Variant report

Variant	rs4823049
Chromosome Location	chr22:29992948-29992949
allele	C/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:
2	chr22:29991379..29993013-chr22:29996011..29997879,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11090572	0.93[EUR][1000 genomes]
rs11704455	0.85[EUR][1000 genomes]
rs12165952	0.88[EUR][1000 genomes]
rs12167058	0.82[EUR][1000 genomes]
rs13054076	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1800539	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2348686	0.85[EUR][1000 genomes]
rs2530662	0.90[EUR][1000 genomes]
rs55684603	0.86[EUR][1000 genomes]
rs5752946	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763378	0.90[EUR][1000 genomes]
rs62227968	0.95[EUR][1000 genomes]
rs6519792	0.81[EUR][1000 genomes]
rs6519793	0.83[EUR][1000 genomes]
rs8140060	0.83[EUR][1000 genomes]
rs9625841	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[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:26 , 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	chr22:29992200-29993000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr22:29992400-29993000	Enhancers	Colonic Mucosa	Colon
8	chr22:29992600-29993200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:29992600-29993200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr22:29992600-29994200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
11	chr22:29992800-29993000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr22:29992800-29993000	Enhancers	Fetal Kidney	kidney
13	chr22:29992800-29993000	Flanking Active TSS	HepG2	liver
14	chr22:29992800-29993200	Flanking Active TSS	Placenta	Placenta
15	chr22:29992800-29993400	Active TSS	Brain Anterior Caudate	brain
16	chr22:29992800-29993600	Active TSS	Primary T cells from cord blood	blood
17	chr22:29992800-29993600	Active TSS	Primary T cells fromperipheralblood	blood
18	chr22:29992800-29993600	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr22:29992800-29993600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr22:29992800-29993600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:29992800-29993600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:29992800-29993600	Active TSS	Brain Hippocampus Middle	brain
23	chr22:29992800-29993600	Active TSS	Ovary	ovary
24	chr22:29992800-29993600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr22:29992800-29993600	Active TSS	Rectal Smooth Muscle	rectum
26	chr22:29992800-29999000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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