Variant report

Variant	rs5753559
Chromosome Location	chr22:31719032-31719033
allele	C/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	chr22:31709484..31711779-chr22:31717632..31720402,2	MCF-7	breast:
2	chr22:31707932..31710940-chr22:31717264..31720146,3	MCF-7	breast:
3	chr22:31686050..31689406-chr22:31717543..31719955,3	MCF-7	breast:
4	chr22:31717438..31719126-chr22:31741074..31742851,2	MCF-7	breast:
5	chr22:31686966..31689242-chr22:31718785..31721540,3	MCF-7	breast:
6	chr22:31718245..31720298-chr22:31725260..31727766,3	MCF-7	breast:
7	chr22:31717141..31720264-chr22:31721162..31724209,3	MCF-7	breast:
8	chr22:31716552..31720411-chr22:31737188..31740902,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1005624	0.81[ASN][1000 genomes]
rs1034587	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11089512	1.00[MKK][hapmap]
rs12627941	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12628465	0.96[GIH][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs17220369	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2024747	1.00[MKK][hapmap]
rs2027982	0.91[JPT][hapmap]
rs2072193	0.81[JPT][hapmap];1.00[MKK][hapmap]
rs2074735	0.81[JPT][hapmap]
rs2239905	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2239906	0.82[ASN][1000 genomes]
rs2267169	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267170	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267171	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap]
rs2283878	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2283880	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2413041	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs28514306	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3788428	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4561750	0.86[CHB][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap]
rs4615	0.91[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap]
rs4820952	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4820964	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4820965	0.87[ASN][1000 genomes]
rs5749231	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs5749232	0.84[JPT][hapmap]
rs5749237	0.86[CHB][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap]
rs5749244	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs5749254	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749260	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753488	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs5753518	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs5753531	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753550	0.85[ASN][1000 genomes]
rs5753551	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs5753560	0.95[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs5753577	0.80[ASN][1000 genomes]
rs5753592	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753595	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5753603	1.00[AFR][1000 genomes]
rs5753614	1.00[AFR][1000 genomes]
rs5753622	1.00[MKK][hapmap]
rs58315696	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997898	0.91[JPT][hapmap]
rs5997940	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs62236175	0.85[ASN][1000 genomes]
rs72617294	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72617295	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72617298	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs737809	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap]
rs886074	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs9609263	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31693800-31720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:31704800-31720200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:31706200-31721000	Weak transcription	HSMMtube	muscle
4	chr22:31708800-31721400	Weak transcription	Ovary	ovary
5	chr22:31709600-31721200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:31709600-31721200	Weak transcription	HSMM	muscle
7	chr22:31709600-31721800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:31709800-31720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31709800-31720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr22:31709800-31721200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr22:31709800-31721200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:31709800-31721200	Weak transcription	Colonic Mucosa	Colon
13	chr22:31709800-31721200	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:31709800-31722200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:31709800-31725400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:31710000-31719800	Weak transcription	Fetal Lung	lung
17	chr22:31710000-31720000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:31710000-31720000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:31710000-31720400	Weak transcription	Placenta	Placenta
20	chr22:31710000-31720800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:31710000-31721000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:31710000-31721200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:31710000-31721200	Weak transcription	Fetal Kidney	kidney
24	chr22:31710000-31721200	Weak transcription	Left Ventricle	heart
25	chr22:31710000-31721200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:31710000-31722000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:31710000-31722200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:31710000-31722600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr22:31710000-31722600	Weak transcription	Stomach Mucosa	stomach
30	chr22:31710000-31723000	Weak transcription	NHEK	skin
31	chr22:31710000-31724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:31710000-31737000	Weak transcription	Fetal Heart	heart
33	chr22:31711600-31719800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr22:31712000-31721000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr22:31712400-31720800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr22:31714400-31720400	Weak transcription	Liver	Liver
37	chr22:31714600-31720000	Weak transcription	Adipose Nuclei	Adipose
38	chr22:31714600-31721400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:31715000-31721200	Weak transcription	Small Intestine	intestine
40	chr22:31715200-31720000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:31716000-31719600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr22:31716000-31721400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:31716200-31719600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr22:31716400-31720200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:31716400-31735600	Strong transcription	Primary T cells from cord blood	blood
46	chr22:31716600-31722200	Weak transcription	Gastric	stomach
47	chr22:31716800-31720000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:31717000-31720000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:31717000-31720000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:31717000-31721200	Weak transcription	Rectal Mucosa Donor 31	rectum

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