Variant report

Variant	rs12090550
Chromosome Location	chr1:211877167-211877168
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211877072..211879946-chr1:211891385..211892885,2	K562	blood:
2	chr1:211872225..211875741-chr1:211876150..211878812,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1067244	0.83[JPT][hapmap]
rs11119790	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11119795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119801	1.00[AFR][1000 genomes]
rs11119803	1.00[AFR][1000 genomes]
rs12057678	1.00[AFR][1000 genomes]
rs12074029	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12088971	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12096414	0.98[ASN][1000 genomes]
rs17017952	1.00[ASN][1000 genomes]
rs17017957	0.99[ASN][1000 genomes]
rs2289725	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3767376	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs59220491	0.85[ASN][1000 genomes]
rs60075032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61672280	1.00[AFR][1000 genomes]
rs697003	0.83[JPT][hapmap]
rs701929	0.81[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211872200-211878800	Weak transcription	Right Atrium	heart
2	chr1:211872600-211877200	Weak transcription	Spleen	Spleen
3	chr1:211872600-211878000	Weak transcription	HMEC	breast
4	chr1:211872800-211884000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:211873000-211877600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:211875600-211878200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:211875600-211878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:211876000-211877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:211876000-211877800	Weak transcription	NHEK	skin
10	chr1:211876000-211880000	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:211876400-211877400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:211876400-211879400	Enhancers	Brain Substantia Nigra	brain
13	chr1:211876600-211877400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:211876600-211878400	Enhancers	Brain Angular Gyrus	brain
15	chr1:211876600-211879000	Weak transcription	Placenta	Placenta
16	chr1:211876800-211877200	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr1:211876800-211879400	Enhancers	Brain Anterior Caudate	brain
18	chr1:211876800-211880400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:211877000-211877600	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr1:211877000-211877800	Bivalent Enhancer	HepG2	liver
21	chr1:211877000-211878000	Enhancers	Fetal Thymus	thymus
22	chr1:211877000-211878000	Enhancers	Pancreas	Pancrea
23	chr1:211877000-211878200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:211877000-211880000	Enhancers	Fetal Muscle Leg	muscle

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