Variant report

Variant	rs620690
Chromosome Location	chr11:64153558-64153559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64132740..64134485-chr11:64152272..64154875,2	MCF-7	breast:
2	chr11:64039098..64041070-chr11:64153446..64155407,2	K562	blood:
3	chr11:64151479..64154106-chr11:64156767..64158653,2	K562	blood:
4	chr11:64125281..64129339-chr11:64152102..64154169,4	K562	blood:
5	chr11:64153349..64156016-chr11:64157804..64160617,2	K562	blood:

Variant related genes	Relation type
ENSG00000162302	Chromatin interaction
ENSG00000002330	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10897489	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12286894	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6591843	0.84[EUR][1000 genomes];0.85[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	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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	180 gene(s)	inside rSNPs	diseases
2	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
4	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64134400-64158400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:64141200-64162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64147800-64162200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:64149400-64153800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:64150600-64163000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:64151000-64155200	Enhancers	Placenta	Placenta
7	chr11:64151200-64154200	Enhancers	Fetal Heart	heart
8	chr11:64151600-64153800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:64151600-64153800	Enhancers	Right Ventricle	heart
10	chr11:64151600-64154000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:64151600-64154000	Enhancers	Right Atrium	heart
12	chr11:64151600-64155200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:64152400-64153600	Enhancers	Colon Smooth Muscle	Colon
14	chr11:64152400-64154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:64152400-64154600	Enhancers	Fetal Thymus	thymus
16	chr11:64152600-64153600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:64152600-64153600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:64152600-64153800	Enhancers	Rectal Smooth Muscle	rectum
19	chr11:64152600-64154000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:64152600-64154000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:64152600-64154600	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:64152600-64154600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:64152600-64154600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:64152800-64153600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:64152800-64153600	Enhancers	Spleen	Spleen
26	chr11:64152800-64153800	Weak transcription	Hela-S3	cervix
27	chr11:64152800-64154200	Enhancers	Primary B cells from cord blood	blood
28	chr11:64152800-64154400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:64152800-64155000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr11:64153000-64154200	Enhancers	Primary B cells from peripheral blood	blood
31	chr11:64153200-64153600	Enhancers	Brain Angular Gyrus	brain
32	chr11:64153200-64153600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:64153200-64154200	Bivalent Enhancer	K562	blood
34	chr11:64153200-64155000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:64153400-64153800	Enhancers	Adipose Nuclei	Adipose
36	chr11:64153400-64154000	Enhancers	A549	lung
37	chr11:64153400-64154600	Enhancers	NH-A	brain

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