Variant report

Variant	rs5994306
Chromosome Location	chr22:30825696-30825697
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30824591..30827043-chr22:30978267..30980699,2	MCF-7	breast:
2	chr22:30818782..30821257-chr22:30824236..30826444,3	MCF-7	breast:
3	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
4	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100003	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1005835	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1010324	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11089447	0.86[AMR][1000 genomes]
rs11089448	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11089449	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11703867	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11705639	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12171261	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2072160	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074731	0.80[EUR][1000 genomes]
rs2267154	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2267155	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2267156	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2283870	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2283871	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2299827	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2839998	0.81[EUR][1000 genomes]
rs57940170	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5994294	0.80[EUR][1000 genomes]
rs5994305	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5997637	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997646	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61583714	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7288366	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7289360	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7290317	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8141656	0.80[EUR][1000 genomes]
rs9619098	0.80[EUR][1000 genomes]
rs9619105	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620984	0.91[AMR][1000 genomes];0.97[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30822400-30826000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30822400-30834400	Weak transcription	Small Intestine	intestine
3	chr22:30822600-30827000	Weak transcription	Psoas Muscle	Psoas
4	chr22:30822600-30831600	Weak transcription	Right Atrium	heart
5	chr22:30822600-30832000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr22:30822800-30826400	Weak transcription	NHLF	lung
7	chr22:30822800-30828000	Weak transcription	Fetal Intestine Large	intestine
8	chr22:30822800-30828200	Weak transcription	Ovary	ovary
9	chr22:30822800-30831600	Weak transcription	Right Ventricle	heart
10	chr22:30822800-30832000	Weak transcription	Left Ventricle	heart
11	chr22:30823000-30825800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:30823000-30826000	Strong transcription	Fetal Intestine Small	intestine
13	chr22:30823000-30826400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:30823000-30826400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:30823000-30827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:30823000-30831000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:30823000-30831000	Weak transcription	NH-A	brain
18	chr22:30823000-30831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:30823000-30831200	Weak transcription	Fetal Thymus	thymus
20	chr22:30823000-30831600	Weak transcription	Colonic Mucosa	Colon
21	chr22:30823200-30825800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:30823200-30826000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:30823200-30826200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:30823200-30826800	Weak transcription	Primary B cells from cord blood	blood
25	chr22:30823200-30831000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr22:30823200-30831000	Weak transcription	HUVEC	blood vessel
27	chr22:30823200-30831200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:30823200-30831600	Weak transcription	Thymus	Thymus
29	chr22:30823200-30831600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr22:30823200-30833600	Weak transcription	Stomach Mucosa	stomach
31	chr22:30823400-30826000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:30823400-30826200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:30823400-30828000	Weak transcription	HepG2	liver
34	chr22:30823400-30829600	Weak transcription	HMEC	breast
35	chr22:30823400-30830200	Weak transcription	Lung	lung
36	chr22:30823400-30830800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr22:30823600-30825800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:30823600-30826600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr22:30823600-30826600	Weak transcription	Brain Germinal Matrix	brain
40	chr22:30823600-30827200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr22:30823600-30828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:30823600-30830800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr22:30823800-30825800	Strong transcription	Dnd41	blood
44	chr22:30823800-30830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr22:30824000-30830600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr22:30824200-30825800	Strong transcription	Gastric	stomach
47	chr22:30824400-30826600	Strong transcription	Esophagus	oesophagus
48	chr22:30824400-30831400	Weak transcription	Placenta	Placenta
49	chr22:30824400-30839000	Weak transcription	Hela-S3	cervix
50	chr22:30824600-30826400	Strong transcription	Spleen	Spleen

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