Variant report

Variant	rs5994405
Chromosome Location	chr22:31984827-31984828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31983609..31985774-chr22:32339217..32341040,2	MCF-7	breast:
2	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
3	chr22:31982271..31984848-chr22:32044660..32046890,2	MCF-7	breast:
4	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
5	chr22:31974667..31977596-chr22:31983172..31985417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128245	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16989291	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747156	0.86[EUR][1000 genomes]
rs3747157	0.86[EUR][1000 genomes]
rs55883820	0.89[EUR][1000 genomes]
rs55989741	0.83[EUR][1000 genomes]
rs56219558	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56338522	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994404	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994412	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5998045	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73160648	0.83[EUR][1000 genomes]
rs73160657	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160662	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160669	0.89[EUR][1000 genomes]
rs73160697	0.82[EUR][1000 genomes]
rs8139890	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9784236	0.81[AMR][1000 genomes];0.85[EUR][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	nsv914979	chr22:31964043-31990184	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
2	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
6	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
8	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
10	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
12	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
14	chr22:31976200-32014800	Weak transcription	A549	lung
15	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
17	chr22:31977000-31985400	Weak transcription	Stomach Mucosa	stomach
18	chr22:31978200-31987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:31978400-31985800	Strong transcription	Thymus	Thymus
20	chr22:31978600-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:31979600-31985800	Strong transcription	Dnd41	blood
22	chr22:31979600-31986200	Strong transcription	Primary T cells from cord blood	blood
23	chr22:31979600-31986200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:31979600-31986400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:31979800-31985800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:31979800-31985800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr22:31979800-31986200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:31979800-31986200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr22:31980000-31985800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr22:31981000-31985200	Strong transcription	Fetal Brain Female	brain
33	chr22:31981000-31985800	Strong transcription	Brain Germinal Matrix	brain
34	chr22:31981200-31986400	Weak transcription	Fetal Heart	heart
35	chr22:31981400-31986200	Strong transcription	Fetal Stomach	stomach
36	chr22:31981600-31985800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr22:31981600-31985800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:31981800-31985200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:31981800-31995600	Weak transcription	HUVEC	blood vessel
40	chr22:31982000-31985800	Strong transcription	Brain Substantia Nigra	brain
41	chr22:31982000-31985800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr22:31982000-31989800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr22:31982000-31998000	Weak transcription	Brain Angular Gyrus	brain
44	chr22:31982200-31985000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr22:31982200-31985400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:31982400-31985400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:31982400-31998200	Weak transcription	Gastric	stomach
48	chr22:31982600-31985400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:31982600-31985400	Enhancers	HepG2	liver
50	chr22:31982600-31986200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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