28	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:31897200-31924800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:31898000-31934800	Weak transcription	Spleen	Spleen
31	chr22:31900200-31914600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr22:31900200-31926400	Weak transcription	HSMM	muscle
33	chr22:31900600-31913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:31900800-31919000	Weak transcription	HUVEC	blood vessel
35	chr22:31900800-31940800	Weak transcription	NHEK	skin
36	chr22:31901000-31911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr22:31901000-31926200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:31901000-31926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr22:31901800-31926000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:31902000-31914000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr22:31902400-31915000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr22:31903400-31934400	Weak transcription	Hela-S3	cervix
43	chr22:31903600-31913800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr22:31903800-31910600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:31903800-31913600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr22:31904400-31944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:31904600-31912000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr22:31904600-31914200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:31904600-31918600	Strong transcription	Primary T cells from cord blood	blood
50	chr22:31904800-31912200	Strong transcription	Fetal Thymus	thymus

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