Variant report

Variant	rs62239378
Chromosome Location	chr22:31699702-31699703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31698842..31701111-chr22:31739718..31741864,2	MCF-7	breast:
2	chr22:31689960..31693778-chr22:31698735..31700616,3	MCF-7	breast:
3	chr22:31529812..31532616-chr22:31699068..31700741,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12160763	0.86[ASN][1000 genomes]
rs16989519	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17833442	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2180142	0.82[EUR][1000 genomes]
rs55888048	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55997441	0.80[EUR][1000 genomes]
rs62236168	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236170	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62236183	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62237437	0.80[EUR][1000 genomes]
rs62237446	0.80[EUR][1000 genomes]
rs62239379	0.86[ASN][1000 genomes]
rs73158601	0.86[ASN][1000 genomes]
rs878654	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31689400-31709000	Weak transcription	Placenta	Placenta
2	chr22:31690200-31704200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr22:31692600-31709200	Weak transcription	Stomach Mucosa	stomach
4	chr22:31693400-31700800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:31693400-31702400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr22:31693400-31709200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:31693800-31720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:31694000-31700800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:31694200-31702600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:31695000-31703000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:31695800-31700000	Weak transcription	Primary T cells from cord blood	blood
12	chr22:31697000-31709400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:31697400-31702600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr22:31697400-31704800	Weak transcription	Small Intestine	intestine
15	chr22:31697800-31702600	Weak transcription	HepG2	liver
16	chr22:31698000-31709200	Weak transcription	Adipose Nuclei	Adipose
17	chr22:31698400-31702400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr22:31698400-31709200	Weak transcription	Fetal Intestine Small	intestine
19	chr22:31698600-31702200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr22:31698600-31702400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:31698600-31702400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr22:31698800-31702000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:31698800-31702400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr22:31699000-31702200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:31699200-31702400	Weak transcription	Primary T cells fromperipheralblood	blood

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