Variant report

Variant	rs5753552
Chromosome Location	chr22:31694662-31694663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31687537..31690169-chr22:31691926..31695310,3	K562	blood:
2	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
3	chr22:31678127..31679737-chr22:31693354..31695719,2	MCF-7	breast:
4	chr22:31693951..31696638-chr22:31709561..31711095,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213888	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1557656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9619199	1.00[AMR][1000 genomes]
rs9621260	1.00[AMR][1000 genomes]

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	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31689000-31696400	Weak transcription	HepG2	liver
2	chr22:31689200-31696400	Weak transcription	Liver	Liver
3	chr22:31689200-31696400	Weak transcription	Right Atrium	heart
4	chr22:31689400-31709000	Weak transcription	Placenta	Placenta
5	chr22:31689800-31695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:31690200-31704200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:31692600-31709200	Weak transcription	Stomach Mucosa	stomach
8	chr22:31692800-31697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:31692800-31698400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:31693000-31696200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:31693000-31697800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr22:31693200-31694800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr22:31693200-31695600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr22:31693200-31696200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr22:31693200-31696400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:31693200-31697200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:31693400-31695000	Weak transcription	Primary T cells from cord blood	blood
18	chr22:31693400-31696000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr22:31693400-31696200	Weak transcription	Adipose Nuclei	Adipose
20	chr22:31693400-31696400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:31693400-31696400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr22:31693400-31697000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr22:31693400-31700800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:31693400-31702400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:31693400-31709200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr22:31693800-31696800	Weak transcription	Small Intestine	intestine
27	chr22:31693800-31720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:31694000-31700800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:31694200-31695000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr22:31694200-31696400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr22:31694200-31696400	Weak transcription	Fetal Intestine Large	intestine
32	chr22:31694200-31696400	Weak transcription	Fetal Intestine Small	intestine
33	chr22:31694200-31697800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr22:31694200-31702600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr22:31694400-31694800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr22:31694400-31696400	Weak transcription	Ovary	ovary
37	chr22:31694600-31698000	Weak transcription	Primary T cells fromperipheralblood	blood

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