Variant report

Variant	rs5753723
Chromosome Location	chr22:32002294-32002295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32000740..32002480-chr22:32006073..32008984,2	K562	blood:
2	chr22:32000648..32004011-chr22:32006419..32009000,3	K562	blood:

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1968023	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap]
rs5749286	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs5749298	0.83[CEU][hapmap];1.00[LWK][hapmap];0.81[TSI][hapmap]
rs5753659	0.83[CEU][hapmap]
rs5753669	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs5753671	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs5753698	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap]
rs5998058	0.83[CEU][hapmap];1.00[LWK][hapmap];0.83[TSI][hapmap]
rs5998067	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs7284622	0.83[CEU][hapmap]
rs7285619	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs8138525	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap]
rs8142355	1.00[LWK][hapmap]
rs9606839	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9606843	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9606848	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9609296	0.83[CEU][hapmap]
rs9609297	0.83[CEU][hapmap]
rs9609304	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9609329	0.83[CEU][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	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs5753723	MN1	cis	parietal	SCAN
rs5753723	MTMR3	cis	parietal	SCAN
rs5753723	SFI1	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
4	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
7	chr22:31976200-32014800	Weak transcription	A549	lung
8	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
10	chr22:31982600-32006400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:31985800-32006600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:31985800-32010400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr22:31985800-32012400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:31993200-32013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:31996000-32008400	Strong transcription	Primary T cells from cord blood	blood
20	chr22:31996200-32010000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr22:31996400-32002800	Strong transcription	Dnd41	blood
22	chr22:31996400-32010800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr22:31996600-32010600	Strong transcription	Thymus	Thymus
24	chr22:31996600-32011200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr22:31996600-32011800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr22:31996600-32012200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:31996600-32018200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:31996800-32002600	Strong transcription	GM12878-XiMat	blood
30	chr22:31996800-32011600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr22:31997200-32012000	Strong transcription	Fetal Thymus	thymus
32	chr22:31997400-32002800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr22:31997400-32010400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr22:31997600-32006600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:31997600-32008000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:31997600-32011400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr22:31997800-32002600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:31998000-32002400	Strong transcription	Spleen	Spleen
39	chr22:31998000-32002800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr22:31998000-32008000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr22:31998200-32002400	Strong transcription	Lung	lung
42	chr22:31998400-32002400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:31998400-32008000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr22:31998400-32015600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr22:31998600-32002400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:31998600-32022000	Weak transcription	Fetal Kidney	kidney
47	chr22:31998800-32003800	Weak transcription	Brain Anterior Caudate	brain
48	chr22:31998800-32004200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:31998800-32004400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:31998800-32004600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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