Variant report

Variant	rs41293009
Chromosome Location	chr1:84403777-84403778
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	chr1:84385110..84388032-chr1:84402549..84404103,2	K562	blood:

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

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

rs_ID	r²[population]
rs11163873	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11163880	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11163881	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11163882	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12057657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12070052	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072084	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075034	0.86[AFR][1000 genomes]
rs12080852	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12083946	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088308	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12097645	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12354247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28366451	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45551036	1.00[EUR][1000 genomes]
rs7532131	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7534340	1.00[AMR][1000 genomes]
rs7540150	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551339	1.00[EUR][1000 genomes]

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	nsv871551	chr1:84354464-84453223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84368400-84416600	Weak transcription	NHLF	lung
2	chr1:84368400-84428400	Weak transcription	Pancreas	Pancrea
3	chr1:84376800-84405000	Weak transcription	Left Ventricle	heart
4	chr1:84382600-84409800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:84383200-84408600	Weak transcription	Adipose Nuclei	Adipose
6	chr1:84384800-84406600	Weak transcription	Aorta	Aorta
7	chr1:84385200-84408600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:84387000-84408400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:84387000-84408400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:84387000-84410000	Weak transcription	Brain Germinal Matrix	brain
11	chr1:84392200-84422400	Weak transcription	Fetal Stomach	stomach
12	chr1:84392400-84420400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:84393400-84406000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:84394000-84408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:84399200-84429800	Weak transcription	HSMMtube	muscle
16	chr1:84399800-84404000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:84399800-84404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:84400200-84408400	Weak transcription	Brain Anterior Caudate	brain
19	chr1:84400600-84404200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:84401000-84405000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:84402200-84404400	Strong transcription	HSMM	muscle
22	chr1:84402800-84403800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:84402800-84404000	Weak transcription	Brain Substantia Nigra	brain
24	chr1:84402800-84406800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:84403200-84403800	Strong transcription	Fetal Brain Male	brain
26	chr1:84403600-84404200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:84403600-84404400	Enhancers	Brain Hippocampus Middle	brain
28	chr1:84403600-84405200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:84403600-84408600	Weak transcription	NHDF-Ad	bronchial
30	chr1:84403600-84426200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:84403600-84427400	Weak transcription	Fetal Brain Female	brain

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