Variant report

Variant	rs1010324
Chromosome Location	chr22:30795889-30795890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
2	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:

Variant related genes	Relation type
ENSG00000273350	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000222915	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1005835	0.84[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs11089442	0.82[CEU][hapmap]
rs11089447	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11089448	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11089449	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11703385	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11703867	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11705639	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12171261	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072160	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2074731	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2267154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283866	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2283870	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2283871	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299827	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2839998	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57940170	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5994294	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5994305	1.00[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5994306	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997637	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997646	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61583714	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71331235	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7288366	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7289360	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7290317	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8141656	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9619096	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs9619098	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9619105	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9620984	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30794000-30816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30794000-30818000	Weak transcription	Right Atrium	heart
3	chr22:30794200-30796200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:30794200-30797800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:30794200-30797800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:30794400-30802200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:30794400-30811800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:30794600-30796200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:30794600-30796400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:30794600-30798000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30794600-30798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:30794600-30802200	Weak transcription	Aorta	Aorta
13	chr22:30794600-30803200	Weak transcription	Fetal Brain Male	brain
14	chr22:30794600-30803200	Weak transcription	Lung	lung
15	chr22:30794600-30811400	Weak transcription	Right Ventricle	heart
16	chr22:30794800-30796200	Enhancers	HepG2	liver
17	chr22:30794800-30796400	Enhancers	Stomach Smooth Muscle	stomach
18	chr22:30794800-30796600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:30794800-30796600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:30794800-30796600	Enhancers	Fetal Thymus	thymus
21	chr22:30794800-30797800	Weak transcription	A549	lung
22	chr22:30794800-30798000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr22:30794800-30802800	Weak transcription	Hela-S3	cervix
24	chr22:30794800-30811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:30794800-30811600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr22:30794800-30818600	Weak transcription	Primary B cells from cord blood	blood
27	chr22:30795000-30796000	Active TSS	Brain Substantia Nigra	brain
28	chr22:30795000-30796400	Enhancers	Brain Hippocampus Middle	brain
29	chr22:30795000-30802600	Weak transcription	Fetal Lung	lung
30	chr22:30795000-30809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr22:30795000-30814600	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:30795200-30796000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:30795200-30796000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:30795200-30796200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:30795200-30796200	Enhancers	Brain Cingulate Gyrus	brain
36	chr22:30795200-30796400	Enhancers	Esophagus	oesophagus
37	chr22:30795200-30796600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:30795200-30797800	Weak transcription	Brain Angular Gyrus	brain
39	chr22:30795200-30797800	Weak transcription	Fetal Intestine Large	intestine
40	chr22:30795200-30797800	Weak transcription	Ovary	ovary
41	chr22:30795200-30797800	Weak transcription	Stomach Mucosa	stomach
42	chr22:30795200-30797800	Weak transcription	Osteobl	bone
43	chr22:30795200-30798000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:30795200-30798000	Weak transcription	K562	blood
45	chr22:30795200-30798200	Weak transcription	HUVEC	blood vessel
46	chr22:30795200-30799200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr22:30795200-30799200	Strong transcription	Fetal Intestine Small	intestine
48	chr22:30795200-30799400	Weak transcription	Thymus	Thymus
49	chr22:30795200-30801200	Weak transcription	Gastric	stomach
50	chr22:30795200-30801400	Weak transcription	Primary T cells from cord blood	blood

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