Variant report

Variant	rs12160448
Chromosome Location	chr22:29102593-29102594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12159808	1.00[AMR][1000 genomes]
rs12160862	1.00[AMR][1000 genomes]
rs12161029	1.00[AMR][1000 genomes]
rs5997402	1.00[AMR][1000 genomes]
rs6005787	1.00[AMR][1000 genomes]
rs6005791	1.00[AMR][1000 genomes]
rs6005836	1.00[AMR][1000 genomes]
rs6005845	1.00[AMR][1000 genomes]
rs7292515	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1064624	chr22:29065528-29130728	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	esv17527	chr22:29066121-29102976	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv513775	chr22:29083731-29137822	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29076200-29103000	Weak transcription	GM12878-XiMat	blood
2	chr22:29076200-29137600	Weak transcription	Esophagus	oesophagus
3	chr22:29076400-29103000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr22:29076400-29105000	Weak transcription	HUVEC	blood vessel
5	chr22:29076400-29105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:29076400-29105800	Weak transcription	NHLF	lung
7	chr22:29076400-29119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:29076400-29129400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:29077200-29105000	Weak transcription	Osteobl	bone
10	chr22:29077400-29106000	Weak transcription	A549	lung
11	chr22:29077600-29102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:29079600-29130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:29082200-29109800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:29082800-29106000	Weak transcription	Liver	Liver
15	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
16	chr22:29083000-29126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:29083600-29104000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:29085000-29116600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr22:29085800-29105000	Weak transcription	HMEC	breast
20	chr22:29086200-29106600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:29086400-29106000	Weak transcription	HSMM	muscle
22	chr22:29087800-29106200	Weak transcription	Fetal Lung	lung
23	chr22:29088600-29118600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr22:29090200-29129000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr22:29090400-29106000	Weak transcription	HSMMtube	muscle
26	chr22:29090400-29110800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:29090600-29137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:29090600-29137200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:29090800-29108000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr22:29091000-29104000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr22:29091000-29116600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:29091000-29120200	Weak transcription	Placenta	Placenta
33	chr22:29092000-29108600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:29092600-29106200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr22:29093200-29103000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr22:29093600-29121800	Weak transcription	Small Intestine	intestine
37	chr22:29093600-29132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr22:29093800-29126600	Weak transcription	Gastric	stomach
39	chr22:29094600-29125000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:29095200-29114600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:29096000-29106200	Weak transcription	Fetal Muscle Leg	muscle
42	chr22:29096200-29103000	Weak transcription	Primary T cells from cord blood	blood
43	chr22:29096600-29106200	Weak transcription	K562	blood
44	chr22:29097000-29130800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:29097200-29105000	Strong transcription	Fetal Stomach	stomach
46	chr22:29098400-29105800	Weak transcription	NHDF-Ad	bronchial
47	chr22:29098600-29108000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:29098800-29111400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr22:29099000-29109600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr22:29099400-29109800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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