Variant report

Variant	rs1519705
Chromosome Location	chr2:152764235-152764236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152683517..152685576-chr2:152761850..152764362,2	K562	blood:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10189865	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1022388	1.00[EUR][1000 genomes]
rs10930834	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12612539	1.00[EUR][1000 genomes]
rs12612655	1.00[EUR][1000 genomes]
rs12619249	1.00[EUR][1000 genomes]
rs12621850	1.00[EUR][1000 genomes]
rs13025115	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13030833	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1356734	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1401779	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1519706	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1519707	1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1980227	0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2176739	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460440	1.00[EUR][1000 genomes]
rs4347836	0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4549085	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4603764	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4664068	0.90[AFR][1000 genomes]
rs4664506	0.91[AMR][1000 genomes]
rs4664507	0.90[YRI][hapmap]
rs59471708	1.00[EUR][1000 genomes]
rs6433720	0.82[ASW][hapmap];0.83[AMR][1000 genomes]
rs6730990	1.00[EUR][1000 genomes]
rs7569133	1.00[EUR][1000 genomes]
rs939238	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152749400-152764400	Weak transcription	Aorta	Aorta
2	chr2:152753200-152764800	Weak transcription	Left Ventricle	heart
3	chr2:152760000-152765400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:152760600-152764600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:152760600-152764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:152761200-152765400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:152761600-152764600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:152761800-152764400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:152762800-152764600	Weak transcription	Brain Germinal Matrix	brain
10	chr2:152762800-152771000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:152763200-152764400	Weak transcription	Brain Anterior Caudate	brain
12	chr2:152763400-152764400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:152763400-152764600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:152763400-152764600	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:152763400-152764600	Weak transcription	Right Atrium	heart
16	chr2:152763400-152765200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:152763400-152765400	Enhancers	GM12878-XiMat	blood
18	chr2:152763600-152764600	Weak transcription	Fetal Heart	heart
19	chr2:152764000-152765200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr2:152764000-152765400	Enhancers	Psoas Muscle	Psoas
21	chr2:152764200-152764400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:152764200-152764400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:152764200-152765000	Enhancers	Adipose Nuclei	Adipose
24	chr2:152764200-152765200	Enhancers	HUVEC	blood vessel
25	chr2:152764200-152765400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:152764200-152765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:152764200-152765400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:152764200-152765400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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