Variant report

Variant	rs41409849
Chromosome Location	chr4:18320882-18320883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:18316789..18319711-chr4:18320059..18321878,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs57770817	1.00[AMR][1000 genomes]
rs59263365	1.00[AMR][1000 genomes]
rs60019821	1.00[AMR][1000 genomes]
rs73088680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088697	1.00[AMR][1000 genomes]
rs73092597	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094303	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094304	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094306	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094307	0.85[AFR][1000 genomes]
rs73094314	1.00[AMR][1000 genomes]
rs73094315	1.00[AMR][1000 genomes]
rs73094326	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094330	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094333	1.00[AMR][1000 genomes]
rs73094335	1.00[AMR][1000 genomes]
rs73094353	1.00[AMR][1000 genomes]
rs73094357	1.00[AMR][1000 genomes]
rs73096366	1.00[AMR][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	nsv1003931	chr4:18241575-18849898	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18320200-18321200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:18320200-18321400	Enhancers	Fetal Muscle Leg	muscle
3	chr4:18320400-18321000	Active TSS	Fetal Kidney	kidney
4	chr4:18320400-18321200	Enhancers	Placenta	Placenta
5	chr4:18320600-18321000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:18320600-18321000	Active TSS	Brain Angular Gyrus	brain
7	chr4:18320600-18321000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr4:18320600-18321000	Flanking Active TSS	Fetal Lung	lung
9	chr4:18320600-18321000	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr4:18320600-18321000	Enhancers	Pancreas	Pancrea
11	chr4:18320600-18321000	Active TSS	Placenta Amnion	Placenta Amnion
12	chr4:18320600-18321000	Active TSS	Stomach Smooth Muscle	stomach
13	chr4:18320600-18321000	Flanking Active TSS	HUVEC	blood vessel
14	chr4:18320600-18321200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:18320600-18321200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:18320600-18321200	Active TSS	Brain Hippocampus Middle	brain
17	chr4:18320600-18321200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr4:18320600-18321200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:18320600-18321200	Active TSS	Duodenum Mucosa	Duodenum
20	chr4:18320600-18321200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:18320600-18321200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr4:18320600-18321200	Enhancers	Fetal Brain Male	brain
23	chr4:18320600-18321200	Active TSS	Fetal Brain Female	brain
24	chr4:18320600-18321200	Enhancers	Right Atrium	heart
25	chr4:18320600-18321400	Flanking Active TSS	Ovary	ovary
26	chr4:18320800-18321000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:18320800-18321000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:18320800-18321000	Active TSS	Brain Germinal Matrix	brain
29	chr4:18320800-18321000	Enhancers	Esophagus	oesophagus
30	chr4:18320800-18321000	Active TSS	Fetal Intestine Small	intestine
31	chr4:18320800-18321000	Active TSS	Fetal Stomach	stomach
32	chr4:18320800-18321000	Enhancers	Gastric	stomach
33	chr4:18320800-18321000	Flanking Active TSS	Left Ventricle	heart
34	chr4:18320800-18321000	Bivalent/Poised TSS	HepG2	liver
35	chr4:18320800-18321200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
36	chr4:18320800-18321400	Enhancers	Right Ventricle	heart

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