Variant report

Variant	rs7564098
Chromosome Location	chr2:12070840-12070841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11969158..11971628-chr2:12069780..12071377,2	K562	blood:
2	chr2:12070126..12072401-chr2:12073135..12075297,3	K562	blood:
3	chr2:12070694..12072455-chr2:12080928..12083157,2	K562	blood:
4	chr2:12068113..12071037-chr2:12071445..12072975,2	K562	blood:
5	chr2:12070694..12072455-chr2:12080928..12083157,3	K562	blood:
6	chr2:12069401..12072790-chr2:12075561..12078545,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12614423	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1440040	0.87[ASN][1000 genomes]
rs55925656	0.85[ASN][1000 genomes]
rs62115003	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62115005	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62115042	0.88[EUR][1000 genomes]
rs6736037	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7590488	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7599141	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12062800-12071000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:12069000-12071800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:12069400-12071000	Enhancers	Fetal Kidney	kidney
4	chr2:12069800-12071200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:12069800-12071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:12070000-12071000	Enhancers	Fetal Lung	lung
7	chr2:12070000-12071000	Enhancers	HUVEC	blood vessel
8	chr2:12070000-12071200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:12070000-12071200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:12070000-12071200	Enhancers	Spleen	Spleen
11	chr2:12070000-12071400	Enhancers	Fetal Muscle Leg	muscle
12	chr2:12070000-12072200	Enhancers	K562	blood
13	chr2:12070200-12071000	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:12070200-12071200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:12070200-12071400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:12070400-12071200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:12070400-12071200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:12070400-12071200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:12070400-12071200	Enhancers	Dnd41	blood
20	chr2:12070400-12071200	Enhancers	GM12878-XiMat	blood
21	chr2:12070400-12071200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:12070400-12071400	Enhancers	Fetal Muscle Trunk	muscle
23	chr2:12070600-12071000	Enhancers	Lung	lung
24	chr2:12070600-12071200	Enhancers	Left Ventricle	heart
25	chr2:12070600-12071200	Enhancers	Right Atrium	heart
26	chr2:12070600-12071200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:12070600-12071400	Enhancers	Adipose Nuclei	Adipose
28	chr2:12070600-12072200	Weak transcription	Primary B cells from cord blood	blood
29	chr2:12070600-12074400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:12070800-12071000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:12070800-12071000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:12070800-12071000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr2:12070800-12071400	Enhancers	Ovary	ovary
34	chr2:12070800-12072200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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