Variant report

Variant	rs5997932
Chromosome Location	chr22:31668154-31668155
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31642122..31645635-chr22:31666318..31668990,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11703927	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166373	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12167361	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13056815	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13057841	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs131200	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131202	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131209	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131213	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131219	0.87[EUR][1000 genomes]
rs140074	0.93[EUR][1000 genomes]
rs140077	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2009132	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013254	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2413048	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28523714	0.82[EUR][1000 genomes]
rs28715	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28716	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28813120	0.94[EUR][1000 genomes]
rs34873968	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820045	0.84[EUR][1000 genomes]
rs4820961	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820969	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753558	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5753576	0.87[EUR][1000 genomes]
rs5997887	0.80[EUR][1000 genomes]
rs5997900	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997909	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997919	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997929	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997938	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997960	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs713947	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285171	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7287402	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288643	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288735	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289189	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7289337	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs739427	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141987	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8143002	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9606835	0.85[EUR][1000 genomes]
rs9619187	0.95[EUR][1000 genomes]
rs9621216	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9621221	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9621227	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5997932	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31644600-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:31645000-31668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr22:31645000-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:31650200-31675600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:31650200-31679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:31650600-31676400	Weak transcription	Hela-S3	cervix
8	chr22:31651400-31670200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:31651800-31675800	Strong transcription	HMEC	breast
10	chr22:31652800-31675800	Strong transcription	NHEK	skin
11	chr22:31652800-31679400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:31653400-31670200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr22:31653600-31668400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr22:31653800-31668600	Weak transcription	Fetal Brain Male	brain
15	chr22:31653800-31670800	Strong transcription	Primary T cells from cord blood	blood
16	chr22:31653800-31676200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:31654000-31668400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr22:31654000-31668400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:31654000-31668400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:31654000-31668800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:31654000-31669000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr22:31654000-31676400	Strong transcription	Thymus	Thymus
23	chr22:31654000-31680400	Strong transcription	Lung	lung
24	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
25	chr22:31654200-31668600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr22:31654200-31677200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:31654200-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:31654200-31680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:31654400-31679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:31655200-31668600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:31655400-31680800	Weak transcription	K562	blood
32	chr22:31656600-31671000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr22:31656800-31668600	Weak transcription	NHDF-Ad	bronchial
34	chr22:31656800-31674000	Weak transcription	Brain Angular Gyrus	brain
35	chr22:31657800-31681200	Strong transcription	Adipose Nuclei	Adipose
36	chr22:31659000-31685600	Weak transcription	Psoas Muscle	Psoas
37	chr22:31659400-31678600	Strong transcription	Fetal Muscle Leg	muscle
38	chr22:31660600-31670800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr22:31661400-31671800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:31661400-31677800	Weak transcription	A549	lung
41	chr22:31661600-31668800	Strong transcription	Brain Anterior Caudate	brain
42	chr22:31661600-31668800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr22:31661600-31673800	Strong transcription	Fetal Thymus	thymus
44	chr22:31661600-31674200	Strong transcription	Liver	Liver
45	chr22:31661800-31669800	Strong transcription	Brain Substantia Nigra	brain
46	chr22:31661800-31677000	Strong transcription	Spleen	Spleen
47	chr22:31661800-31677600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr22:31662200-31671800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr22:31663800-31673000	Genic enhancers	Placenta	Placenta
50	chr22:31664200-31669000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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