Variant report

Variant	rs73402653
Chromosome Location	chr22:30578861-30578862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30578652..30582637-chr22:30590732..30593754,4	K562	blood:
2	chr22:30578196..30581092-chr22:30585737..30587811,3	MCF-7	breast:
3	chr22:30578823..30581368-chr22:30643689..30645542,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16988115	1.00[AMR][1000 genomes]
rs16988122	1.00[AMR][1000 genomes]
rs16988151	1.00[AMR][1000 genomes]
rs16988387	0.83[AFR][1000 genomes]
rs57724305	1.00[AMR][1000 genomes]
rs58952888	0.83[AMR][1000 genomes]
rs59580785	1.00[AMR][1000 genomes]
rs5997565	1.00[AMR][1000 genomes]
rs6006309	1.00[AMR][1000 genomes]
rs6006317	1.00[AMR][1000 genomes]
rs6006318	1.00[AMR][1000 genomes]
rs6006331	1.00[AMR][1000 genomes]
rs60964812	1.00[AMR][1000 genomes]
rs61043203	1.00[AMR][1000 genomes]
rs61191536	1.00[AMR][1000 genomes]
rs73398637	1.00[AMR][1000 genomes]
rs73398640	1.00[AMR][1000 genomes]
rs73398663	1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400633	1.00[AMR][1000 genomes]
rs73400648	1.00[AMR][1000 genomes]
rs73400675	1.00[AMR][1000 genomes]
rs73400689	1.00[AMR][1000 genomes]
rs73402619	1.00[AMR][1000 genomes]
rs73402627	1.00[AMR][1000 genomes]
rs73402640	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402644	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402667	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[AMR][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	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
2	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
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv524628	chr22:30575163-30581722	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30572800-30579000	Weak transcription	Fetal Brain Male	brain
2	chr22:30573600-30579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:30574400-30583600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:30574800-30579400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:30575000-30579800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:30575000-30583600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr22:30575200-30580000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:30575400-30579000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:30575400-30584400	Enhancers	Primary hematopoietic stem cells	blood
10	chr22:30575400-30584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:30575600-30579800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr22:30575600-30583400	Weak transcription	Primary T cells from cord blood	blood
13	chr22:30575600-30584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr22:30576200-30588000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr22:30576400-30579800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:30577200-30580200	Enhancers	HepG2	liver
17	chr22:30577600-30579000	Enhancers	Fetal Intestine Large	intestine
18	chr22:30577600-30580200	Enhancers	Fetal Lung	lung
19	chr22:30577600-30589600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr22:30577600-30591400	Enhancers	A549	lung
21	chr22:30578000-30579000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr22:30578000-30579600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr22:30578000-30585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:30578200-30579200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr22:30578200-30584800	Weak transcription	Spleen	Spleen
26	chr22:30578400-30579600	Enhancers	Placenta	Placenta
27	chr22:30578400-30580800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:30578400-30581000	Enhancers	Dnd41	blood
29	chr22:30578400-30581400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:30578600-30579200	Weak transcription	Fetal Thymus	thymus
31	chr22:30578600-30580600	Weak transcription	Stomach Mucosa	stomach
32	chr22:30578600-30581000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr22:30578600-30581000	Weak transcription	Small Intestine	intestine
34	chr22:30578600-30581200	Weak transcription	Fetal Stomach	stomach
35	chr22:30578800-30579200	Weak transcription	K562	blood
36	chr22:30578800-30580000	Weak transcription	Fetal Intestine Small	intestine
37	chr22:30578800-30581000	Weak transcription	Pancreas	Pancrea

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