Variant report

Variant	rs73388838
Chromosome Location	chr22:29251962-29251963
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29251341..29252226-chr22:29641199..29642209,3	K562	blood:
2	chr22:29251240..29252297-chr22:29436127..29437425,4	MCF-7	breast:
3	chr22:28996721..28997229-chr22:29251287..29252282,2	K562	blood:
4	chr22:29193593..29195791-chr22:29251610..29254228,2	MCF-7	breast:
5	chr22:29251773..29252310-chr22:29455939..29456487,2	MCF-7	breast:
6	chr22:29225150..29226028-chr22:29251651..29252215,2	K562	blood:
7	chr22:29251315..29252224-chr22:29436300..29437130,6	MCF-7	breast:
8	chr22:29250967..29252256-chr22:29436357..29437306,8	K562	blood:

No data

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12159764	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1547424	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16986714	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1894590	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2269575	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41281601	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4484131	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4645087	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57652775	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59954406	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997399	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997400	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997403	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997404	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005875	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6005876	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6005878	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6005879	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6005893	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6005900	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6005905	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6005906	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6005907	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6005918	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6005920	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005922	0.85[AMR][1000 genomes]
rs60513698	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6519764	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7284322	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7290019	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7290679	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7290958	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7291783	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73388819	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73388827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388828	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388841	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388872	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73399615	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73399621	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9941965	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29246000-29252000	Weak transcription	Ovary	ovary
2	chr22:29251200-29252400	Enhancers	Duodenum Mucosa	Duodenum
3	chr22:29251200-29252400	Enhancers	Fetal Intestine Large	intestine
4	chr22:29251400-29252000	Enhancers	Stomach Mucosa	stomach
5	chr22:29251400-29252200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29251400-29252200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr22:29251400-29252200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr22:29251400-29252400	Enhancers	Fetal Intestine Small	intestine
9	chr22:29251400-29253600	Enhancers	HepG2	liver
10	chr22:29251600-29252000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr22:29251600-29252000	Enhancers	Rectal Smooth Muscle	rectum
12	chr22:29251600-29252200	Enhancers	Brain Cingulate Gyrus	brain
13	chr22:29251600-29252200	Enhancers	Colon Smooth Muscle	Colon
14	chr22:29251600-29252200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:29251600-29252200	Enhancers	Fetal Lung	lung
16	chr22:29251600-29252400	Enhancers	Liver	Liver
17	chr22:29251600-29252400	Enhancers	HMEC	breast
18	chr22:29251800-29252000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr22:29251800-29252000	Enhancers	Fetal Stomach	stomach
20	chr22:29251800-29252000	Enhancers	Pancreas	Pancrea
21	chr22:29251800-29252000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr22:29251800-29252200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:29251800-29252200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr22:29251800-29252200	Enhancers	Brain Angular Gyrus	brain
25	chr22:29251800-29252200	Enhancers	Fetal Kidney	kidney
26	chr22:29251800-29252200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr22:29251800-29252400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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