Variant report

Variant	rs57014206
Chromosome Location	chr22:29993412-29993413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29991169..29993450-chr22:30000929..30002699,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56783715	1.00[ASN][1000 genomes]
rs58113244	1.00[ASN][1000 genomes]
rs58808486	0.91[ASN][1000 genomes]
rs59172206	1.00[ASN][1000 genomes]
rs59237579	1.00[ASN][1000 genomes]
rs59422664	1.00[ASN][1000 genomes]
rs59698661	0.91[ASN][1000 genomes]
rs59902813	1.00[ASN][1000 genomes]
rs60020246	1.00[ASN][1000 genomes]
rs6006260	0.91[ASN][1000 genomes]
rs60670183	0.91[ASN][1000 genomes]
rs60751623	0.90[ASN][1000 genomes]
rs60965931	1.00[ASN][1000 genomes]
rs61399074	0.91[ASN][1000 genomes]
rs61432554	1.00[ASN][1000 genomes]
rs61740613	0.90[ASN][1000 genomes]
rs7285384	0.91[ASN][1000 genomes]
rs7288777	0.91[ASN][1000 genomes]
rs8136249	0.90[ASN][1000 genomes]
rs8139885	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29977600-29998800	Weak transcription	Right Atrium	heart
2	chr22:29977800-29994200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:29985200-29999000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:29985200-29999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:29990200-29999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:29992600-29994200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr22:29992800-29993600	Active TSS	Primary T cells from cord blood	blood
8	chr22:29992800-29993600	Active TSS	Primary T cells fromperipheralblood	blood
9	chr22:29992800-29993600	Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr22:29992800-29993600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr22:29992800-29993600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr22:29992800-29993600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:29992800-29993600	Active TSS	Brain Hippocampus Middle	brain
14	chr22:29992800-29993600	Active TSS	Ovary	ovary
15	chr22:29992800-29993600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr22:29992800-29993600	Active TSS	Rectal Smooth Muscle	rectum
17	chr22:29992800-29999000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:29993000-29993600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:29993000-29993600	Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr22:29993000-29993600	Active TSS	Primary B cells from peripheral blood	blood
21	chr22:29993000-29993600	Active TSS	Muscle Satellite Cultured Cells	--
22	chr22:29993000-29993600	Active TSS	Duodenum Mucosa	Duodenum
23	chr22:29993000-29993600	Active TSS	Fetal Kidney	kidney
24	chr22:29993000-29993600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr22:29993000-29993600	Active TSS	Stomach Smooth Muscle	stomach
26	chr22:29993000-29993800	Active TSS	Adipose Nuclei	Adipose
27	chr22:29993200-29993600	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr22:29993200-29993600	Active TSS	Liver	Liver
29	chr22:29993200-29993600	Active TSS	Colonic Mucosa	Colon
30	chr22:29993200-29993600	Active TSS	Placenta	Placenta
31	chr22:29993200-29993600	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr22:29993200-29993600	Bivalent/Poised TSS	HepG2	liver
33	chr22:29993200-29994000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:29993200-29994000	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr22:29993200-29997800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:29993400-29994000	Weak transcription	Fetal Intestine Large	intestine
37	chr22:29993400-29999000	Weak transcription	HSMMtube	muscle

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