Variant report

Variant	rs5753039
Chromosome Location	chr22:30583711-30583712
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30581590..30584656-chr22:30647877..30650932,3	MCF-7	breast:
2	chr22:30582053..30584653-chr22:30584995..30587052,2	MCF-7	breast:
3	chr22:30583372..30585537-chr22:30587327..30589279,2	K562	blood:
4	chr22:30583139..30584831-chr22:30588932..30591308,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11552852	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13055101	0.82[EUR][1000 genomes]
rs16988244	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988291	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988303	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988304	1.00[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988333	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17648208	0.91[EUR][1000 genomes]
rs1807726	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2412980	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41278853	0.89[EUR][1000 genomes]
rs41281623	0.86[EUR][1000 genomes]
rs41281633	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4482600	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4482601	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45629133	0.82[EUR][1000 genomes]
rs4823078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56392746	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56406718	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753038	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5753042	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753043	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5763855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763856	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763857	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763870	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763873	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763878	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162368	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6006383	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60759987	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6518681	1.00[EUR][1000 genomes]
rs6519802	0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs6519805	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs713916	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7285585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286205	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7290175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs737901	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883354	0.80[EUR][1000 genomes]
rs73883355	0.80[EUR][1000 genomes]
rs73883359	0.84[EUR][1000 genomes]
rs73883360	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883363	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883367	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883370	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883374	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883375	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883377	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883378	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8141471	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs962322	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30575400-30584400	Enhancers	Primary hematopoietic stem cells	blood
2	chr22:30575400-30584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr22:30575600-30584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr22:30576200-30588000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr22:30577600-30589600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:30577600-30591400	Enhancers	A549	lung
7	chr22:30578000-30585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:30578200-30584800	Weak transcription	Spleen	Spleen
9	chr22:30579000-30585400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:30579200-30585400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:30579600-30584800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:30579600-30591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:30579800-30585400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr22:30580000-30584600	Weak transcription	NHLF	lung
15	chr22:30580000-30585400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr22:30580000-30586400	Weak transcription	Fetal Thymus	thymus
17	chr22:30580000-30588200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:30580200-30586400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr22:30580200-30591400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:30580600-30587000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:30580800-30583800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:30581000-30584400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:30581000-30588200	Weak transcription	Dnd41	blood
24	chr22:30581200-30583800	Weak transcription	HSMMtube	muscle
25	chr22:30581200-30591400	Weak transcription	Gastric	stomach
26	chr22:30581400-30584200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:30581400-30584800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr22:30581400-30589600	Weak transcription	Pancreas	Pancrea
29	chr22:30581800-30585400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr22:30582000-30586400	Weak transcription	Primary B cells from cord blood	blood
31	chr22:30582200-30584600	Enhancers	Fetal Lung	lung
32	chr22:30582200-30591400	Enhancers	HepG2	liver
33	chr22:30582600-30584200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr22:30582800-30583800	Weak transcription	NHDF-Ad	bronchial
35	chr22:30582800-30584000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr22:30582800-30584000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr22:30582800-30584800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:30582800-30586200	Weak transcription	HSMM	muscle
39	chr22:30582800-30586600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr22:30582800-30591200	Weak transcription	Stomach Mucosa	stomach
41	chr22:30582800-30591400	Weak transcription	Fetal Intestine Large	intestine
42	chr22:30583000-30587000	Weak transcription	Fetal Intestine Small	intestine
43	chr22:30583200-30587000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr22:30583400-30584400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr22:30583400-30584400	Enhancers	Primary T cells from cord blood	blood
46	chr22:30583400-30584400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr22:30583400-30584800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr22:30583400-30585000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr22:30583600-30583800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr22:30583600-30583800	Enhancers	Small Intestine	intestine

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